Clinical application of whole-exome sequencing across clinical indications K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ... Genetics in Medicine 18 (7), 696-704, 2016 | 1060 | 2016 |
Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ... The American Journal of Human Genetics 97 (3), 457-464, 2015 | 179 | 2015 |
Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 175 | 2020 |
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020 | 142 | 2020 |
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features E Tham, A Lindstrand, A Santani, H Malmgren, A Nesbitt, HA Dubbs, ... The American Journal of Human Genetics 96 (3), 507-513, 2015 | 136 | 2015 |
Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 100 | 2021 |
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder P Huppke, S Weissbach, JA Church, R Schnur, M Krusen, ... Nature communications 8 (1), 818, 2017 | 81 | 2017 |
Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy DT Burns, S Donkervoort, JS Müller, E Knierim, D Bharucha-Goebel, ... The American Journal of Human Genetics 102 (5), 858-873, 2018 | 78 | 2018 |
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations CA Chen, DGM Bosch, MT Cho, JA Rosenfeld, M Shinawi, RA Lewis, ... Genetics in Medicine 18 (11), 1143-1150, 2016 | 78 | 2016 |
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly Y Ye, MT Cho, K Retterer, N Alexander, T Ben-Omran, M Al-Mureikhi, ... Molecular Case Studies 1 (1), a000455, 2015 | 71 | 2015 |
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants JN Dines, K Golden-Grant, A LaCroix, AM Muir, DL Cintrón, K McWalter, ... Genetics in Medicine 21 (3), 601-607, 2019 | 65 | 2019 |
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features G Kellaris, K Khan, SM Baig, IC Tsai, FM Zamora, P Ruggieri, ... Human Genomics 12, 1-9, 2018 | 65 | 2018 |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia ER Berko, MT Cho, C Eng, Y Shao, DA Sweetser, J Waxler, NH Robin, ... Journal of medical genetics 54 (2), 84-86, 2017 | 62 | 2017 |
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder F Millan, MT Cho, K Retterer, KG Monaghan, R Bai, P Vitazka, ... American journal of medical genetics Part A 170 (7), 1791-1798, 2016 | 61 | 2016 |
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies MD Fountain, DS Oleson, ME Rech, L Segebrecht, JV Hunter, ... Genetics in medicine 21 (8), 1797-1807, 2019 | 58 | 2019 |
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature P Hemati, A Revah‐Politi, H Bassan, S Petrovski, CG Bilancia, K Ramsey, ... American journal of medical genetics Part A 176 (11), 2259-2275, 2018 | 58 | 2018 |
A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 55 | 2017 |
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 52 | 2021 |
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy Y Peng, DN Shinde, CA Valencia, JS Mo, J Rosenfeld, M Truitt Cho, ... Human molecular genetics 26 (24), 4937-4950, 2017 | 48 | 2017 |
Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome YA Zarate, L Kalsner, A Basinger, JR Jones, C Li, M Szybowska, ZL Xu, ... Clinical genetics 92 (4), 423-429, 2017 | 46 | 2017 |