| Year |
Citation |
Score |
| 2024 |
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, ... ... Sanders SJ, et al. Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders. Cell Stem Cell. PMID 38382530 DOI: 10.1016/j.stem.2024.01.010 |
0.31 |
|
| 2024 |
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. Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites. Neuron. PMID 38290518 DOI: 10.1016/j.neuron.2024.01.003 |
0.329 |
|
| 2023 |
Ljungdahl A, Kohani S, Page NF, Wells ES, Wigdor EM, Dong S, Sanders SJ. AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms. Biorxiv : the Preprint Server For Biology. PMID 37961354 DOI: 10.1101/2023.10.24.562294 |
0.612 |
|
| 2023 |
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. A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo. Communications Biology. 6: 1151. PMID 37953348 DOI: 10.1038/s42003-023-05483-w |
0.576 |
|
| 2023 |
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, ... ... Sanders SJ, et al. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. American Journal of Human Genetics. PMID 37595579 DOI: 10.1016/j.ajhg.2023.07.010 |
0.751 |
|
| 2023 |
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, et al. KCNT2-related disorders: phenotypes, functional and pharmacological properties. Annals of Neurology. PMID 37062836 DOI: 10.1002/ana.26662 |
0.303 |
|
| 2023 |
Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A. Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays. International Journal of Molecular Sciences. 24. PMID 36834916 DOI: 10.3390/ijms24043509 |
0.687 |
|
| 2022 |
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, Hougaard DM, Mortensen PB, ... ... Sanders SJ, et al. The female protective effect against autism spectrum disorder. Cell Genomics. 2: 100134. PMID 36778135 DOI: 10.1016/j.xgen.2022.100134 |
0.327 |
|
| 2022 |
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. In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review. The American Journal of Psychiatry. appiajp21100992. PMID 36475375 DOI: 10.1176/appi.ajp.21100992 |
0.7 |
|
| 2022 |
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, ... ... Sanders SJ, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. PMID 35982160 DOI: 10.1038/s41588-022-01104-0 |
0.736 |
|
| 2022 |
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. High-throughput characterization of the role of non-B DNA motifs on promoter function. Cell Genomics. 2. PMID 35573091 DOI: 10.1016/j.xgen.2022.100111 |
0.528 |
|
| 2021 |
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. Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain. Genome Medicine. 13: 135. PMID 34425903 DOI: 10.1186/s13073-021-00949-0 |
0.796 |
|
| 2021 |
Cable J, Purcell RH, Robinson E, Vorstman JAS, Chung WK, Constantino JN, Sanders SJ, Sahin M, Dolmetsch RE, Shah BM, Thurm A, Martin CL, Bearden CE, Mulle JG. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. Annals of the New York Academy of Sciences. PMID 34342000 DOI: 10.1111/nyas.14658 |
0.429 |
|
| 2021 |
Schwab ME, Dong S, Lianoglou BR, Aguilar Lucero AF, Schwartz GB, Norton ME, MacKenzie TC, Sanders SJ. Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants. American Journal of Surgery. PMID 34315577 DOI: 10.1016/j.amjsurg.2021.07.016 |
0.644 |
|
| 2021 |
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. Prenatal exposure to paternal smoking and likelihood for autism spectrum disorder. Autism : the International Journal of Research and Practice. 13623613211007319. PMID 33878952 DOI: 10.1177/13623613211007319 |
0.642 |
|
| 2021 |
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. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. American Journal of Human Genetics. PMID 33675682 DOI: 10.1016/j.ajhg.2021.02.012 |
0.327 |
|
| 2020 |
Markenscoff-Papadimitriou E, Whalen S, Przytycki P, Thomas R, Binyameen F, Nowakowski TJ, Kriegstein AR, Sanders SJ, State MW, Pollard KS, Rubenstein JL. A Chromatin Accessibility Atlas of the Developing Human Telencephalon. Cell. PMID 32610082 DOI: 10.1016/J.Cell.2020.06.002 |
0.806 |
|
| 2020 |
Genç Ö, An JY, Fetter RD, Kulik Y, Zunino G, Sanders SJ, Davis GW. Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers. Elife. 9. PMID 32609087 DOI: 10.7554/Elife.55775 |
0.696 |
|
| 2020 |
Sanders SJ, Schwartz GB, Farh KK. Clinical impact of splicing in neurodevelopmental disorders. Genome Medicine. 12: 36. PMID 32331533 DOI: 10.1186/S13073-020-00737-2 |
0.483 |
|
| 2020 |
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, ... ... Sanders SJ, et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Reports. 31: 107489. PMID 32268104 DOI: 10.1016/J.Celrep.2020.03.053 |
0.823 |
|
| 2020 |
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, et al. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. PMID 32090326 DOI: 10.1111/Epi.16438 |
0.366 |
|
| 2020 |
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, ... ... Sanders SJ, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. PMID 31981491 DOI: 10.1016/J.Cell.2019.12.036 |
0.841 |
|
| 2020 |
Genç Ö, An J, Fetter RD, Kulik Y, Zunino G, Sanders SJ, Davis GW. Author response: Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers Elife. DOI: 10.7554/Elife.55775.Sa2 |
0.444 |
|
| 2020 |
Schwab ME, Dong S, Sanders SJ, MacKenzie TC. Whole-Exome Sequencing in Fetuses with Congenital Diaphragmatic Hernias: Known and Novel Genetic Mutation Journal of the American College of Surgeons. 231: S217. DOI: 10.1016/J.JAMCOLLSURG.2020.07.782 |
0.315 |
|
| 2020 |
Sparks TN, Lianoglou BR, Patel S, Adami R, Rangwala N, Pluym ID, Holliman K, Downum S, Amezcua J, Boe NM, Field NT, Gallagher R, Laurent LC, MacKenzie TC, Murphy AM, ... Sanders S, et al. 83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis American Journal of Obstetrics and Gynecology. 222: S68-S69. DOI: 10.1016/J.Ajog.2019.11.099 |
0.452 |
|
| 2019 |
Du J, Simmons S, Brunklaus A, Adiconis X, Hession CC, Fu Z, Li Y, Shema R, Møller RS, Barak B, Feng G, Meisler M, Sanders S, Lerche H, Campbell AJ, et al. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 31928904 DOI: 10.1016/J.Ejpn.2019.12.019 |
0.349 |
|
| 2019 |
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, et al. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nature Medicine. PMID 31548702 DOI: 10.1038/S41591-019-0581-5 |
0.609 |
|
| 2019 |
Spratt PWE, Ben-Shalom R, Keeshen CM, Burke KJ, Clarkson RL, Sanders SJ, Bender KJ. The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex. Neuron. PMID 31230762 DOI: 10.1016/J.Neuron.2019.05.037 |
0.398 |
|
| 2019 |
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, et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics. PMID 30827496 DOI: 10.1016/J.Ajhg.2019.01.010 |
0.485 |
|
| 2019 |
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, et al. Predicting Splicing from Primary Sequence with Deep Learning. Cell. PMID 30661751 DOI: 10.1016/J.Cell.2018.12.015 |
0.392 |
|
| 2019 |
Werling D, Pochareddy S, Choi J, An J, Sheppard B, Peng M, Santpere G, Gulden F, Breen M, Talkowski M, Roeder K, State M, Devlin B, Sanders S, Sestan N. 29 BRAINVAR DATA SET: WHOLE-GENOME AND RNA SEQUENCING REVEAL VARIATION AND TRANSCRIPTOMIC COORDINATION IN THE DEVELOPING HUMAN PREFRONTAL CORTEX European Neuropsychopharmacology. 29: S75-S76. DOI: 10.1016/J.Euroneuro.2019.07.170 |
0.785 |
|
| 2019 |
An J, Lin K, Zhu L, Werling D, Dong S, Brand H, Wang H, Zhao X, Sestan N, State M, Willsey J, Talkowski M, Devlin B, Roeder K, Sanders S. INSIGHTS INTO THE CONTRIBUTION OF RARE NONCODING VARIATION IN AUTISM SPECTRUM DISORDER THROUGH FAMILY-BASED WHOLE-GENOME SEQUENCING European Neuropsychopharmacology. 29: S36. DOI: 10.1016/J.Euroneuro.2019.07.073 |
0.833 |
|
| 2019 |
Satterstrom F, Kosmicki J, Wang J, Collins R, de Rubeis S, Breen M, Gerges S, Børglum A, Buxbaum J, Cutler D, Devlin B, Roeder K, Sanders S, Talkowski M, Daly M. 31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS European Neuropsychopharmacology. 29: S1083-S1084. DOI: 10.1016/J.Euroneuro.2018.08.038 |
0.485 |
|
| 2019 |
Werling D, Brand H, An J, Stone M, Glessner J, Zhu L, Collins R, Daly M, State M, Quinlan A, Marth G, Roeder K, Devlin B, Sanders S, Talkowski M. LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES European Neuropsychopharmacology. 29: S784-S785. DOI: 10.1016/J.Euroneuro.2017.08.010 |
0.855 |
|
| 2019 |
Willsey J, Fernandez T, Yu D, King R, Dietrich A, Xing J, Sanders S, Mandell J, Neale B, Coppola G, Mathews C, Tischfield J, Scharf J, State M, Heiman G. De Novo Coding Variants Are Strongly Associated with Tourette Syndrome European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.06.065 |
0.832 |
|
| 2018 |
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, ... ... Sanders SJ, et al. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science (New York, N.Y.). 362. PMID 30545854 DOI: 10.1126/Science.Aat7615 |
0.821 |
|
| 2018 |
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, ... ... Sanders SJ, et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science (New York, N.Y.). 362. PMID 30545852 DOI: 10.1126/Science.Aat6576 |
0.825 |
|
| 2018 |
Sanders SJ. Next-Generation Sequencing in Autism Spectrum Disorder. Cold Spring Harbor Perspectives in Medicine. PMID 30420340 DOI: 10.1101/Cshperspect.A026872 |
0.568 |
|
| 2018 |
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, ... ... Sanders SJ, et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nature Genetics. PMID 29700473 DOI: 10.1038/S41588-018-0107-Y |
0.824 |
|
| 2018 |
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, et al. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends in Neurosciences. PMID 29691040 DOI: 10.1016/J.Tins.2018.03.011 |
0.423 |
|
| 2018 |
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, ... ... Sanders SJ, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. American Journal of Human Genetics. PMID 29656859 DOI: 10.1016/J.Ajhg.2018.02.021 |
0.44 |
|
| 2018 |
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, et al. Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nature Neuroscience. PMID 29549319 DOI: 10.1038/S41593-018-0102-8 |
0.778 |
|
| 2017 |
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, et al. Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nature Neuroscience. 20: 1661-1668. PMID 29184211 DOI: 10.1038/S41593-017-0017-9 |
0.819 |
|
| 2017 |
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, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics. 101: 768-788. PMID 29100089 DOI: 10.1016/J.Ajhg.2017.10.003 |
0.733 |
|
| 2017 |
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, ... ... Sanders SJ, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics. PMID 28991257 DOI: 10.1038/Ng.3970 |
0.609 |
|
| 2017 |
Grzadzinski R, Lord C, Sanders SJ, Werling D, Bal VH. Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection. Autism Research : Official Journal of the International Society For Autism Research. PMID 28861935 DOI: 10.1002/Aur.1856 |
0.785 |
|
| 2017 |
An JY, Sanders SJ. Appreciating the Population-wide Impact of Copy Number Variants on Cognition. Biological Psychiatry. 82: 78-80. PMID 28645357 DOI: 10.1016/J.Biopsych.2017.05.010 |
0.547 |
|
| 2017 |
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, ... ... Sanders SJ, et al. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nature Genetics. PMID 28504703 DOI: 10.1038/Ng.3863 |
0.478 |
|
| 2017 |
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, et al. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron. 94: 486-499.e9. PMID 28472652 DOI: 10.1016/J.Neuron.2017.04.024 |
0.844 |
|
| 2017 |
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, et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. 100: 689. PMID 28388435 DOI: 10.1016/J.Ajhg.2017.03.003 |
0.407 |
|
| 2017 |
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, ... ... Sanders SJ, et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biology. 18: 36. PMID 28260531 DOI: 10.1186/S13059-017-1158-6 |
0.639 |
|
| 2017 |
Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. Biological Psychiatry. PMID 28256214 DOI: 10.1016/J.Biopsych.2017.01.009 |
0.427 |
|
| 2017 |
Bishop SL, Farmer C, Bal V, Robinson EB, Willsey AJ, Werling DM, Havdahl KA, Sanders SJ, Thurm A. Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder. The American Journal of Psychiatry. appiajp201716101115. PMID 28253736 DOI: 10.1176/Appi.Ajp.2017.16101115 |
0.85 |
|
| 2017 |
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, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nature Genetics. PMID 28191890 DOI: 10.1038/Ng.3789 |
0.555 |
|
| 2017 |
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 28132691 DOI: 10.1016/J.Ajhg.2017.01.003 |
0.483 |
|
| 2017 |
Krasileva KE, Sanders SJ, Bal VH. Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. PMID 28132124 DOI: 10.1007/S10803-017-3030-7 |
0.449 |
|
| 2017 |
Stanley R, Martin P, Ross A, Freitas A, Iafrati J, Moyer C, Brumback A, Pirooznia M, McCombie WR, Potash J, Zandi P, Purcell S, Sanders S, Zuo Y, Sohal V, et al. 706 - Wnt/β-Catenin Pathway Contributions to Dendritic Spine and Glutamatergic Synapse Formation Responsive to Lithium-Mediated GSK3 Inhibition Biological Psychiatry. 81. DOI: 10.1016/J.Biopsych.2017.02.773 |
0.309 |
|
| 2016 |
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, ... ... Sanders SJ, et al. DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling. Molecular Psychiatry. PMID 27752079 DOI: 10.1038/Mp.2016.184 |
0.336 |
|
| 2016 |
Ho TC, Sanders SJ, Gotlib IH, Hoeft F. Intergenerational Neuroimaging of Human Brain Circuitry. Trends in Neurosciences. PMID 27623194 DOI: 10.1016/J.Tins.2016.08.003 |
0.328 |
|
| 2016 |
Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. American Journal of Human Genetics. PMID 27569545 DOI: 10.1016/J.Ajhg.2016.06.036 |
0.592 |
|
| 2016 |
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, et al. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry. 6: e764. PMID 27023170 DOI: 10.1038/Tp.2016.30 |
0.538 |
|
| 2016 |
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, ... ... Sanders SJ, et al. Frequency and Complexity of De Novo Structural Mutation in Autism. American Journal of Human Genetics. PMID 27018473 DOI: 10.1016/J.Ajhg.2016.02.018 |
0.534 |
|
| 2016 |
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, et al. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nature Genetics. PMID 26998691 DOI: 10.1038/Ng.3529 |
0.485 |
|
| 2016 |
Bishop SL, Veenstra-VanderWeele J, Sanders SJ. Attention Finally Being Paid to Girls at Risk of Autism. Journal of the American Academy of Child and Adolescent Psychiatry. 55: 159-60. PMID 26903248 DOI: 10.1016/J.Jaac.2015.12.013 |
0.309 |
|
| 2016 |
Werling DM, Sanders SJ. Gene coexpression modules in human cognition. Nature Neuroscience. 19: 173-5. PMID 26814582 DOI: 10.1038/Nn.4226 |
0.805 |
|
| 2016 |
Bishop S, Farmer C, Bal VH, Robinson E, Sanders S, Havdahl A, Thurn A. Phenotype-genotype associations in the Simons Simplex Collection for autism spectrum disorder European Neuropsychopharmacology. 26. DOI: 10.1016/S0924-977X(16)30974-9 |
0.471 |
|
| 2015 |
Lin Z, Sanders SJ, Li M, Sestan N, State MW, Zhao H. A MARKOV RANDOM FIELD-BASED APPROACH TO CHARACTERIZING HUMAN BRAIN DEVELOPMENT USING SPATIAL-TEMPORAL TRANSCRIPTOME DATA. The Annals of Applied Statistics. 9: 429-451. PMID 26877824 DOI: 10.1214/14-Aoas802 |
0.694 |
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| 2015 |
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, ... ... Sanders SJ, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.). 350: 1262-6. PMID 26785492 DOI: 10.1126/Science.Aac9396 |
0.572 |
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| 2015 |
Sanders SJ. First glimpses of the neurobiology of autism spectrum disorder. Current Opinion in Genetics & Development. 33: 80-92. PMID 26547130 DOI: 10.1016/J.Gde.2015.10.002 |
0.483 |
|
| 2015 |
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, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016 |
0.832 |
|
| 2015 |
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. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. American Journal of Human Genetics. 97: 170-6. PMID 26094575 DOI: 10.1016/J.Ajhg.2015.05.012 |
0.465 |
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| 2015 |
Halladay AK, Bishop S, Constantino JN, Daniels AM, Koenig K, Palmer K, Messinger D, Pelphrey K, Sanders SJ, Singer AT, Taylor JL, Szatmari P. Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority. Molecular Autism. 6: 36. PMID 26075049 DOI: 10.1186/S13229-015-0019-Y |
0.371 |
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| 2015 |
Gockley J, Willsey AJ, Dong S, Dougherty JD, Constantino JN, Sanders SJ. The female protective effect in autism spectrum disorder is not mediated by a single genetic locus. Molecular Autism. 6: 25. PMID 25973162 DOI: 10.1186/S13229-015-0014-3 |
0.82 |
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| 2015 |
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, et al. Loss of δ-catenin function in severe autism. Nature. 520: 51-6. PMID 25807484 DOI: 10.1038/Nature14186 |
0.762 |
|
| 2015 |
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, et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nature Communications. 6: 6404. PMID 25752243 DOI: 10.1038/Ncomms7404 |
0.83 |
|
| 2015 |
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, et al. 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 Genetics. 11: e1004852. PMID 25621974 DOI: 10.1371/Journal.Pgen.1004852 |
0.826 |
|
| 2015 |
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, et al. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry. 77: 775-84. PMID 25534755 DOI: 10.1016/J.Biopsych.2014.09.017 |
0.831 |
|
| 2015 |
Chang J, Gilman SR, Chiang AH, Sanders SJ, Vitkup D. Genotype to phenotype relationships in autism spectrum disorders. Nature Neuroscience. 18: 191-8. PMID 25531569 DOI: 10.1038/Nn.3907 |
0.508 |
|
| 2015 |
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, et al. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal of Human Genetics : Ejhg. 23: 165-72. PMID 24781755 DOI: 10.1038/Ejhg.2014.82 |
0.79 |
|
| 2015 |
Lin Z, Sanders SJ, Li M, Sestan N, State MW, Zhao H. A markov random field-based approach to characterizing human brain development using spatial–temporal transcriptome data Annals of Applied Statistics. 9: 429-451. DOI: 10.1214/14-AOAS802 |
0.647 |
|
| 2015 |
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, ... ... Sanders SJ, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Science. 350: 1262-1266. DOI: 10.1126/science.aac9396 |
0.515 |
|
| 2015 |
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. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation American Journal of Human Genetics. 97: 170-176. DOI: 10.1016/j.ajhg.2015.05.012 |
0.358 |
|
| 2014 |
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, et al. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry. PMID 25385366 DOI: 10.1038/Mp.2014.141 |
0.824 |
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| 2014 |
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, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/Nature13908 |
0.818 |
|
| 2014 |
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, ... ... Sanders SJ, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772 |
0.832 |
|
| 2014 |
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, ... ... Sanders SJ, et al. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Reports. 9: 16-23. PMID 25284784 DOI: 10.1016/J.Celrep.2014.08.068 |
0.847 |
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| 2014 |
Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research. 115: 884-96. PMID 25205790 DOI: 10.1161/Circresaha.115.304458 |
0.786 |
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| 2014 |
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, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/Ng.3050 |
0.483 |
|
| 2014 |
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, et al. Most genetic risk for autism resides with common variation. Nature Genetics. 46: 881-5. PMID 25038753 DOI: 10.1038/Ng.3039 |
0.485 |
|
| 2014 |
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, et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research : Official Journal of the International Society For Autism Research. 7: 355-62. PMID 24821083 DOI: 10.1002/Aur.1378 |
0.839 |
|
| 2014 |
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, et al. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Molecular Autism. 5: 22. PMID 24602502 DOI: 10.1186/2040-2392-5-22 |
0.844 |
|
| 2014 |
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. High rate of disease-related copy number variations in childhood onset schizophrenia. Molecular Psychiatry. 19: 568-72. PMID 23689535 DOI: 10.1038/Mp.2013.59 |
0.736 |
|
| 2014 |
Moreno-De-Luca D, Moreno-De-Luca A, Cubells JF, Sanders SJ. Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci Current Genetic Medicine Reports. 2: 151-161. DOI: 10.1007/S40142-014-0045-7 |
0.503 |
|
| 2013 |
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, et al. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 155: 997-1007. PMID 24267886 DOI: 10.1016/J.Cell.2013.10.020 |
0.84 |
|
| 2013 |
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. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/Journal.Pgen.1003671 |
0.797 |
|
| 2013 |
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, ... ... Sanders SJ, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.818 |
|
| 2013 |
Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM. Intellectual disability is associated with increased runs of homozygosity in simplex autism. American Journal of Human Genetics. 93: 103-9. PMID 23830515 DOI: 10.1016/J.Ajhg.2013.06.004 |
0.826 |
|
| 2013 |
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, et al. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74: 576-84. PMID 23746936 DOI: 10.1016/J.Biopsych.2013.04.018 |
0.812 |
|
| 2013 |
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, ... ... Sanders SJ, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141 |
0.771 |
|
| 2013 |
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, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 77: 259-73. PMID 23352163 DOI: 10.1016/J.Neuron.2012.11.002 |
0.801 |
|
| 2013 |
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, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029 |
0.788 |
|
| 2013 |
Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Molecular Psychiatry. 18: 1090-5. PMID 23044707 DOI: 10.1038/Mp.2012.138 |
0.838 |
|
| 2012 |
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, ... ... Sanders S, et al. Copy-number disorders are a common cause of congenital kidney malformations. American Journal of Human Genetics. 91: 987-97. PMID 23159250 DOI: 10.1016/J.Ajhg.2012.10.007 |
0.806 |
|
| 2012 |
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, et al. Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism. 3: 9. PMID 23067556 DOI: 10.1186/2040-2392-3-9 |
0.831 |
|
| 2012 |
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, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). 338: 394-7. PMID 22956686 DOI: 10.1126/Science.1224631 |
0.792 |
|
| 2012 |
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. Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. American Journal of Human Genetics. 91: 38-55. PMID 22726847 DOI: 10.1016/J.Ajhg.2012.05.011 |
0.817 |
|
| 2012 |
Griesi-Oliveira K, Moreira Dde P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 529-36. PMID 22592906 DOI: 10.1002/Ajmg.B.32059 |
0.766 |
|
| 2012 |
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, ... ... Sanders SJ, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences of the United States of America. 109: 7974-81. PMID 22566635 DOI: 10.1073/Pnas.1120210109 |
0.557 |
|
| 2012 |
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, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485: 237-41. PMID 22495306 DOI: 10.1038/Nature10945 |
0.842 |
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| 2012 |
Ercan-Sencicek AG, Davis Wright NR, Sanders SJ, Oakman N, Valdes L, Bakkaloglu B, Doyle N, Yrigollen CM, Morgan TM, Grigorenko EL. A balanced t(10;15) translocation in a male patient with developmental language disorder. European Journal of Medical Genetics. 55: 128-31. PMID 22266071 DOI: 10.1016/J.Ejmg.2011.12.005 |
0.378 |
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| 2012 |
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. Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. Brain & Development. 34: 700-3. PMID 22178197 DOI: 10.1016/J.Braindev.2011.11.003 |
0.704 |
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| 2012 |
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, et al. Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biological Psychiatry. 71: 392-402. PMID 22169095 DOI: 10.1016/J.Biopsych.2011.09.034 |
0.83 |
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| 2011 |
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, et al. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics. 20: 4360-70. PMID 21865298 DOI: 10.1093/Hmg/Ddr363 |
0.774 |
|
| 2011 |
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, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.825 |
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| 2011 |
Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, et al. Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630)) American Journal of Human Genetics. 88. DOI: 10.1016/J.Ajhg.2010.12.005 |
0.371 |
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| 2010 |
Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. American Journal of Human Genetics. 87: 618-30. PMID 21055719 DOI: 10.1016/J.Ajhg.2010.10.004 |
0.479 |
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| 2010 |
Mason CE, Zumbo P, Sanders S, Folk M, Robinson D, Aydt R, Gollery M, Welsh M, Olson NE, Smith TM. Standardizing the next generation of bioinformatics software development with BioHDF (HDF5). Advances in Experimental Medicine and Biology. 680: 693-700. PMID 20865556 DOI: 10.1007/978-1-4419-5913-3_77 |
0.476 |
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| 2010 |
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizo?lu D, Tüysüz B, Ca?layan AO, Gökben S, Kaymakçalan H, Barak T, Bakircio?lu M, Yasuno K, Ho W, ... Sanders S, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 467: 207-10. PMID 20729831 DOI: 10.1038/Nature09327 |
0.778 |
|
| 2010 |
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, ... ... Sanders S, et al. L-histidine decarboxylase and Tourette's syndrome. The New England Journal of Medicine. 362: 1901-8. PMID 20445167 DOI: 10.1056/Nejmoa0907006 |
0.807 |
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| 2003 |
Sanders SJ, Suri M, Ross I. Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis. Postgraduate Medical Journal. 79: 600-601. PMID 14612607 DOI: 10.1136/Pmj.79.936.600 |
0.395 |
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