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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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Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility. bioRxiv. 2024 May 29.
McCluskey KE, Stovell KM, Law K, Kostyanovskaya E, Schmidt J, Exner CRT, Dea J, Brimble E, State MW, Willsey AJ, Willsey HR. PMID: 38854068; PMCID: PMC11160671.
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PubMed Mentions:
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A foundational atlas of autism protein interactions reveals molecular convergence. bioRxiv. 2024 Feb 08.
Wang B, Vartak R, Zaltsman Y, Naing ZZC, Hennick KM, Polacco BJ, Bashir A, Eckhardt M, Bouhaddou M, Xu J, Sun N, Lasser MC, Zhou Y, McKetney J, Guiley KZ, Chan U, Kaye JA, Chadha N, Cakir M, Gordon M, Khare P, Drake S, Drury V, Burke DF, Gonzalez S, Alkhairy S, Thomas R, Lam S, Morris M, Bader E, Seyler M, Baum T, Krasnoff R, Wang S, Pham P, Arbalaez J, Pratt D, Chag S, Mahmood N, Rolland T, Bourgeron T, Finkbeiner S, Swaney DL, Bandyopadhay S, Ideker T, Beltrao P, Willsey HR, Obernier K, Nowakowski TJ, Hüttenhain R, State MW, Willsey AJ, Krogan NJ. PMID: 38076945; PMCID: PMC10705567.
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Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nat Commun. 2023 Dec 06; 14(1):8077.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Tourette International Collaborative Genetics (TIC Genetics), Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. PMID: 38057346; PMCID: PMC10700338.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Pleiotropy of autism-associated chromatin regulators. Development. 2023 07 15; 150(14).
Lasser M, Sun N, Xu Y, Wang S, Drake S, Law K, Gonzalez S, Wang B, Drury V, Castillo O, Zaltsman Y, Dea J, Bader E, McCluskey KE, State MW, Willsey AJ, Willsey HR. PMID: 37366052; PMCID: PMC10399978.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
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New and emerging approaches to treat psychiatric disorders. Nat Med. 2023 02; 29(2):317-333.
Scangos KW, State MW, Miller AH, Baker JT, Williams LM. PMID: 36797480; PMCID: PMC11219030.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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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:
17 Fields:
Translation:
Humans
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Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. Nat Rev Neurosci. 2022 06; 23(6):323-341.
Willsey HR, Willsey AJ, Wang B, State MW. PMID: 35440779; PMCID: PMC10693992.
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PubMed Mentions:
52 Fields:
Translation:
HumansCells
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Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes. Cell Rep. 2021 12 07; 37(10):110089.
Markenscoff-Papadimitriou E, Binyameen F, Whalen S, Price J, Lim K, Ypsilanti AR, Catta-Preta R, Pai EL, Mu X, Xu D, Pollard KS, Nord AS, State MW, Rubenstein JL. PMID: 34879283; PMCID: PMC9512081.
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PubMed Mentions:
26 Fields:
Translation:
AnimalsCells
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Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience. Neuron. 2021 Apr 21; 109(8):1409.
Willsey HR, Exner CRT, Xu Y, Everitt A, Sun N, Wang B, Dea J, Schmunk G, Zaltsman Y, Teerikorpi N, Kim A, Anderson AS, Shin D, Seyler M, Nowakowski TJ, Harland RM, Willsey AJ, State MW. PMID: 33887193; PMCID: PMC8145999.
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PubMed Mentions:
15 Fields:
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A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders. Eur Neuropsychopharmacol. 2021 07; 48:49-88.
Díaz-Caneja CM, State MW, Hagerman RJ, Jacquemont S, Marín O, Bagni C, Umbricht D, Simonoff E, de Andrés-Trelles F, Kaale A, Pandina G, Gómez-Mancilla B, Wang PP, Cusak J, Siafis S, Leucht S, Parellada M, Loth E, Charman T, Buitelaar JK, Murphy D, Arango C. PMID: 33781629.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience. Neuron. 2021 03 03; 109(5):788-804.e8.
Willsey HR, Exner CRT, Xu Y, Everitt A, Sun N, Wang B, Dea J, Schmunk G, Zaltsman Y, Teerikorpi N, Kim A, Anderson AS, Shin D, Seyler M, Nowakowski TJ, Harland RM, Willsey AJ, State MW. PMID: 33497602; PMCID: PMC8132462.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
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Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms. Am J Psychiatry. 2021 01 01; 178(1):30-38.
Manoli DS, State MW. PMID: 33384012; PMCID: PMC8163016.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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Correction: The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos. Development. 2020 Dec 07; 147(23).
Willsey HR, Xu Y, Everitt A, Dea J, Exner CRT, Willsey AJ, State MW, Harland RM. PMID: 33288503; PMCID: PMC10846505.
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PubMed Mentions:
2 Fields:
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Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders. Neuropsychopharmacology. 2021 01; 46(1):55-69.
Searles Quick VB, Wang B, State MW. PMID: 32668441; PMCID: PMC7688655.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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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:
38 Fields:
Translation:
HumansAnimalsCells
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The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos. Development. 2020 06 22; 147(21).
Willsey HR, Xu Y, Everitt A, Dea J, Exner CRT, Willsey AJ, State MW, Harland RM. PMID: 32467234; PMCID: PMC10755402.
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PubMed Mentions:
24 Fields:
Translation:
AnimalsCells
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Enhancing WNT Signaling Restores Cortical Neuronal Spine Maturation and Synaptogenesis in Tbr1 Mutants. Cell Rep. 2020 04 14; 31(2):107495.
Fazel Darbandi S, Robinson Schwartz SE, Pai EL, Everitt A, Turner ML, Cheyette BNR, Willsey AJ, State MW, Sohal VS, Rubenstein JLR. PMID: 32294447; PMCID: PMC7473600.
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PubMed Mentions:
22 Fields:
Translation:
HumansAnimalsCells
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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:
52 Fields:
Translation:
HumansCells
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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:
867 Fields:
Translation:
HumansCells
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Autism spectrum disorder. Nat Rev Dis Primers. 2020 01 16; 6(1):5.
Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, Jones EJH, Jones RM, Pickles A, State MW, Taylor JL, Veenstra-VanderWeele J. PMID: 31949163; PMCID: PMC8900942.
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PubMed Mentions:
425 Fields:
Translation:
Humans
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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Rep. 2018 Dec 18; 25(12):3544.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. PMID: 30566877.
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PubMed Mentions:
13 Fields:
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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:
138 Fields:
Translation:
HumansCells
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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:
320 Fields:
Translation:
HumansCells
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Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. Neuron. 2018 10 24; 100(2):406-423.
Sestan N, State MW. PMID: 30359605; PMCID: PMC6989093.
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PubMed Mentions:
52 Fields:
Translation:
Humans
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Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity. Neuron. 2018 11 21; 100(4):831-845.e7.
Fazel Darbandi S, Robinson Schwartz SE, Qi Q, Catta-Preta R, Pai EL, Mandell JD, Everitt A, Rubin A, Krasnoff RA, Katzman S, Tastad D, Nord AS, Willsey AJ, Chen B, State MW, Sohal VS, Rubenstein JLR. PMID: 30318412; PMCID: PMC6250594.
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PubMed Mentions:
43 Fields:
Translation:
AnimalsCells
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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Rep. 2018 09 25; 24(13):3441-3454.e12.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. PMID: 30257206; PMCID: PMC6475626.
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PubMed Mentions:
50 Fields:
Translation:
Humans
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The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders. Cell. 2018 07 26; 174(3):505-520.
Willsey AJ, Morris MT, Wang S, Willsey HR, Sun N, Teerikorpi N, Baum TB, Cagney G, Bender KJ, Desai TA, Srivastava D, Davis GW, Doudna J, Chang E, Sohal V, Lowenstein DH, Li H, Agard D, Keiser MJ, Shoichet B, von Zastrow M, Mucke L, Finkbeiner S, Gan L, Sestan N, Ward ME, Huttenhain R, Nowakowski TJ, Bellen HJ, Frank LM, Khokha MK, Lifton RP, Kampmann M, Ideker T, State MW, Krogan NJ. PMID: 30053424; PMCID: PMC6247911.
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PubMed Mentions:
61 Fields:
Translation:
Humans
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Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2018 Jul; 21(7):1017.
Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, 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, Whole Genome Sequencing for Psychiatric Disorders (WGSPD). PMID: 29549319.
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PubMed Mentions:
2 Fields:
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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:
134 Fields:
Translation:
Humans
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Tourette disorder and other tic disorders. Handb Clin Neurol. 2018; 147:343-354.
Fernandez TV, State MW, Pittenger C. PMID: 29325623.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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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:
43 Fields:
Translation:
Humans
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Molecular and cellular reorganization of neural circuits in the human lineage. Science. 2017 11 24; 358(6366):1027-1032.
Sousa AMM, Zhu Y, Raghanti MA, Kitchen RR, Onorati M, Tebbenkamp ATN, Stutz B, Meyer KA, Li M, Kawasawa YI, Liu F, Perez RG, Mele M, Carvalho T, Skarica M, Gulden FO, Pletikos M, Shibata A, Stephenson AR, Edler MK, Ely JJ, Elsworth JD, Horvath TL, Hof PR, Hyde TM, Kleinman JE, Weinberger DR, Reimers M, Lifton RP, Mane SM, Noonan JP, State MW, Lein ES, Knowles JA, Marques-Bonet T, Sherwood CC, Gerstein MB, Sestan N. PMID: 29170230; PMCID: PMC5776074.
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PubMed Mentions:
113 Fields:
Translation:
HumansAnimalsCells
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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:
76 Fields:
Translation:
HumansAnimalsCells
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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:
90 Fields:
Translation:
Humans
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The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery. Front Neurosci. 2016; 10:351.
Georgitsi M, Willsey AJ, Mathews CA, State M, Scharf JM, Paschou P. PMID: 27536211; PMCID: PMC4971013.
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PubMed Mentions:
27
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Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder. J Psychiatr Res. 2016 11; 82:126-35.
Abdulkadir M, Tischfield JA, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, de Bruijn SF, Elzerman L, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Messchendorp MD, Mir P, Morer A, Münchau A, Murphy TL, Openneer TJ, Plessen KJ, Rath JJ, Roessner V, Fründt O, Shin EY, Sival DA, Song DH, Song J, Stolte AM, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, State MW, Heiman GA, Hoekstra PJ, Dietrich A. PMID: 27494079; PMCID: PMC5026935.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 04; 22(4):615-624.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. PMID: 27431290.
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PubMed Mentions:
105 Fields:
Translation:
Humans
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Constance E. Lieber, Theodore R. Stanley, and the Enduring Impact of Philanthropy on Psychiatry Research. Biol Psychiatry. 2016 07 15; 80(2):84-86.
Krystal JH, Abi-Dargham A, Akbarian S, Arnsten AFT, Barch DM, Bearden CE, Braff DL, Brown ES, Bullmore ET, Carlezon WA, Carter CS, Cook EH, Daskalakis ZJ, DiLeone RJ, Duman RS, Grace AA, Hariri AR, Harrison PJ, Hiroi N, Kenny PJ, Kleinman JE, Krystal AD, Lewis DA, Lipska BK, Marder SR, Mason GF, Mathalon DH, McClung CA, McDougle CJ, McIntosh AM, McMahon FJ, Mirnics K, Monteggia LM, Narendran R, Nestler EJ, Neumeister A, O'Donovan MC, Öngür D, Pariante CM, Paulus MP, Pearlson G, Phillips ML, Pine DS, Pizzagalli DA, Pletnikov MV, Ragland JD, Rapoport JL, Ressler KJ, Russo SJ, Sanacora G, Sawa A, Schatzberg AF, Shaham Y, Shamay-Tsoory SG, Sklar P, State MW, Stein MB, Strakowski SM, Taylor SF, Turecki G, Turetsky BI, Weissman MM, Zachariou V, Zarate CA, Zubieta JK. PMID: 27346079; PMCID: PMC6150945.
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PubMed Mentions:
1 Fields:
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Mental disorders of known aetiology and precision medicine in psychiatry: a promising but neglected alliance. Psychol Med. 2017 01; 47(2):193-197.
Fraguas D, Díaz-Caneja CM, State MW, O'Donovan MC, Gur RE, Arango C. PMID: 27334937; PMCID: PMC5182164.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Neuron. 2016 Feb 17; 89(4):725-33.
Hoffman EJ, Turner KJ, Fernandez JM, Cifuentes D, Ghosh M, Ijaz S, Jain RA, Kubo F, Bill BR, Baier H, Granato M, Barresi MJ, Wilson SW, Rihel J, State MW, Giraldez AJ. PMID: 26833134; PMCID: PMC4766582.
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PubMed Mentions:
101 Fields:
Translation:
HumansAnimals
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The PsychENCODE project. Nat Neurosci. 2015 Dec; 18(12):1707-12.
PsychENCODE Consortium, Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Liu S, Mangravite LM, Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shieh AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, van Bakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Wong CC, Wray GA, Wu EY, Xu X, Yao L, Senthil G, Lehner T, Sklar P, Sestan N. PMID: 26605881; PMCID: PMC4675669.
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PubMed Mentions:
218 Fields:
Translation:
HumansAnimalsCells
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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:
693 Fields:
Translation:
Humans
-
Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 2015 Nov; 14(11):1109-20.
Geschwind DH, State MW. PMID: 25891009; PMCID: PMC4694565.
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PubMed Mentions:
205 Fields:
Translation:
Humans
-
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:
80 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:
174 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.
View in:
PubMed Mentions:
23 Fields:
Translation:
Humans
-
Leveraging genetics and genomics to define the causes of mental illness. Biol Psychiatry. 2015 Jan 01; 77(1):3-5.
State MW, Geschwind DH. PMID: 25483342.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol. 2015 Feb; 30:92-9.
Willsey AJ, State MW. PMID: 25464374; PMCID: PMC4586254.
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PubMed Mentions:
68 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:
1278 Fields:
Translation:
Humans
-
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:
1346 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:
90 Fields:
Translation:
Humans
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The Inheritance of Tourette Disorder: A review. J Obsessive Compuls Relat Disord. 2014 Oct 01; 3(4):380-385.
Pauls DL, Fernandez TV, Mathews CA, State MW, Scharf JM. PMID: 25506544; PMCID: PMC4260404.
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PubMed Mentions:
30
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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
-
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:
136 Fields:
Translation:
HumansCTClinical Trials
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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:
27 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:
36 Fields:
Translation:
HumansAnimalsCells
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Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism. 2014; 5:31.
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW. PMID: 24860643; PMCID: PMC4032628.
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PubMed Mentions:
19 Fields:
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The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. Eur Child Adolesc Psychiatry. 2015 Feb; 24(2):141-51.
Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA, TIC Genetics Collaborative Group. PMID: 24771252; PMCID: PMC4209328.
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PubMed Mentions:
24 Fields:
Translation:
Humans
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The developmental transcriptome of the human brain: implications for neurodevelopmental disorders. Curr Opin Neurol. 2014 Apr; 27(2):149-56.
Tebbenkamp AT, Willsey AJ, State MW, Sestan N. PMID: 24565942; PMCID: PMC4038354.
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PubMed Mentions:
66 Fields:
Translation:
HumansCells
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Psychiatric disorders: diagnosis to therapy. Cell. 2014 Mar 27; 157(1):201-14.
Krystal JH, State MW. PMID: 24679536; PMCID: PMC4104191.
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PubMed Mentions:
63 Fields:
Translation:
HumansAnimals
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Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. Int J Epidemiol. 2014 Apr; 43(2):465-75.
Kim YS, State MW. PMID: 24618187; PMCID: PMC4047292.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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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:
68 Fields:
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Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2014 Feb; 53(2):237-57.
Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M, American Academy of Child and Adolescent Psychiatry (AACAP) Committee on Quality Issues (CQI). PMID: 24472258.
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PubMed Mentions:
174 Fields:
Translation:
Humans
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Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice. Neuron. 2014 Jan 08; 81(1):77-90.
Baldan LC, Williams KA, Gallezot JD, Pogorelov V, Rapanelli M, Crowley M, Anderson GM, Loring E, Gorczyca R, Billingslea E, Wasylink S, Panza KE, Ercan-Sencicek AG, Krusong K, Leventhal BL, Ohtsu H, Bloch MH, Hughes ZA, Krystal JH, Mayes L, de Araujo I, Ding YS, State MW, Pittenger C. PMID: 24411733; PMCID: PMC3894588.
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PubMed Mentions:
114 Fields:
Translation:
HumansAnimals
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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:
500 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:
137 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, Santangelo SL, et al. PMID: 23933821; PMCID: PMC3800159.
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PubMed Mentions:
1036 Fields:
Translation:
Humans
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Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med. 2013 Aug 15; 369(7):621-9.
Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG. PMID: 23862974; PMCID: PMC3846391.
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PubMed Mentions:
67 Fields:
Translation:
HumansAnimalsCells
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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:
38 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:
36 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:
65 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:
468 Fields:
Translation:
HumansCells
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Recent developments in the genetics of autism spectrum disorders. Curr Opin Genet Dev. 2013 Jun; 23(3):310-5.
Murdoch JD, State MW. PMID: 23537858.
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PubMed Mentions:
62 Fields:
Translation:
Humans
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Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science. 2013 Mar 01; 339(6123):1077-80.
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avsar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioglu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kiliç T, Lifton RP, Noonan JP, Yasuno K, Günel M. PMID: 23348505; PMCID: PMC4808587.
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PubMed Mentions:
393 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:
214 Fields:
Translation:
HumansAnimalsCells
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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:
138 Fields:
Translation:
HumansCells
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The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron. 2012 Dec 20; 76(6):1052-6.
Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, Autism Sequencing Consortium. PMID: 23259942; PMCID: PMC3863639.
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PubMed Mentions:
101 Fields:
Translation:
HumansCells
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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.
View in:
PubMed Mentions:
214 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:
89 Fields:
Translation:
Humans
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Neuroscience. The emerging biology of autism spectrum disorders. Science. 2012 Sep 14; 337(6100):1301-3.
State MW, Šestan N. PMID: 22984058; PMCID: PMC3657753.
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PubMed Mentions:
74 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:
133 Fields:
Translation:
HumansAnimalsCells
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Genome-wide association study of Tourette's syndrome. Mol Psychiatry. 2013 Jun; 18(6):721-8.
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, North American Brain Expression Consortium, Hardy J, UK Human Brain Expression Database, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL. PMID: 22889924; PMCID: PMC3605224.
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PubMed Mentions:
93 Fields:
Translation:
HumansCells
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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:
87 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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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:
1095 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:
89 Fields:
Translation:
HumansCells
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The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci. 2011 Oct 30; 14(12):1499-506.
State MW, Levitt P. PMID: 22037497; PMCID: PMC3940335.
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PubMed Mentions:
146 Fields:
Translation:
Humans
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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:
660 Fields:
Translation:
HumansCells
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The erosion of phenotypic specificity in psychiatric genetics: emerging lessons from CNTNAP2. Biol Psychiatry. 2011 May 01; 69(9):816-7.
State MW. PMID: 21497679.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Recent advances in Tourette syndrome. Curr Opin Neurol. 2011 Apr; 24(2):119-25.
Bloch M, State M, Pittenger C. PMID: 21386676; PMCID: PMC4065550.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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High levels of histidine decarboxylase in the striatum of mice and rats. Neurosci Lett. 2011 May 16; 495(2):110-4.
Krusong K, Ercan-Sencicek AG, Xu M, Ohtsu H, Anderson GM, State MW, Pittenger C. PMID: 21440039; PMCID: PMC3081964.
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PubMed Mentions:
11 Fields:
Translation:
Animals
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The genetics of Tourette disorder. Curr Opin Genet Dev. 2011 Jun; 21(3):302-9.
State MW. PMID: 21277193; PMCID: PMC3102152.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron. 2010 Oct 21; 68(2):254-69.
State MW. PMID: 20955933; PMCID: PMC3292208.
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PubMed Mentions:
71 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:
257 Fields:
Translation:
HumansAnimalsCells
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Another piece of the autism puzzle. Nat Genet. 2010 Jun; 42(6):478-9.
State MW. PMID: 20502490.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Progress in cytogenetics: implications for child psychopathology. J Am Acad Child Adolesc Psychiatry. 2010 Aug; 49(8):736-51; quiz 856-7.
Hoffman EJ, State MW. PMID: 20643309.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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:
138 Fields:
Translation:
HumansCells
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Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clin Genet. 2010 May; 77(5):499-502.
Bayrakli F, Bilguvar K, Ceyhan D, Ercan-Sencicek AG, Cankaya T, Bayrakli S, Guney I, Mane SM, State MW, Gunel M. PMID: 20447154.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet. 2010 May; 42(5):420-5.
Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. PMID: 20364137; PMCID: PMC2861730.
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PubMed Mentions:
118 Fields:
Translation:
Humans
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A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. Am J Med Genet A. 2010 Apr; 152A(4):1039-42.
Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. PMID: 20358624.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Additional support for the association of SLITRK1 var321 and Tourette syndrome. Mol Psychiatry. 2010 May; 15(5):447-50.
O'Roak BJ, Morgan TM, Fishman DO, Saus E, Alonso P, Gratacòs M, Estivill X, Teltsh O, Kohn Y, Kidd KK, Cho J, Lifton RP, State MW. PMID: 20351724; PMCID: PMC3292207.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am. 2010 Mar; 33(1):83-105.
El-Fishawy P, State MW. PMID: 20159341; PMCID: PMC2841771.
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PubMed Mentions:
50 Fields:
Translation:
Humans
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Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics. 2010 Jul; 11(3):319-25.
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. PMID: 20082205.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. Am J Med Genet A. 2009 Nov; 149A(11):2569-72.
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. PMID: 19876906.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. J Clin Neurosci. 2009 Dec; 16(12):1610-4.
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. PMID: 19793656.
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PubMed Mentions:
14 Fields:
Translation:
HumansCells
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Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron. 2009 May 28; 62(4):494-509.
Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovic D, Geschwind DH, Mane SM, State MW, Sestan N. PMID: 19477152; PMCID: PMC2739738.
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PubMed Mentions:
305 Fields:
Translation:
HumansCells
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Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009 May 28; 459(7246):528-33.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. PMID: 19404256; PMCID: PMC2943511.
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PubMed Mentions:
477 Fields:
Translation:
HumansCells
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Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome. J Comp Neurol. 2009 Mar 01; 513(1):21-37.
Stillman AA, Krsnik Z, Sun J, Rasin MR, State MW, Sestan N, Louvi A. PMID: 19105198; PMCID: PMC3292218.
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PubMed Mentions:
37 Fields:
Translation:
HumansAnimalsCells
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Autism and autism spectrum disorders: diagnostic issues for the coming decade. J Child Psychol Psychiatry. 2009 Jan; 50(1-2):108-15.
Volkmar FR, State M, Klin A. PMID: 19220594.
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PubMed Mentions:
66 Fields:
Translation:
Humans
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Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 2008 Dec; 40(12):1472-7.
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Ohman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. PMID: 18997786; PMCID: PMC2682433.
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PubMed Mentions:
101 Fields:
Translation:
HumansCells
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Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. Am J Med Genet A. 2008 Nov 01; 146A(21):2746-52.
Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO. PMID: 18837054.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 05; 147B(4):463-6.
Speed WC, O'Roak BJ, Tárnok Z, Barta C, Pakstis AJ, State MW, Kidd KK. PMID: 18004766.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2008 Jun; 82(6):1385.
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. PMID: 18551756; PMCID: PMC2661627.
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PubMed Mentions:
21 Fields:
Translation:
HumansCells
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Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008 May; 40(5):592-599.
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. PMID: 18391953; PMCID: PMC3766631.
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PubMed Mentions:
374 Fields:
Translation:
HumansCells
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Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 2008 May; 9(2):119-25.
Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. PMID: 18322713.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Autism genetics: strategies, challenges, and opportunities. Autism Res. 2008 Feb; 1(1):4-17.
O'Roak BJ, State MW. PMID: 19360646.
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PubMed Mentions:
46 Fields:
Translation:
HumansCells
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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet. 2008 Jan; 82(1):165-73.
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. PMID: 18179895; PMCID: PMC2253974.
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PubMed Mentions:
252 Fields:
Translation:
HumansAnimals
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A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. J Neurosurg. 2007 Dec; 107(6 Suppl):495-9.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. PMID: 18154020.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum Mutat. 2007 Dec; 28(12):1236-40.
Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. PMID: 17676595.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28.
Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Koop F, Langemeijer M, Langemeijer M, Hijmans C, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. PMID: 17322880; PMCID: PMC4867008.
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621 Fields:
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A surprising METamorphosis: autism genetics finds a common functional variant. Proc Natl Acad Sci U S A. 2006 Nov 07; 103(45):16621-2.
State MW. PMID: 17075042; PMCID: PMC1636504.
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1 Fields:
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Recent advances in the genetics of autism. Biol Psychiatry. 2007 Feb 15; 61(4):429-37.
Gupta AR, State MW. PMID: 16996486.
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66 Fields:
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[Autism: genetics]. Braz J Psychiatry. 2006 May; 28 Suppl 1:S29-38.
Gupta AR, State MW. PMID: 16791389.
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3 Fields:
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A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 Feb; 116(2):430-5.
Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA. PMID: 16453024; PMCID: PMC1359045.
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72 Fields:
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Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science. 2005 Oct 14; 310(5746):317-20.
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. PMID: 16224024.
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353 Fields:
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HumansAnimalsCells
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Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23). Am J Med Genet A. 2005 Apr 30; 134(3):282-9.
Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. PMID: 15754353.
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2 Fields:
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HumansCells
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Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005 Feb 22; 102(8):2975-9.
Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. PMID: 15684060; PMCID: PMC549488.
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37 Fields:
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Electrocardiographic changes in children and adolescents treated with ziprasidone: a prospective study. J Am Acad Child Adolesc Psychiatry. 2005 Jan; 44(1):73-9.
Blair J, Scahill L, State M, Martin A. PMID: 15608546.
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24 Fields:
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HumansCTClinical Trials
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Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. Am J Hum Genet. 2005 Jan; 76(1):172-9.
Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. PMID: 15540160; PMCID: PMC1196421.
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24 Fields:
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Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22. Am J Med Genet A. 2004 Sep 15; 130A(1):37-9.
Cuker A, State MW, King RA, Davis N, Ward DC. PMID: 15368493.
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12 Fields:
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HumansCells
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Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2004 Jun; 74(6):1286-93.
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. PMID: 15106122; PMCID: PMC1182094.
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65 Fields:
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Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4684-9.
State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. PMID: 12682296; PMCID: PMC153616.
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22 Fields:
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Sinus node dysfunction associated with lithium therapy in a child. Tex Heart Inst J. 2002; 29(3):200-2.
Moltedo JM, Porter GA, State MW, Snyder CS. PMID: 12224723; PMCID: PMC124759.
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4 Fields:
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Humans
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Rapid DNA fiber technique for size measurements of linear and circular DNA probes. Biotechniques. 2001 Aug; 31(2):246-50.
Henegariu O, Grober L, Haskins W, Bowers PN, State MW, Ohmido N, Bray-Ward P, Ward DC. PMID: 11515354.
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7 Fields:
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Cells
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Tourette's syndrome and related disorders. Child Adolesc Psychiatr Clin N Am. 2001 Apr; 10(2):317-31, ix.
State MW, Pauls DL, Leckman JF. PMID: 11351801.
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3 Fields:
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The genetics of childhood psychiatric disorders: a decade of progress. J Am Acad Child Adolesc Psychiatry. 2000 Aug; 39(8):946-62.
State MW, Lombroso PJ, Pauls DL, Leckman JF. PMID: 10939224.
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4 Fields:
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Humans
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Genetics of childhood disorders: XV. Prader-Willi syndrome: genes, brain, and behavior. J Am Acad Child Adolesc Psychiatry. 2000 Jun; 39(6):797-800.
State MW, Dykens EM. PMID: 10846317.
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7 Fields:
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Genetics of childhood disorders: XIII. Genomic imprinting: the indelible mark of the gamete. J Am Acad Child Adolesc Psychiatry. 2000 Apr; 39(4):532-5.
Greally JM, State MW. PMID: 10761358.
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Pharmacologic management of psychiatric and behavioral symptoms in mental retardation. Child Adolesc Psychiatr Clin N Am. 2000 Jan; 9(1):225-43, x-xi.
Madrid AL, State MW, King BH. PMID: 10674198.
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2 Fields:
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Humans
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Identification, chromosomal assignment, and expression analysis of the human homeodomain-containing gene Orthopedia (OTP). Genomics. 1999 Aug 15; 60(1):96-104.
Lin X, State MW, Vaccarino FM, Greally J, Hass M, Leckman JF. PMID: 10458915.
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11 Fields:
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HumansAnimalsCells
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Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patients. J Am Acad Child Adolesc Psychiatry. 1999 Mar; 38(3):329-34.
State MW, Dykens EM, Rosner B, Martin A, King BH. PMID: 10087695.
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13 Fields:
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Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report. Biol Psychiatry. 1998 Dec 15; 44(12):1349-52.
Martin A, State M, Anderson GM, Kaye WM, Hanchett JM, McConaha CW, North WG, Leckman JF. PMID: 9861478.
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25 Fields:
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Prader-Willi syndrome. Am J Psychiatry. 1998 Sep; 155(9):1265-73.
Martin A, State M, Koenig K, Schultz R, Dykens EM, Cassidy SB, Leckman JF. PMID: 9734553.
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7 Fields:
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Effects of electroconvulsive therapy in adolescents with severe endogenous depression resistant to pharmacotherapy. Biol Psychiatry. 1998 Mar 01; 43(5):335-8.
Strober M, Rao U, DeAntonio M, Liston E, State M, Amaya-Jackson L, Latz S. PMID: 9513748.
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PubMed Mentions:
7 Fields:
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HumansCTClinical Trials
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Mental retardation: a review of the past 10 years. Part I. J Am Acad Child Adolesc Psychiatry. 1997 Dec; 36(12):1656-63.
King BH, State MW, Shah B, Davanzo P, Dykens E. PMID: 9401326.
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PubMed Mentions:
2 Fields:
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HumansAnimals
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Mental retardation: a review of the past 10 years. Part II. J Am Acad Child Adolesc Psychiatry. 1997 Dec; 36(12):1664-71.
State MW, King BH, Dykens E. PMID: 9401327.
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2 Fields:
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Humans
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Eating themselves to death: have "personal rights" gone too far in treating people with Prader-Willi syndrome? Ment Retard. 1997 Aug; 35(4):312-4.
Dykens EM, Goff BJ, Hodapp RM, Davis L, Devanzo P, Moss F, Halliday J, Shah B, State M, King B. PMID: 9270240.
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2 Fields:
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Humans