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 | 66 | 2019 |
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 62 | 2021 |
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ... Molecular genetics & genomic medicine 8 (11), e1508, 2020 | 61 | 2020 |
Ethical considerations related to return of results from genomic medicine projects: the eMERGE network (phase III) experience R Fossey, D Kochan, E Winkler, JE Pacyna, J Olson, S Thibodeau, ... Journal of personalized medicine 8 (1), 2, 2018 | 56 | 2018 |
seqr: A web‐based analysis and collaboration tool for rare disease genomics LS Pais, H Snow, B Weisburd, S Zhang, SM Baxter, S DiTroia, E O'Heir, ... Human mutation 43 (6), 698-707, 2022 | 47 | 2022 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
Bi-allelic ADARB1 variants associated with microcephaly, intellectual disability, and seizures TY Tan, J Sedmík, MP Fitzgerald, RS Halevy, LP Keegan, I Helbig, ... The American Journal of Human Genetics 106 (4), 467-483, 2020 | 42 | 2020 |
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly G Chai, A Webb, C Li, D Antaki, S Lee, MW Breuss, N Lang, V Stanley, ... Neuron 109 (2), 241-256. e9, 2021 | 33 | 2021 |
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder LK Jones, R Lam, KK McKee, M Aleksandrova, J Dowling, SI Alexander, ... Development 147 (21), dev189183, 2020 | 32 | 2020 |
POLRMT mutations impair mitochondrial transcription causing neurological disease M Oláhová, B Peter, Z Szilagyi, H Diaz-Maldonado, M Singh, ... Nature communications 12 (1), 1135, 2021 | 31 | 2021 |
Bi-allelic variations of SMO in humans cause a broad spectrum of developmental anomalies due to abnormal hedgehog signaling TL Le, Y Sribudiani, X Dong, C Huber, C Kois, G Baujat, CT Gordon, ... The American Journal of Human Genetics 106 (6), 779-792, 2020 | 27 | 2020 |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 26 | 2023 |
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, ... Genetics in Medicine 22 (7), 1215-1226, 2020 | 25 | 2020 |
Phenotype delineation of ZNF462 related syndrome P Kruszka, T Hu, S Hong, R Signer, B Cogné, B Isidor, SE Mazzola, ... American Journal of Medical Genetics Part A 179 (10), 2075-2082, 2019 | 25 | 2019 |
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features D Li, Q Wang, NN Gong, A Kurolap, HB Feldman, N Boy, M Brugger, ... Science advances 7 (20), eabf2066, 2021 | 24 | 2021 |
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder M Broly, BV Polevoda, KM Awayda, N Tong, J Lentini, T Besnard, W Deb, ... The American Journal of Human Genetics 109 (4), 587-600, 2022 | 23 | 2022 |
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 G Helman, AG Compton, DH Hock, M Walkiewicz, GR Brett, L Pais, ... Human mutation 42 (1), 19-24, 2021 | 23 | 2021 |
Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, J Iwaszkiewicz, ... The American Journal of Human Genetics 104 (6), 1073-1087, 2019 | 23 | 2019 |
A form of muscular dystrophy associated with pathogenic variants in JAG2 S Coppens, AM Barnard, S Puusepp, S Pajusalu, K Õunap, ... The American Journal of Human Genetics 108 (5), 840-856, 2021 | 22 | 2021 |
Variants in mitochondrial ATP synthase cause variable neurologic phenotypes M Zech, R Kopajtich, K Steinbrücker, C Bris, N Gueguen, RG Feichtinger, ... Annals of neurology 91 (2), 225-237, 2022 | 20 | 2022 |