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THE ALLELIC ARCHITECTURE OF RARE VARIATION IN AUTISM AND OTHER NEURODEVELOPMENTAL CONDITIONS. European Neuropsychopharmacology. 2024 Oct 1; 87:16-17.
Fu FJ, Satterstrom SF, McWalter MK, Brand BH, Kueffner KR, Cutler CD, Samocha SK, Robinson RE, Buxbaum BJ, Devlin DB, Roeder RK, Kruszka KP, Sanders SS, Daly DM, Talkowski TM. .
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CROSS-DISORDER RARE VARIANT ANALYSIS OF AUTISM AND ADHD. European Neuropsychopharmacology. 2024 Oct 1; 87:17.
Duan DJ, Grove GJ, Demontis DD, Satterstrom SF, Fu FJ, Carey CC, Sanders SS, Devlin DB, Roeder RK, Buxbaum BJ, Robinson RE, Talkowski TM, Neale NB, Daly DM, Børglum BA. .
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Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development. Proc Natl Acad Sci U S A. 2024 Oct; 121(40):e2402368121.
Liu Z, Ypsilanti AR, Markenscoff-Papadimitriou E, Dickel DE, Sanders SJ, Dong S, Pennacchio LA, Visel A, Rubenstein JL. PMID: 39312666; PMCID: PMC11459158.
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PubMed Mentions: Fields:
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HumansAnimalsCells
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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. Nat Commun. 2024 Sep 18; 15(1):8209.
Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin BK, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. PMID: 39294132; PMCID: PMC11411074.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review. Prenat Diagn. 2024 Oct; 44(11):1354-1366.
Herzeg A, Borges B, Diafos LN, Gupta N, MacKenzie TC, Sanders SJ. PMID: 39218781.
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Humans
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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder. HGG Adv. 2024 Oct 10; 5(4):100345.
Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. PMID: 39182167; PMCID: PMC11418108.
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Humans
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N. PMID: 38991538; PMCID: PMC11338827.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Examining Sex Differences in Autism Heritability. JAMA Psychiatry. 2024 Jul 01; 81(7):673-680.
Sandin S, Yip BHK, Yin W, Weiss LA, Dougherty JD, Fass S, Constantino JN, Hailin Z, Turner TN, Marrus N, Gutmann DH, Sanders SJ, Christoffersson B. PMID: 38630491; PMCID: PMC11024771.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes. Cell Rep. 2024 Jun 25; 43(6):114329.
Fazel Darbandi S, An JY, Lim K, Page NF, Liang L, Young DM, Ypsilanti AR, State MW, Nord AS, Sanders SJ, Rubenstein JLR. PMID: 38850535; PMCID: PMC11235582.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimals
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CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data. Brief Bioinform. 2024 May 23; 25(4).
Kim Y, Jeong M, Koh IG, Kim C, Lee H, Kim JH, Yurko R, Kim IB, Park J, Werling DM, Sanders SJ, An JY. PMID: 38966948; PMCID: PMC11224609.
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HumansCells
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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants. Am J Hum Genet. 2024 06 06; 111(6):1222-1238.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. PMID: 38781976; PMCID: PMC11179425.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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A comprehensive AI model development framework for consistent Gleason grading. Commun Med (Lond). 2024 May 09; 4(1):84.
Huo X, Ong KH, Lau KW, Gole L, Young DM, Tan CL, Zhu X, Zhang C, Zhang Y, Li L, Han H, Lu H, Zhang J, Hou J, Zhao H, Gan H, Yin L, Wang X, Chen X, Lv H, Cao H, Yu X, Shi Y, Huang Z, Marini G, Xu J, Liu B, Chen B, Wang Q, Gui K, Shi W, Sun Y, Chen W, Cao D, Sanders SJ, Lee HK, Hue SS, Yu W, Tan SY. PMID: 38724730; PMCID: PMC11082180.
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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. bioRxiv. 2024 Apr 30.
Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin B, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. PMID: 37034704; PMCID: PMC10081248.
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Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways. Biol Psychiatry Glob Open Sci. 2024 Jul; 4(4):100321.
Kissel LT, Pochareddy S, An JY, Sestan N, Sanders SJ, Wang X, Werling DM. PMID: 38957312; PMCID: PMC11217612.
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Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity. bioRxiv. 2024 Apr 23.
Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N. PMID: 38712228; PMCID: PMC11071441.
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CWAS-Plus: Estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data. medRxiv. 2024 Apr 15.
Kim Y, Jeong M, Koh IG, Kim C, Lee H, Kim JH, Yurko R, Kim IB, Park J, Werling DM, Sanders SJ, An JY. PMID: 38699372; PMCID: PMC11065022.
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. PMID: 38645094; PMCID: PMC11030480.
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PubMed Mentions:
1
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Leveraging electronic health records and knowledge networks for Alzheimer's disease prediction and sex-specific biological insights. Nat Aging. 2024 Mar; 4(3):379-395.
Tang AS, Rankin KP, Cerono G, Miramontes S, Mills H, Roger J, Zeng B, Nelson C, Soman K, Woldemariam S, Li Y, Lee A, Bove R, Glymour M, Aghaeepour N, Oskotsky TT, Miller Z, Allen IE, Sanders SJ, Baranzini S, Sirota M. PMID: 38383858; PMCID: PMC10950787.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders. Cell Stem Cell. 2024 03 07; 31(3):421-432.e8.
Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ. PMID: 38382530; PMCID: PMC10939828.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice. Mol Ther. 2024 Apr 03; 32(4):935-951.
Clarke MT, Remesal L, Lentz L, Tan DJ, Young D, Thapa S, Namuduri SR, Borges B, Kirn G, Valencia J, Lopez ME, Lui JH, Shiow LR, Dindot S, Villeda S, Sanders SJ, MacKenzie TC. PMID: 38327047; PMCID: PMC11163203.
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PubMed Mentions:
4 Fields:
Translation:
Animals
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Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites. Neuron. 2024 Apr 03; 112(7):1133-1149.e6.
Nelson AD, Catalfio AM, Gupta JP, Min L, Caballero-Florán RN, Dean KP, Elvira CC, Derderian KD, Kyoung H, Sahagun A, Sanders SJ, Bender KJ, Jenkins PM. PMID: 38290518; PMCID: PMC11097922.
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PubMed Mentions:
8 Fields:
Translation:
AnimalsCells
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The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024 Jan 05; 52(D1):D1333-D1346.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Cajbiková NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlcková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Köhler S, Haendel MA, Robinson PN. PMID: 37953324; PMCID: PMC10767975.
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29 Fields:
Translation:
Humans
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Artificial intelligence-assisted quantification and assessment of whole slide images for pediatric kidney disease diagnosis. Bioinformatics. 2024 01 02; 40(1).
Feng C, Ong K, Young DM, Chen B, Li L, Huo X, Lu H, Gu W, Liu F, Tang H, Zhao M, Yang M, Zhu K, Huang L, Wang Q, Marini GPL, Gui K, Han H, Sanders SJ, Li L, Yu W, Mao J. PMID: 38058211; PMCID: PMC10796177.
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Humans
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Predictive Modeling Leveraging Electronic Health Records Identifies Early Predictors of Alzheimer’s Disease. Alzheimer's & Dementia. 2023 Dec 25; 19(S15).
Tang TA, Rankin RK, Cerano CG, Miramontes MS, Mills MH, Oskotsky OT, Zeng ZB, Nelson NC, Soman SK, Woldemariam WS, Li LY, Lee LA, Miller MZ, Allen AI, Sanders SS, Baranzini BS, Sirota SM. .
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A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo. Commun Biol. 2023 11 13; 6(1):1151.
Lagunas T, Plassmeyer SP, Fischer AD, Friedman RZ, Rieger MA, Selmanovic D, Sarafinovska S, Sol YK, Kasper MJ, Fass SB, Aguilar Lucero AF, An JY, Sanders SJ, Cohen BA, Dougherty JD. PMID: 37953348; PMCID: PMC10641075.
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PubMed Mentions:
7 Translation:
HumansAnimalsCells
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AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms. bioRxiv. 2023 Oct 27.
Ljungdahl A, Kohani S, Page NF, Wells ES, Wigdor EM, Dong S, Sanders SJ. PMID: 37961354; PMCID: PMC10634779.
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Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior. Mol Psychiatry. 2024 01; 29(1):57-73.
Szewczyk LM, Lipiec MA, Liszewska E, Meyza K, Urban-Ciecko J, Kondrakiewicz L, Goncerzewicz A, Rafalko K, Krawczyk TG, Bogaj K, Vainchtein ID, Nakao-Inoue H, Puscian A, Knapska E, Sanders SJ, Jan Nowakowski T, Molofsky AV, Wisniewska MB. PMID: 37798419; PMCID: PMC11078762.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
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T63. CROSS-DISORDER ANALYSIS OF AUTISM AND ADHD USING RARE VARIANTS: INSIGHTS FROM DANISH IPSYCH EXOMES. European Neuropsychopharmacology. 2023 Oct 1; 75:s195-s196.
Duan DJ, Grove GJ, Demontis DD, Satterstrom SF, Fu FJ, Carey CC, Sanders SS, Devlin DB, Roeder RK, Buxbaum BJ, Robinson RE, Talkowski TM, Neale NB, Daly DM, Børglum BA. .
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CHARACTERIZING ASSOCIATIONS BETWEEN DISRUPTIVE DE NOVO RARE VARIANT BURDENS AND PHENOTYPIC COMBINATIONS IN OVER 3,000 AUTISTIC CHILDREN: TOWARDS BUILDING A PUBLIC CLINICAL GENETIC RESOURCE. European Neuropsychopharmacology. 2023 Oct 1; 75:s44.
Kuo KS, van der Merwe vC, Fu FJ, Talkowski TM, Thurm TA, Sanders SS, Bishop BS, Robinson RE. .
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Neuropsychiatric biomarker discovery: go big or go home. Trends Mol Med. 2023 Nov; 29(11):878-879.
Ljungdahl A, Sanders SJ. PMID: 37714797; PMCID: PMC10879988.
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1 Fields:
Translation:
Humans
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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease. medRxiv. 2023 Sep 12.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. PMID: 37745552; PMCID: PMC10516070.
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet. 2023 09 07; 110(9):1454-1469.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. PMID: 37595579; PMCID: PMC10502737.
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7 Fields:
Translation:
Humans
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KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties. Ann Neurol. 2023 08; 94(2):332-349.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R, KCNT2-study group, Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. PMID: 37062836.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays. Int J Mol Sci. 2023 Feb 09; 24(4).
Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A. PMID: 36834916; PMCID: PMC9959321.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review. Am J Psychiatry. 2023 01 01; 180(1):23-40.
Parellada M, Andreu-Bernabeu Á, Burdeus M, San José Cáceres A, Urbiola E, Carpenter LL, Kraguljac NV, McDonald WM, Nemeroff CB, Rodriguez CI, Widge AS, State MW, Sanders SJ. PMID: 36475375; PMCID: PMC10123775.
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PubMed Mentions:
24 Fields:
Translation:
Humans
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Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development. Cell Rep. 2022 11 01; 41(5):111585.
Cuddleston WH, Fan X, Sloofman L, Liang L, Mossotto E, Moore K, Zipkowitz S, Wang M, Zhang B, Wang J, Sestan N, Devlin B, Roeder K, Sanders SJ, Buxbaum JD, Breen MS. PMID: 36323256; PMCID: PMC9704047.
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PubMed Mentions:
12 Fields:
Translation:
HumansAnimalsCells
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Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting). J Clin Pharmacol. 2022 09; 62 Suppl 1:S36-S52.
Herzeg A, Almeida-Porada G, Charo RA, David AL, Gonzalez-Velez J, Gupta N, Lapteva L, Lianoglou B, Peranteau W, Porada C, Sanders SJ, Sparks TN, Stitelman DH, Struble E, Sumner CJ, MacKenzie TC. PMID: 36106778; PMCID: PMC9547535.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022 09; 54(9):1320-1331.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC, Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. PMID: 35982160; PMCID: PMC9653013.
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PubMed Mentions:
173 Fields:
Translation:
Humans
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The female protective effect against autism spectrum disorder. Cell Genom. 2022 Jun 08; 2(6):100134.
Wigdor EM, Weiner DJ, Grove J, Fu JM, Thompson WK, Carey CE, Baya N, van der Merwe C, Walters RK, Satterstrom FK, Palmer DS, Rosengren A, Bybjerg-Grauholm J, iPSYCH Consortium, Hougaard DM, Mortensen PB, Daly MJ, Talkowski ME, Sanders SJ, Bishop SL, Børglum AD, Robinson EB. PMID: 36778135; PMCID: PMC9903803.
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PubMed Mentions:
38 Fields:
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PubMed Mentions:
5 Fields:
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A biomedical open knowledge network harnesses the power of AI to understand deep human biology. AI Mag. 2022; 43(1):46-58.
Baranzini SE, Börner K, Morris J, Nelson CA, Soman K, Schleimer E, Keiser M, Musen M, Pearce R, Reza T, Smith B, Herr BW, Oskotsky B, Rizk-Jackson A, Rankin KP, Sanders SJ, Bove R, Rose PW, Israni S, Huang S. PMID: 36093122; PMCID: PMC9456356.
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PubMed Mentions:
4
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A Biomedical Open Knowledge Network Harnesses the Power of AI to Understand Deep Human Biology. AI Magazine. 2022 Mar 31; 43(1):46-58.
Baranzini BS, Börner BK, Morris MJ, Nelson NC, Soman SK, Schleimer SE, Keiser KM, Musen MM, Pearce PR, Reza RT, Smith SB, Herr II HB, Oskotsky OB, Rizk-Jackson RA, Rankin RK, Sanders SS, Bove BR, Rose RP, Israni IS, Huang HS. .
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Detection of subtle white matter lesions in MRI through texture feature extraction and boundary delineation using an embedded clustering strategy. Sci Rep. 2022 03 15; 12(1):4433.
Ong K, Young DM, Sulaiman S, Shamsuddin SM, Mohd Zain NR, Hashim H, Yuen K, Sanders SJ, Yu W, Hang S. PMID: 35292654; PMCID: PMC8924181.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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High-throughput characterization of the role of non-B DNA motifs on promoter function. Cell Genom. 2022 Apr 13; 2(4).
Georgakopoulos-Soares I, Victorino J, Parada GE, Agarwal V, Zhao J, Wong HY, Umar MI, Elor O, Muhwezi A, An JY, Sanders SJ, Kwok CK, Inoue F, Hemberg M, Ahituv N. PMID: 35573091; PMCID: PMC9105345.
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PubMed Mentions:
17 Fields:
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Assessing the utility of electronic measures as a proxy for cognitive ability. Autism Research. 2022 Mar 12; 15(6):988-995.
Levy LT, Britvan BB, Grosman GH, Giserman-Kiss GI, Meyering MK, Weissman WJ, Halpern HD, Zweifach ZJ, Trelles TM, Foss-Feig FJ, Kolevzon KA, Sanders SS, Robinson RE, Buxbaum BJ, Bishop BS, Siper SP. .
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Building a Precision Medicine Delivery Platform for Clinics: The University of California, San Francisco, BRIDGE Experience. J Med Internet Res. 2022 02 15; 24(2):e34560.
Bove R, Schleimer E, Sukhanov P, Gilson M, Law SM, Barnecut A, Miller BL, Hauser SL, Sanders SJ, Rankin KP. PMID: 35166689; PMCID: PMC8889486.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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THE FEMALE PROTECTIVE EFFECT AGAINST AUTISM SPECTRUM DISORDER. European Neuropsychopharmacology. 2021 Oct 1; 51:e13-e14.
Wigdor WE, Weiner WD, Grove GJ, Fu FJ, Thompson TW, Carey CC, Baya BN, van der Merwe vC, Mortensen MP, Daly DM, Talkowski TM, Sanders SS, Bishop BS, Børglum BA, Robinson RE. .
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47. GENE DISCOVERY FROM EXOME SEQUENCING IN AUTISM AND COMPARISON TO DEVELOPMENTAL DELAY AND SCHIZOPHRENIA. European Neuropsychopharmacology. 2021 Oct 1; 51:e65-e66.
Satterstrom SF, Fu FJ, Peng PM, Brand BH, Collins CR, Dong DS, Børglum BA, Robinson RE, Cutler CD, Buxbaum BJ, Daly DM, Roeder RK, Devlin DB, Sanders SS, Talkowski TM. .
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Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain. Genome Med. 2021 08 23; 13(1):135.
Liang L, Fazel Darbandi S, Pochareddy S, Gulden FO, Gilson MC, Sheppard BK, Sahagun A, An JY, Werling DM, Rubenstein JLR, Sestan N, Bender KJ, Sanders SJ. PMID: 34425903; PMCID: PMC8383430.
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PubMed Mentions:
18 Fields:
Translation:
HumansAnimalsCells
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Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries. J Child Psychol Psychiatry. 2021 11; 62(11):1297-1307.
Wickstrom J, Farmer C, Green Snyder L, Mitz AR, Sanders SJ, Bishop S, Thurm A. PMID: 34382689; PMCID: PMC9939014.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells. Cell Rep. 2021 08 03; 36(5):109483.
Spratt PWE, Alexander RPD, Ben-Shalom R, Sahagun A, Kyoung H, Keeshen CM, Sanders SJ, Bender KJ. PMID: 34348157; PMCID: PMC8719649.
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PubMed Mentions:
47 Fields:
Translation:
AnimalsCells
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Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants. Am J Surg. 2022 Jan; 223(1):182-186.
Schwab ME, Dong S, Lianoglou BR, Aguilar Lucero AF, Schwartz GB, Norton ME, MacKenzie TC, Sanders SJ. PMID: 34315577.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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View in:
PubMed Mentions:
12 Fields:
Translation:
AnimalsCells
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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. Obstetric Anesthesia Digest. 2021 May 24; 41(2):91-92.
Sparks ST, Lianoglou LB, Adami AR, Pluym PI, Holliman HK, Duffy DK, Downum DS, Patel PS, Faubel FA, Boe BN, Field FN, Murphy MA, Laurent LL, Jolley JJ, Uy UC, Slavotinek SA, Devine DP, Hodoglugil HU, Van Ziffle VJ, Sanders SS, MacKenzie MT, Norton NM. .
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Prenatal exposure to paternal smoking and likelihood for autism spectrum disorder. Autism. 2021 10; 25(7):1946-1959.
Kim B, Ha M, Kim YS, Koh YJ, Dong S, Kwon HJ, Kim YS, Lim MH, Paik KC, Yoo SJ, Kim H, Hong PS, Sanders SJ, Leventhal BL. PMID: 33878952; PMCID: PMC8419001.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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A model and test for coordinated polygenic epistasis in complex traits. Proc Natl Acad Sci U S A. 2021 04 13; 118(15).
Sheppard B, Rappoport N, Loh PR, Sanders SJ, Zaitlen N, Dahl A. PMID: 33833052; PMCID: PMC8053945.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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16p11.2. . 2021 Mar 14; 3-4.
Sanders SS. .
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Multiplex-Simplex Comparisons. . 2021 Mar 14; 3048-3048.
Sanders SS. .
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7q11.23 Duplications. . 2021 Mar 14; 10-10.
Sanders SS. .
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De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. Am J Hum Genet. 2021 04 01; 108(4):597-607.
Belyeu JR, Brand H, Wang H, Zhao X, Pedersen BS, Feusier J, Gupta M, Nicholas TJ, Brown J, Baird L, Devlin B, Sanders SJ, Jorde LB, Talkowski ME, Quinlan AR. PMID: 33675682; PMCID: PMC8059337.
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PubMed Mentions:
38 Fields:
Translation:
HumansCells
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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. Obstetrical & Gynecological Survey. 2021 Mar 1; 76(3):139-141.
Sparks ST, Lianoglou LB, Adami AR, Pluym PI, Holliman HK, Duffy DJ, Downum DS, Patel PS, Faubel FA, Boe BN, Field FN, Murphy MA, Laurent LL, Jolley JJ, Uy UC, Slavotinek SA, Devine DP, Hodoglugil HU, van Ziffle vJ, Sanders SS, MacKenzie MT, Norton NM. .
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Constructing and optimizing 3D atlases from 2D data with application to the developing mouse brain. Elife. 2021 02 11; 10.
Young DM, Fazel Darbandi S, Schwartz G, Bonzell Z, Yuruk D, Nojima M, Gole LC, Rubenstein JL, Yu W, Sanders SJ. PMID: 33570495; PMCID: PMC7994002.
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PubMed Mentions:
15 Fields:
Translation:
Animals
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Whole-Brain Image Analysis and Anatomical Atlas 3D Generation Using MagellanMapper. Curr Protoc Neurosci. 2020 12; 94(1):e104.
Young DM, Duhn C, Gilson M, Nojima M, Yuruk D, Kumar A, Yu W, Sanders SJ. PMID: 32981139; PMCID: PMC7781073.
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PubMed Mentions:
7 Fields:
Translation:
HumansAnimals
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Not All Autism Genes Are Created Equal: A Response to Myers et al. Am J Hum Genet. 2020 11 05; 107(5):1000-1003.
Buxbaum JD, Cutler DJ, Daly MJ, Devlin B, Roeder K, Sanders SJ, Autism Sequencing Consortium. PMID: 33157004; PMCID: PMC7675033.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med. 2020 10 29; 383(18):1746-1756.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME, University of California Fetal–Maternal Consortium, University of California, San Francisco Center for Maternal–Fetal Precision Medicine. PMID: 33027564; PMCID: PMC7650529.
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PubMed Mentions:
56 Fields:
Translation:
Humans
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Whole-Exome Sequencing in Fetuses with Congenital Diaphragmatic Hernias: Known and Novel Genetic Mutation. Journal of the American College of Surgeons. 2020 Oct 1; 231(4):s217.
Schwab SM, Dong DS, Sanders SS, MacKenzie MT. .
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Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers. Elife. 2020 07 01; 9.
Genç Ö, An JY, Fetter RD, Kulik Y, Zunino G, Sanders SJ, Davis GW. PMID: 32609087; PMCID: PMC7394548.
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PubMed Mentions:
11 Fields:
Translation:
HumansAnimalsCells
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A Chromatin Accessibility Atlas of the Developing Human Telencephalon. Cell. 2020 08 06; 182(3):754-769.e18.
Markenscoff-Papadimitriou E, Whalen S, Przytycki P, Thomas R, Binyameen F, Nowakowski TJ, Kriegstein AR, Sanders SJ, State MW, Pollard KS, Rubenstein JL. PMID: 32610082; PMCID: PMC7415678.
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PubMed Mentions:
45 Fields:
Translation:
HumansAnimalsCells
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Clinical impact of splicing in neurodevelopmental disorders. Genome Med. 2020 04 24; 12(1):36.
Sanders SJ, Schwartz GB, Farh KK. PMID: 32331533; PMCID: PMC7183108.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep. 2020 04 07; 31(1):107489.
Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden FO, Breen MS, Liang L, Gilson MC, Zhao X, Dong S, Klei L, Cicek AE, Buxbaum JD, Adle-Biassette H, Thomas JL, Aldinger KA, O'Day DR, Glass IA, Zaitlen NA, Talkowski ME, Roeder K, State MW, Devlin B, Sanders SJ, Sestan N. PMID: 32268104; PMCID: PMC7295160.
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PubMed Mentions:
65 Fields:
Translation:
HumansCells
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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399.
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D. PMID: 32090326.
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PubMed Mentions:
37 Fields:
Translation:
Humans
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 02 06; 180(3):568-584.e23.
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C, Autism Sequencing Consortium, iPSYCH-Broad Consortium, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. PMID: 31981491; PMCID: PMC7250485.
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PubMed Mentions:
955 Fields:
Translation:
HumansCells
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83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis. American Journal of Obstetrics and Gynecology. 2020 Jan 1; 222(1):s68-s69.
Sparks ST, Lianoglou LB, Patel PS, Adami AR, Rangwala RN, Pluym PI, Holliman HK, Downum DS, Amezcua AJ, Boe BN, Field FN, Gallagher GR, Laurent LL, MacKenzie MT, Murphy MA, Sanders SS, Slavotinek SA, Norton NM. .
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A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. PMID: 31548702; PMCID: PMC8656349.
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PubMed Mentions:
49 Fields:
Translation:
Humans
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Next-Generation Sequencing in Autism Spectrum Disorder. Cold Spring Harb Perspect Med. 2019 08 01; 9(8).
Sanders SJ. PMID: 30420340; PMCID: PMC6671934.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
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The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex. Neuron. 2019 08 21; 103(4):673-685.e5.
Spratt PWE, Ben-Shalom R, Keeshen CM, Burke KJ, Clarkson RL, Sanders SJ, Bender KJ. PMID: 31230762; PMCID: PMC7935470.
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PubMed Mentions:
94 Fields:
Translation:
AnimalsCells
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM. PMID: 30827496; PMCID: PMC6407527.
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PubMed Mentions:
23 Fields:
Translation:
HumansCells
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Predicting Splicing from Primary Sequence with Deep Learning. Cell. 2019 01 24; 176(3):535-548.e24.
Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, Chow ED, Kanterakis E, Gao H, Kia A, Batzoglou S, Sanders SJ, Farh KK. PMID: 30661751.
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PubMed Mentions:
906 Fields:
Translation:
HumansCells
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9 LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES. European Neuropsychopharmacology. 2019 Jan 1; 29:s784-s785.
Werling WD, Brand BH, An AJ, Stone SM, Glessner GJ, Zhu ZL, Collins CR, Daly DM, State SM, Quinlan QA, Marth MG, Roeder RK, Devlin DB, Sanders SS, Talkowski TM. .
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31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS. European Neuropsychopharmacology. 2019 Jan 1; 29:s1083-s1084.
Satterstrom SF, Kosmicki KJ, Wang WJ, Collins CR, de Rubeis dS, Breen BM, Gerges GS, Børglum BA, Buxbaum BJ, Cutler CD, Devlin DB, Roeder RK, Sanders SS, Talkowski TM, Daly DM. .
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Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science. 2018 12 14; 362(6420).
Li M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Lorente-Galdos B, Liu S, Giusti-Rodríguez P, Won H, de Leeuw CA, Pardiñas AF, BrainSpan Consortium, PsychENCODE Consortium, PsychENCODE Developmental Subgroup, Hu M, Jin F, Li Y, Owen MJ, O'Donovan MC, Walters JTR, Posthuma D, Reimers MA, Levitt P, Weinberger DR, Hyde TM, Kleinman JE, Geschwind DH, Hawrylycz MJ, State MW, Sanders SJ, Sullivan PF, Gerstein MB, Lein ES, Knowles JA, Sestan N. PMID: 30545854; PMCID: PMC6413317.
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PubMed Mentions:
354 Fields:
Translation:
HumansCells
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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018 12 14; 362(6420).
An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ. PMID: 30545852; PMCID: PMC6432922.
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PubMed Mentions:
148 Fields:
Translation:
HumansCells
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Automating Installation of the Integrating Biology and the Bedside (i2b2) Platform. Biomed Inform Insights. 2018; 10:1178222618777749.
Wagholikar KB, Mendis M, Dessai P, Sanz J, Law S, Gilson M, Sanders S, Vangala M, Bell DS, Murphy SN. PMID: 29887730; PMCID: PMC5989048.
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PubMed Mentions:
5
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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet. 2018 04 26; 50(5):727-736.
Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ. PMID: 29700473; PMCID: PMC5961723.
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PubMed Mentions:
140 Fields:
Translation:
Humans
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Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends Neurosci. 2018 07; 41(7):442-456.
Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ. PMID: 29691040; PMCID: PMC6015533.
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PubMed Mentions:
132 Fields:
Translation:
HumansAnimals
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 05 03; 102(5):744-759.
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. PMID: 29656859; PMCID: PMC5986661.
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PubMed Mentions:
33 Fields:
Translation:
HumansAnimalsCells
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Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2017 12; 20(12):1661-1668.
Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Whole Genome Sequencing for Psychiatric Disorders (WGSPD), Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB. PMID: 29184211; PMCID: PMC7785336.
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PubMed Mentions:
44 Fields:
Translation:
Humans
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, GEM HUGO, Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. PMID: 29100089; PMCID: PMC5673671.
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PubMed Mentions:
78 Fields:
Translation:
HumansAnimalsCells
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. PMID: 28991257; PMCID: PMC5675000.
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PubMed Mentions:
409 Fields:
Translation:
Humans
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Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection. Autism Res. 2018 01; 11(1):175-184.
Grzadzinski R, Lord C, Sanders SJ, Werling D, Bal VH. PMID: 28861935.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Appreciating the Population-wide Impact of Copy Number Variants on Cognition. Biol Psychiatry. 2017 07 15; 82(2):78-80.
An JY, Sanders SJ. PMID: 28645357.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet. 2017 Jul; 49(7):978-985.
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, iPSYCH-Broad Autism Group, Psychiatric Genomics Consortium Autism Group, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. PMID: 28504703; PMCID: PMC5552240.
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PubMed Mentions:
236 Fields:
Translation:
Humans
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De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron. 2017 May 03; 94(3):486-499.e9.
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, Tourette International Collaborative Genetics (TIC Genetics), Tourette Syndrome Association International Consortium for Genetics (TSAICG), Neale BM, Coppola G, Mathews CA, Tischfield JA, Scharf JM, State MW, Heiman GA. PMID: 28472652; PMCID: PMC5769876.
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PubMed Mentions:
93 Fields:
Translation:
Humans
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706 Wnt/ß-Catenin Pathway Contributions to Dendritic Spine and Glutamatergic Synapse Formation Responsive to Lithium-Mediated GSK3 Inhibition. Biological Psychiatry. 2017 May 1; 81(10):s286.
Stanley SR, Martin MP, Ross RA, Freitas FA, Iafrati IJ, Moyer MC, Brumback BA, Pirooznia PM, McCombie MW, Potash PJ, Zandi ZP, Purcell PS, Sanders SS, Zuo ZY, Sohal SV, Cheyette CB. .
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689.
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. PMID: 28388435; PMCID: PMC5384094.
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PubMed Mentions:
10 Fields:
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Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder. J Autism Dev Disord. 2017 Apr; 47(4):1073-1085.
Krasileva KE, Sanders SJ, Bal VH. PMID: 28132124.
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PubMed Mentions:
20 Fields:
Translation:
Humans
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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 03 06; 18(1):36.
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. PMID: 28260531; PMCID: PMC5338099.
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PubMed Mentions:
84 Fields:
Translation:
Humans
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Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder. Am J Psychiatry. 2017 06 01; 174(6):576-585.
Bishop SL, Farmer C, Bal V, Robinson EB, Willsey AJ, Werling DM, Havdahl KA, Sanders SJ, Thurm A. PMID: 28253736; PMCID: PMC5578709.
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PubMed Mentions:
47 Fields:
Translation:
Humans
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr; 49(4):504-510.
Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ. PMID: 28191890; PMCID: PMC5496244.
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PubMed Mentions:
172 Fields:
Translation:
Humans
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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. Biol Psychiatry. 2017 08 01; 82(3):224-232.
Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ. PMID: 28256214; PMCID: PMC5796785.
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PubMed Mentions:
120 Fields:
Translation:
HumansCells
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. PMID: 28132691; PMCID: PMC5294671.
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PubMed Mentions:
53 Fields:
Translation:
HumansAnimalsCells
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DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling. Mol Psychiatry. 2018 02; 23(2):467-475.
Martin PM, Stanley RE, Ross AP, Freitas AE, Moyer CE, Brumback AC, Iafrati J, Stapornwongkul KS, Dominguez S, Kivimäe S, Mulligan KA, Pirooznia M, McCombie WR, Potash JB, Zandi PP, Purcell SM, Sanders SJ, Zuo Y, Sohal VS, Cheyette BNR. PMID: 27752079; PMCID: PMC5395363.
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PubMed Mentions:
30 Fields:
Translation:
AnimalsCells
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S.33.03 Phenotype-genotype associations in the Simons Simplex Collection for autism spectrum disorder. European Neuropsychopharmacology. 2016 Oct 1; 26:s155.
Bishop BS, Farmer FC, Bal BV, Robinson RE, Sanders SS, Havdahl HA, Thurn TA. .
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Intergenerational Neuroimaging of Human Brain Circuitry. Trends Neurosci. 2016 10; 39(10):644-648.
Ho TC, Sanders SJ, Gotlib IH, Hoeft F. PMID: 27623194; PMCID: PMC5067069.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Am J Hum Genet. 2016 09 01; 99(3):540-554.
Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH. PMID: 27569545; PMCID: PMC5011063.
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PubMed Mentions:
94 Fields:
Translation:
HumansCells
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Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Transl Psychiatry. 2016 Mar 29; 6:e764.
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. PMID: 27023170; PMCID: PMC4872454.
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PubMed Mentions:
31 Fields:
Translation:
HumansCells
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Frequency and Complexity of De Novo Structural Mutation in Autism. Am J Hum Genet. 2016 Apr 07; 98(4):667-79.
Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. PMID: 27018473; PMCID: PMC4833290.
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PubMed Mentions:
54 Fields:
Translation:
HumansCells
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nat Genet. 2016 05; 48(5):552-5.
Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B, Grove J, Maller J, Samocha KE, Sanders SJ, Ripke S, Martin J, Hollegaard MV, Werge T, Hougaard DM, iPSYCH-SSI-Broad Autism Group, Neale BM, Evans DM, Skuse D, Mortensen PB, Børglum AD, Ronald A, Smith GD, Daly MJ. PMID: 26998691; PMCID: PMC4986048.
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PubMed Mentions:
185 Fields:
Translation:
Humans
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Attention Finally Being Paid to Girls at Risk of Autism. J Am Acad Child Adolesc Psychiatry. 2016 Mar; 55(3):159-60.
Bishop SL, Veenstra-VanderWeele J, Sanders SJ. PMID: 26903248.
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PubMed Mentions:
1 Fields:
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Gene coexpression modules in human cognition. Nat Neurosci. 2016 Feb; 19(2):173-5.
Werling DM, Sanders SJ. PMID: 26814582.
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PubMed Mentions: Fields:
Translation:
HumansAnimals
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Chapter 1 The Newly Emerging View of the Genome. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry. 2016 Jan 1; 3-26.
Sanders SS, Mason MC. .
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Chapter 29 Autism Spectrum Disorder Genes to Pathways to Circuits. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry. 2016 Jan 1; 443-465.
Muhle MR, Sanders SS, Reed RH, State SM. .
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. PMID: 26785492; PMCID: PMC4890146.
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PubMed Mentions:
412 Fields:
Translation:
HumansCells
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First glimpses of the neurobiology of autism spectrum disorder. Curr Opin Genet Dev. 2015 Aug; 33:80-92.
Sanders SJ. PMID: 26547130.
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PubMed Mentions:
44 Fields:
Translation:
HumansCells
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233.
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. PMID: 26402605; PMCID: PMC4624267.
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PubMed Mentions:
716 Fields:
Translation:
Humans
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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet. 2015 Jul 02; 97(1):170-6.
Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. PMID: 26094575; PMCID: PMC4571023.
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PubMed Mentions:
29 Fields:
Translation:
HumansCells
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Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority. Mol Autism. 2015; 6:36.
Halladay AK, Bishop S, Constantino JN, Daniels AM, Koenig K, Palmer K, Messinger D, Pelphrey K, Sanders SJ, Singer AT, Taylor JL, Szatmari P. PMID: 26075049; PMCID: PMC4465158.
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PubMed Mentions:
214 Fields:
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The female protective effect in autism spectrum disorder is not mediated by a single genetic locus. Mol Autism. 2015; 6:25.
Gockley J, Willsey AJ, Dong S, Dougherty JD, Constantino JN, Sanders SJ. PMID: 25973162; PMCID: PMC4429476.
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PubMed Mentions:
37 Fields:
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Loss of δ-catenin function in severe autism. Nature. 2015 Apr 02; 520(7545):51-6.
Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. PMID: 25807484; PMCID: PMC4383723.
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PubMed Mentions:
83 Fields:
Translation:
HumansAnimalsCells
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The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun. 2015 Mar 10; 6:6404.
Cotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, Liu W, Klei L, Lei J, Yin J, Reilly SK, Tebbenkamp AT, Bichsel C, Pletikos M, Sestan N, Roeder K, State MW, Devlin B, Noonan JP. PMID: 25752243; PMCID: PMC4355952.
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PubMed Mentions:
182 Fields:
Translation:
HumansAnimalsCells
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A MARKOV RANDOM FIELD-BASED APPROACH TO CHARACTERIZING HUMAN BRAIN DEVELOPMENT USING SPATIAL-TEMPORAL TRANSCRIPTOME DATA. Ann Appl Stat. 2015 Mar; 9(1):429-451.
Lin Z, Sanders SJ, Li M, Sestan N, State MW, Zhao H. PMID: 26877824; PMCID: PMC4751044.
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PubMed Mentions:
8
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No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet. 2015 Jan; 11(1):e1004852.
Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. PMID: 25621974; PMCID: PMC4306541.
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PubMed Mentions:
23 Fields:
Translation:
Humans
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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat Neurosci. 2015 Feb; 18(2):199-209.
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium. PMID: 25599223; PMCID: PMC4378867.
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PubMed Mentions:
399 Fields:
Translation:
HumansCells
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Genotype to phenotype relationships in autism spectrum disorders. Nat Neurosci. 2015 Feb; 18(2):191-8.
Chang J, Gilman SR, Chiang AH, Sanders SJ, Vitkup D. PMID: 25531569; PMCID: PMC4397214.
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PubMed Mentions:
98 Fields:
Translation:
Humans
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Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Mol Psychiatry. 2015 Nov; 20(11):1350-65.
Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. PMID: 25385366; PMCID: PMC4427554.
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PubMed Mentions:
119 Fields:
Translation:
HumansAnimalsCells
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The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13; 515(7526):216-21.
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. PMID: 25363768; PMCID: PMC4313871.
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PubMed Mentions:
1316 Fields:
Translation:
Humans
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Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. PMID: 25363760; PMCID: PMC4402723.
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PubMed Mentions:
1382 Fields:
Translation:
HumansCells
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De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep. 2014 Oct 09; 9(1):16-23.
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Hus Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. PMID: 25284784; PMCID: PMC4194132.
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PubMed Mentions:
91 Fields:
Translation:
Humans
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A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry. 2015 May 01; 77(9):775-84.
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH, Devlin B. PMID: 25534755; PMCID: PMC4379124.
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PubMed Mentions:
69 Fields:
Translation:
Humans
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Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res. 2014 Oct 24; 115(10):884-896.
Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. PMID: 25205790; PMCID: PMC4209190.
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PubMed Mentions:
139 Fields:
Translation:
HumansCTClinical Trials
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Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci. Current Genetic Medicine Reports. 2014 Sep 1; 2(3):151-161.
Moreno-De-Luca MD, Moreno-De-Luca MA, Cubells CJ, Sanders SS. .
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Publisher Site Mentions:
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A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. PMID: 25086666; PMCID: PMC4222185.
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PubMed Mentions:
537 Fields:
Translation:
Humans
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Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci. Curr Genet Med Rep. 2014; 2(3):151-161.
Moreno-De-Luca D, Moreno-De-Luca A, Cubells JF, Sanders SJ. View Publication.
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Most genetic risk for autism resides with common variation. Nat Genet. 2014 Aug; 46(8):881-5.
Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JD. PMID: 25038753; PMCID: PMC4137411.
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PubMed Mentions:
562 Fields:
Translation:
Humans
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Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 2014 Jun; 7(3):355-62.
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH, Kim SJ. PMID: 24821083; PMCID: PMC6003409.
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PubMed Mentions:
29 Fields:
Translation:
HumansCells
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Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet. 2015 Feb; 23(2):165-72.
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. PMID: 24781755; PMCID: PMC4297910.
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PubMed Mentions:
37 Fields:
Translation:
HumansAnimalsCells
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DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol Autism. 2014 Mar 06; 5(1):22.
Liu L, Lei J, Sanders SJ, Willsey AJ, Kou Y, Cicek AE, Klei L, Lu C, He X, Li M, Muhle RA, Ma'ayan A, Noonan JP, Sestan N, McFadden KA, State MW, Buxbaum JD, Devlin B, Roeder K. PMID: 24602502; PMCID: PMC4016412.
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PubMed Mentions:
70 Fields:
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Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 2013 Nov 21; 155(5):997-1007.
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. PMID: 24267886; PMCID: PMC3995413.
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PubMed Mentions:
510 Fields:
Translation:
HumansAnimalsCells
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet. 2013; 9(8):e1003671.
He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. PMID: 23966865; PMCID: PMC3744441.
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PubMed Mentions:
146 Fields:
Translation:
Humans
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94.
Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, et al. PMID: 23933821; PMCID: PMC3800159.
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PubMed Mentions:
1047 Fields:
Translation:
Humans
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Gender differences in heterosexual college students' conceptualizations and indicators of sexual consent: implications for contemporary sexual assault prevention education. J Sex Res. 2014; 51(8):904-16.
Jozkowski KN, Peterson ZD, Sanders SA, Dennis B, Reece M. PMID: 23919322.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am J Hum Genet. 2013 Jul 11; 93(1):103-9.
Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM. PMID: 23830515; PMCID: PMC3710760.
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PubMed Mentions:
40 Fields:
Translation:
HumansCells
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Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry. 2013 Oct 15; 74(8):576-84.
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH, Kim SJ. PMID: 23746936; PMCID: PMC3772969.
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PubMed Mentions:
37 Fields:
Translation:
Humans
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High rate of disease-related copy number variations in childhood onset schizophrenia. Mol Psychiatry. 2014 May; 19(5):568-72.
Ahn K, Gotay N, Andersen TM, Anvari AA, Gochman P, Lee Y, Sanders S, Guha S, Darvasi A, Glessner JT, Hakonarson H, Lencz T, State MW, Shugart YY, Rapoport JL. PMID: 23689535; PMCID: PMC5157161.
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PubMed Mentions:
66 Fields:
Translation:
Humans
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De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. PMID: 23665959; PMCID: PMC3706629.
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PubMed Mentions:
485 Fields:
Translation:
HumansCells
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. PMID: 23352160; PMCID: PMC3613849.
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PubMed Mentions:
139 Fields:
Translation:
HumansCells
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Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73.
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. PMID: 23352163; PMCID: PMC3694430.
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PubMed Mentions:
218 Fields:
Translation:
HumansAnimalsCells
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7q11.23 Duplications. . 2013 Jan 1; 8-8.
Sanders SS. .
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16p11.2. . 2013 Jan 1; 1-2.
Sanders SS. .
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Publisher Site Mentions:
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Multiplex-Simplex Comparisons. . 2013 Jan 1; 1960-1960.
Sanders SS. .
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Publisher Site Mentions:
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Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. PMID: 23159250; PMCID: PMC3516596.
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PubMed Mentions:
121 Fields:
Translation:
Humans
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Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15; 3(1):9.
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH, Roeder K, Devlin B. PMID: 23067556; PMCID: PMC3579743.
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PubMed Mentions:
215 Fields:
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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry. 2013 Oct; 18(10):1090-5.
Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH. PMID: 23044707; PMCID: PMC3720840.
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PubMed Mentions:
90 Fields:
Translation:
Humans
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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19; 338(6105):394-7.
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. PMID: 22956686; PMCID: PMC3704165.
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PubMed Mentions:
138 Fields:
Translation:
HumansAnimalsCells
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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am J Hum Genet. 2012 Jul 13; 91(1):38-55.
Luo R, Sanders SJ, Tian Y, Voineagu I, Huang N, Chu SH, Klei L, Cai C, Ou J, Lowe JK, Hurles ME, Devlin B, State MW, Geschwind DH. PMID: 22726847; PMCID: PMC3397271.
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PubMed Mentions:
88 Fields:
Translation:
HumansCells
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Cytomegalovirus reactivation following autologous peripheral blood stem cell transplantation for multiple myeloma in the era of novel chemotherapeutics and tandem transplantation. Biol Blood Marrow Transplant. 2012 Nov; 18(11):1753-8.
Kim JH, Goulston C, Sanders S, Lampas M, Zangari M, Tricot G, Hanson KE. PMID: 22728249.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2012 Jul; 159B(5):529-36.
Griesi-Oliveira K, Moreira Dde P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. PMID: 22592906.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22; 109(21):7974-81.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL. PMID: 22566635; PMCID: PMC3361440.
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PubMed Mentions:
64 Fields:
Translation:
HumansCells
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Physiological and psychological illness symptoms at high altitude and their relationship with acute mountain sickness: a prospective cohort study. J Travel Med. 2012 Jul; 19(4):210-9.
Oliver SJ, Sanders SJ, Williams CJ, Smith ZA, Lloyd-Davies E, Roberts R, Arthur C, Hardy L, Macdonald JH. PMID: 22776381.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 04; 485(7397):237-41.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. PMID: 22495306; PMCID: PMC3667984.
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PubMed Mentions:
1116 Fields:
Translation:
HumansCells
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A balanced t(10;15) translocation in a male patient with developmental language disorder. Eur J Med Genet. 2012 Feb; 55(2):128-31.
Ercan-Sencicek AG, Davis Wright NR, Sanders SJ, Oakman N, Valdes L, Bakkaloglu B, Doyle N, Yrigollen CM, Morgan TM, Grigorenko EL. PMID: 22266071; PMCID: PMC3322462.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. Brain Dev. 2012 Sep; 34(8):700-3.
Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. PMID: 22178197; PMCID: PMC3343226.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry. 2012 Mar 01; 71(5):392-402.
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. PMID: 22169095; PMCID: PMC3282144.
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PubMed Mentions:
90 Fields:
Translation:
HumansCells
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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet. 2011 Nov 15; 20(22):4360-70.
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL. PMID: 21865298; PMCID: PMC3196886.
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PubMed Mentions:
60 Fields:
Translation:
Humans
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 09; 70(5):863-85.
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. PMID: 21658581; PMCID: PMC3939065.
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PubMed Mentions:
668 Fields:
Translation:
HumansCells
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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia. The American Journal of Human Genetics. 2011 Jan 1; 88(1):121.
Moreno-De-Luca MD, Consortium CS, Mulle MJ, Consortium CS, Kaminsky KE, Sanders SS, GeneSTAR G, Myers MS, Adam AM, Pakula PA, Eisenhauer EN, Uhas UK, Weik WL, Guy GL, Care CM, Morel MC, Boni BC, Salbert SB, Chandrareddy CA, Demmer DL, Chow CE, Surti SU, Aradhya AS, Pickering PD, Golden GD, Sanger SW, Aston AE, Brothman BA, Gliem GT, Thorland TE, Ackley AT, Iyer IR, Huang HS, Barber BJ, Crolla CJ, Warren WS, Martin MC, Ledbetter LD. .
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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet. 2010 Nov 12; 87(5):618-30.
Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. PMID: 21055719; PMCID: PMC2978962.
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PubMed Mentions:
146 Fields:
Translation:
HumansCells
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Sexual behavior in the United States: results from a national probability sample of men and women ages 14-94. J Sex Med. 2010 Oct; 7 Suppl 5:255-65.
Herbenick D, Reece M, Schick V, Sanders SA, Dodge B, Fortenberry JD. PMID: 21029383.
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PubMed Mentions:
139 Fields:
Translation:
Humans
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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010 Sep 09; 467(7312):207-10.
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tüysüz B, Caglayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandas S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. PMID: 20729831; PMCID: PMC3129007.
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PubMed Mentions:
258 Fields:
Translation:
HumansAnimalsCells
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L-histidine decarboxylase and Tourette's syndrome. N Engl J Med. 2010 May 20; 362(20):1901-8.
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. PMID: 20445167; PMCID: PMC2894694.
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PubMed Mentions:
141 Fields:
Translation:
HumansCells
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Standardizing the next generation of bioinformatics software development with BioHDF (HDF5). Adv Exp Med Biol. 2010; 680:693-700.
Mason CE, Zumbo P, Sanders S, Folk M, Robinson D, Aydt R, Gollery M, Welsh M, Olson NE, Smith TM. PMID: 20865556.
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PubMed Mentions:
8 Fields:
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Body composition at high altitude: a randomized placebo-controlled trial of dietary carbohydrate supplementation. Am J Clin Nutr. 2009 Nov; 90(5):1193-202.
Macdonald JH, Oliver SJ, Hillyer K, Sanders S, Smith Z, Williams C, Yates D, Ginnever H, Scanlon E, Roberts E, Murphy D, Lawley J, Chichester E. PMID: 19793859.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Condom use as a dependent variable: a brief commentary about classification of inconsistent users. AIDS Behav. 2004 Mar; 8(1):99-103.
Crosby RA, Yarber WL, Sanders SA, Graham CA. PMID: 15146137.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis. Postgrad Med J. 2003 Oct; 79(936):600-1.
Sanders SJ, Suri M, Ross I. PMID: 14612607; PMCID: PMC1742851.
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Translation:
Humans
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Appositions between cocaine and amphetamine-related transcript- and gonadotropin releasing hormone-immunoreactive neurons in the hypothalamus of the Siberian hamster. Neurosci Lett. 2001 Nov 16; 314(3):111-4.
Leslie RA, Sanders SJ, Anderson SI, Schuhler S, Horan TL, Ebling FJ. PMID: 11704296.
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PubMed Mentions:
10 Fields:
Translation:
AnimalsCells