Stephan Sanders, PhD

Title(s)Associate Professor, Psychiatry
SchoolSchool of Medicine
Address1550 Fourth St, #445
San Francisco CA 94158
ORCID ORCID Icon0000-0001-9112-5148 Additional info
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    Other Positions
    Title(s)UCSF Weill Institute for Neurosciences

    Collapse Biography 
    Collapse Education and Training
    YalePhD - supervisor: Matt State2014Genetics
    YalePostdoc - supervisor: Matt State2011Child Study Center
    Royal College of Paediatrics and Child Health (UK)MRCPCH (Board equivalent)2007Paediatrics
    Nottingham Medical School (UK)BMBS (MD equivalent)2003Medicine
    Collapse Awards and Honors
    International Society of Psychiatric Genetics2019Theodore Reich Young Investigator Award
    UCSF Weill Institute for Neurosciences2016UCSF Weill Neurosciences Innovation Award
    Brain & Behavior Research Foundation2015NARSAD Young Investigator Grant
    Autism Speaks2015Annual Top 10 Autism Research Papers
    Howard Hughes Medical Institute (HHMI) 2013International Student Research Fellowship
    Gruber Foundation2012Gruber Science Fellowship

    Collapse Overview 
    Collapse Overview
    Dr. Sanders trained as a pediatric physician in the UK before undertaking a PhD and postdoctoral research position at Yale. He is now an Associate Professor at UCSF in the Department of Psychiatry. His research focuses on using genomics and bioinformatics to understand the etiology of developmental disorders, such as Autism Spectrum Disorder (ASD).

    As a member of Dr. Matthew State's lab, he worked with the Simons Simplex Collection Genomic Consortium (SSCGC) to quantify the role of de novo copy number variants (CNVs) in ASD, including discovering that de novo duplications at 7q11.23 are an ASD risk factor (Sanders et al. Neuron 2011). He also used exome sequencing to show that de novo protein-truncating variants PTVs (also called loss-of-function (LoF) mutations) are associated with ASD. This analysis established a statistical framework for identifying the specific genes involved in ASD pathology, based on these de novo events, discovering that the voltage-gated sodium channel SCN2A is an ASD risk gene (Sanders et al. Nature 2012).

    Combining data from the Simons Simplex Collection (SSC), Autism Sequencing Consortium (ASC), and the Autism Genome Project (AGP), Dr. Sanders’ work identified 65 ASD-associated genes and 6 ASD-associated CNV loci (Sanders et al. Neuron 2015). In addition, by comparing the CNV and exome data, this analysis showed that a single critical gene is often present in small de novo deletions (e.g. <7 genes), whereas large de novo CNVs tend to contain multiple risk genes of lower effect.

    As a PI, Dr. Sanders co-leads the whole-genome sequencing (WGS) working group of the ASC with Michael Talkowski). This group developed the Category-Wide Association Study (CWAS) approach to WGS analysis, which provides a framework to define and account for the multiple comparisons inherent to these analyses (Werling et al. Nature Genetics 2018). He is also a member of the Whole-Genome Sequencing in Psychiatric Disorders (WGSPD) steering group, which seeks to integrate WGS data across multiple disorders to maximize power (Sanders et al. Nature Neuroscience 2018).

    His lab has helped understand the role of SCN2A mutations in human disorders. In collaboration with Dr. Kevin Bender, he showed that loss-of-function variants that reduce neuronal excitability lead to ASD and developmental delay, while gain-of-function variants that increase neuronal excitability lead to infantile seizures (Ben-Shalom et al. Biological Psychiatry 2017). The loss-of-function mutations also impact back-propagation of the action potential and synaptic plasticity (Spratt et al. BioRxiv 2018), potentially opening an avenue to future therapeutics, as discussed in the review written in collaboration with the SCN2A family group and numerous researchers (Sanders et al. Trends in Neuroscience 2018).

    Dr. Sanders is the Director of the Psychiatry Department Bioinformatics Core (PsychCore) at UCSF, a member of the SPARK medical genetics committee, the Autism Science Foundation Scientific Advisory Board, and a Section Editor for the Journal of Neurodevelopmental Disorders.

    Collapse Research 
    Collapse Research Activities and Funding
    Assessing Genomic, Regulatory and Transcriptional Variation at Single Nuclei Resolution in the Brains of Individuals with Autism Spectrum Disorder
    NIH R01MH125516Jul 27, 2021 - May 31, 2026
    Role: Principal Investigator
    2/2 - Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain development
    NIH U01MH122681Feb 10, 2021 - Nov 30, 2025
    Role: Principal Investigator
    4/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 Exomes
    NIH U01MH111662Apr 5, 2017 - Jan 31, 2022
    Role: Co-Investigator
    1/3 Multidimensional investigation of the etiology of autism spectrum disorder
    NIH R01MH109901Aug 1, 2016 - Jun 30, 2019
    Role: Co-Investigator
    3/3 Integrative Genomic Analysis of Human Brain Development and Autism
    NIH R01MH110928Jul 21, 2016 - Apr 30, 2020
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Featured Publications

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Leveraging electronic health records and knowledge networks for Alzheimer's disease prediction and sex-specific biological insights. Nat Aging. 2024 Feb 21. 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.
      View in: PubMed   Mentions: Translation:Humans
    2. Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders. Cell Stem Cell. 2024 Feb 13. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    3. 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.
      View in: PubMed   Mentions:    Fields:    
    4. 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.
      View in: PubMed   Mentions:    Fields:    
    5. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    7. 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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    8. 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.
      View in: PubMed   Mentions: 1  Translation:HumansAnimalsCells
    9. 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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    10. Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior. Mol Psychiatry. 2023 Oct 05. 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.
      View in: PubMed   Mentions: 1     Fields:    
    11. 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. .
      View in: Publisher Site   Mentions:
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    13. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    14. 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.
      View in: PubMed   Mentions:
    15. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    16. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    17. Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. bioRxiv. 2023 Mar 28. Chardon FM, McDiarmid TA, Page NF, Martin B, Domcke S, Regalado SG, Lalanne JÆ, Calderon D, Starita LM, Sanders SJ, Ahituv N, Shendure J. PMID: 37034704; PMCID: PMC10081248.
      View in: PubMed   Mentions:
    18. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    19. 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.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    20. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    21. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    22. 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.
      View in: PubMed   Mentions: 85     Fields:    Translation:Humans
    23. 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.
      View in: PubMed   Mentions: 21  
    24. Enhancing Clinical Information Display to Improve Patient Encounters: Human-Centered Design and Evaluation of the Parkinson Disease-BRIDGE Platform. JMIR Hum Factors. 2022 May 06; 9(2):e33967. Brown EG, Schleimer E, Bledsoe IO, Rowles W, Miller NA, Sanders SJ, Rankin KP, Ostrem JL, Tanner CM, Bove R. PMID: 35522472; PMCID: PMC9123539.
      View in: PubMed   Mentions: 1  
    25. 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.
      View in: PubMed   Mentions: 2  
    26. 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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    27. 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.
      View in: PubMed   Mentions: 10  
    28. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    29. 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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    30. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    31. 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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    32. 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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    33. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    34. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    35. 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.
      View in: PubMed   Mentions: 40     Fields:    Translation:AnimalsCells
    36. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    37. Extrathymic Aire-expressing cells support maternal-fetal tolerance. Sci Immunol. 2021 07 16; 6(61). Gillis-Buck E, Miller H, Sirota M, Sanders SJ, Ntranos V, Anderson MS, Gardner JM, MacKenzie TC. PMID: 34272228; PMCID: PMC9363019.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells
    38. 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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    39. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    40. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    41. 16p11.2. . 2021 Mar 14; 3-4. Sanders SS. .
      View in: Publisher Site   Mentions:
    42. 7q11.23 Duplications. . 2021 Mar 14; 10-10. Sanders SS. .
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    43. Multiplex-Simplex Comparisons. . 2021 Mar 14; 3048-3048. Sanders SS. .
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    44. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    45. 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. .
      View in: Publisher Site   Mentions:
    46. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:Animals
    47. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    48. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    49. 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.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    50. 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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    51. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    52. 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.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    53. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    54. 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.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCells
    55. 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.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    56. 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.
      View in: PubMed   Mentions: 816     Fields:    Translation:HumansCells
    57. 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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    58. 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.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    59. Next-Generation Sequencing in Autism Spectrum Disorder. Cold Spring Harb Perspect Med. 2019 08 01; 9(8). Sanders SJ. PMID: 30420340; PMCID: PMC6671934.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimals
    60. 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.
      View in: PubMed   Mentions: 77     Fields:    Translation:AnimalsCells
    61. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    62. 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.
      View in: PubMed   Mentions: 716     Fields:    Translation:HumansCells
    63. 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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    64. 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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    65. 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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    66. 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.
      View in: PubMed   Mentions: 121     Fields:    Translation:HumansCells
    67. 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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    68. 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.
      View in: PubMed   Mentions: 133     Fields:    Translation:Humans
    69. 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.
      View in: PubMed   Mentions: 109     Fields:    Translation:HumansAnimals
    70. 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.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    71. 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.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    72. 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.
      View in: PubMed   Mentions: 70     Fields:    Translation:HumansAnimalsCells
    73. 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.
      View in: PubMed   Mentions: 365     Fields:    Translation:Humans
    74. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    75. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    76. 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.
      View in: PubMed   Mentions: 220     Fields:    Translation:Humans
    77. 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.
      View in: PubMed   Mentions: 88     Fields:    Translation:Humans
    78. 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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    79. 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.
      View in: PubMed   Mentions: 8     Fields:    
    80. 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.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    81. 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.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    82. 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.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    83. 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.
      View in: PubMed   Mentions: 161     Fields:    Translation:Humans
    84. 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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    85. 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.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansAnimalsCells
    86. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:AnimalsCells
    87. 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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    88. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    89. 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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    90. 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.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    91. 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.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCells
    92. 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.
      View in: PubMed   Mentions: 175     Fields:    Translation:Humans
    93. 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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    94. Gene coexpression modules in human cognition. Nat Neurosci. 2016 Feb; 19(2):173-5. Werling DM, Sanders SJ. PMID: 26814582.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    95. 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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    96. 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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    97. 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.
      View in: PubMed   Mentions: 373     Fields:    Translation:HumansCells
    98. First glimpses of the neurobiology of autism spectrum disorder. Curr Opin Genet Dev. 2015 Aug; 33:80-92. Sanders SJ. PMID: 26547130.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    99. 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.
      View in: PubMed   Mentions: 679     Fields:    Translation:Humans
    100. 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.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    101. 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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    102. 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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    103. 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.
      View in: PubMed   Mentions: 83     Fields:    Translation:HumansAnimalsCells
    104. 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.
      View in: PubMed   Mentions: 169     Fields:    Translation:HumansAnimalsCells
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    106. 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.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    107. 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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    108. 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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    109. 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.
      View in: PubMed   Mentions: 120     Fields:    Translation:HumansAnimalsCells
    110. 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.
      View in: PubMed   Mentions: 1330     Fields:    Translation:HumansCells
    111. 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.
      View in: PubMed   Mentions: 1261     Fields:    Translation:Humans
    112. 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.
      View in: PubMed   Mentions: 86     Fields:    Translation:Humans
    113. 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.
      View in: PubMed   Mentions: 70     Fields:    Translation:Humans
    114. 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.
      View in: PubMed   Mentions: 132     Fields:    Translation:HumansCTClinical Trials
    115. 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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    116. 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.
      View in: PubMed   Mentions: 516     Fields:    Translation:Humans
    117. 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.
    118. 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.
      View in: PubMed   Mentions: 533     Fields:    Translation:Humans
    119. 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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    120. 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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    121. 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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    122. 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.
      View in: PubMed   Mentions: 482     Fields:    Translation:HumansAnimalsCells
    123. 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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    124. 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.
      View in: PubMed   Mentions: 1013     Fields:    Translation:Humans
    125. 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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    126. 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.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    127. 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.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    128. 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.
      View in: PubMed   Mentions: 65     Fields:    Translation:Humans
    129. 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.
      View in: PubMed   Mentions: 449     Fields:    Translation:HumansCells
    130. 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.
      View in: PubMed   Mentions: 139     Fields:    Translation:HumansCells
    131. 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.
      View in: PubMed   Mentions: 212     Fields:    Translation:HumansAnimalsCells
    132. 7q11.23 Duplications. . 2013 Jan 1; 8-8. Sanders SS. .
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    133. 16p11.2. . 2013 Jan 1; 1-2. Sanders SS. .
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    134. Multiplex-Simplex Comparisons. . 2013 Jan 1; 1960-1960. Sanders SS. .
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    135. 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.
      View in: PubMed   Mentions: 117     Fields:    Translation:Humans
    136. 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.
      View in: PubMed   Mentions: 212     Fields:    
    137. 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.
      View in: PubMed   Mentions: 90     Fields:    Translation:Humans
    138. 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.
      View in: PubMed   Mentions: 129     Fields:    Translation:HumansAnimalsCells
    139. 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.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansCells
    140. 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    141. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    142. 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.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansCells
    143. 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.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    144. 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.
      View in: PubMed   Mentions: 1084     Fields:    Translation:HumansCells
    145. 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.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    146. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    147. 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.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansCells
    148. 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.
      View in: PubMed   Mentions: 58     Fields:    Translation:Humans
    149. 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.
      View in: PubMed   Mentions: 658     Fields:    Translation:HumansCells
    150. 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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    151. 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.
      View in: PubMed   Mentions: 142     Fields:    Translation:HumansCells
    152. 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.
      View in: PubMed   Mentions: 132     Fields:    Translation:Humans
    153. 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.
      View in: PubMed   Mentions: 259     Fields:    Translation:HumansAnimalsCells
    154. 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.
      View in: PubMed   Mentions: 134     Fields:    Translation:HumansCells
    155. 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.
      View in: PubMed   Mentions: 8     Fields:    
    156. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    157. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    158. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    159. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells