| Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ... Nature 515 (7526), 209-215, 2014 | 2948 | 2014 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 1021 | 2017 |
| Rare coding variants in ten genes confer substantial risk for schizophrenia T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ... Nature 604 (7906), 509-516, 2022 | 746* | 2022 |
| Pdx1 maintains β cell identity and function by repressing an α cell program T Gao, B McKenna, C Li, M Reichert, J Nguyen, T Singh, C Yang, ... Cell metabolism 19 (2), 259-271, 2014 | 477 | 2014 |
| Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders T Singh, MI Kurki, D Curtis, SM Purcell, L Crooks, J McRae, J Suvisaari, ... Nature neuroscience 19 (4), 571-577, 2016 | 458 | 2016 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 447 | 2016 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 289 | 2018 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 273 | 2019 |
| The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability T Singh, JTR Walters, M Johnstone, D Curtis, J Suvisaari, M Torniainen, ... Nature genetics 49 (8), 1167-1173, 2017 | 259 | 2017 |
| Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants FK Satterstrom, RK Walters, T Singh, EM Wigdor, F Lescai, D Demontis, ... Nature neuroscience 22 (12), 1961-1965, 2019 | 236 | 2019 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 236 | 2018 |
| Hippo signaling regulates differentiation and maintenance in the exocrine pancreas T Gao, D Zhou, C Yang, T Singh, A Penzo–Méndez, R Maddipati, ... Gastroenterology 144 (7), 1543-1553. e1, 2013 | 180 | 2013 |
| Complement C1q-dependent excitatory and inhibitory synapse elimination by astrocytes and microglia in Alzheimer’s disease mouse models B Dejanovic, T Wu, MC Tsai, D Graykowski, VD Gandham, CM Rose, ... Nature Aging 2 (9), 837-850, 2022 | 165 | 2022 |
| Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations DP Howrigan, SA Rose, KE Samocha, M Fromer, F Cerrato, WJ Chen, ... Nature neuroscience 23 (2), 185-193, 2020 | 156 | 2020 |
| Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia DS Palmer, DP Howrigan, SB Chapman, R Adolfsson, N Bass, ... Nature genetics 54 (5), 541-547, 2022 | 129 | 2022 |
| Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania SN Mtatiro, T Singh, H Rooks, J Mgaya, H Mariki, D Soka, B Mmbando, ... PloS one 9 (11), e111464, 2014 | 101 | 2014 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 79 | 2019 |
| Contribution of retrotransposition to developmental disorders EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ... Nature Communications 10 (1), 4630, 2019 | 67 | 2019 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 62 | 2019 |
| Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ... BioRxiv, 049056, 2016 | 51 | 2016 |
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstitutePatvirtintas el. paštas atgu.mgh.harvard.edu
