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Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 270 | 2015 |
The usefulness of whole-exome sequencing in routine clinical practice A Iglesias, K Anyane-Yeboa, J Wynn, A Wilson, M Truitt Cho, E Guzman, ... Genetics in Medicine 16 (12), 922-931, 2014 | 253 | 2014 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 195 | 2017 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 175 | 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 | 173 | 2015 |
Functional dysregulation of CDC42 causes diverse developmental phenotypes S Martinelli, OHF Krumbach, F Pantaleoni, S Coppola, E Amin, ... The American Journal of Human Genetics 102 (2), 309-320, 2018 | 156 | 2018 |
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 145 | 2017 |
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 | 126 | 2020 |
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ... Cell 172 (5), 924-936. e11, 2018 | 126 | 2018 |
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families MD Fountain, E Aten, MT Cho, J Juusola, MA Walkiewicz, JW Ray, F Xia, ... Genetics in Medicine 19 (1), 45-52, 2017 | 119 | 2017 |
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 | 115 | 2017 |
The role of hope in adaptation to uncertainty: The experience of caregivers of children with Down syndrome M Truitt, B Biesecker, G Capone, T Bailey, L Erby Patient Education and Counseling 82 (2), 233-238, 2012 | 115 | 2012 |
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ... Nature medicine 27 (7), 1197-1204, 2021 | 105 | 2021 |
De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome JH Kim, DN Shinde, MRF Reijnders, NS Hauser, RL Belmonte, GR Wilson, ... The American Journal of Human Genetics 99 (3), 711-719, 2016 | 102 | 2016 |
Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity DJ Parente, C Garriga, B Baskin, G Douglas, MT Cho, GC Araujo, ... American journal of medical genetics Part A 173 (1), 213-216, 2017 | 94 | 2017 |
Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome CK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ... The American Journal of Human Genetics 103 (4), 621-630, 2018 | 92 | 2018 |
De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions B Fregeau, BJ Kim, A Hernández-García, VK Jordan, MT Cho, RE Schnur, ... The American Journal of Human Genetics 98 (5), 963-970, 2016 | 91 | 2016 |