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| 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 | 119 | 2017 |
| AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission CM Yrigollen, L Martorell, B Durbin-Johnson, M Naudo, J Genoves, ... Journal of neurodevelopmental disorders 6, 1-12, 2014 | 115 | 2014 |
| Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X … C Pastori, VJ Peschansky, D Barbouth, A Mehta, JP Silva, C Wahlestedt Human genetics 133, 59-67, 2014 | 112 | 2014 |
| Genotype–phenotype analysis of 4q deletion syndrome: proposal of a critical region EM Strehle, L Yu, JA Rosenfeld, S Donkervoort, Y Zhou, TJ Chen, ... American journal of medical genetics Part A 158 (9), 2139-2151, 2012 | 88 | 2012 |
| Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships NA Al-Sannaa, L Bay, DS Barbouth, Y Benhayoun, C Goizet, N Guelbert, ... Orphanet journal of rare diseases 10, 1-9, 2015 | 80 | 2015 |
| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 68 | 2019 |
| Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia C Guissart, X Latypova, P Rollier, TN Khan, H Stamberger, K McWalter, ... The American Journal of Human Genetics 102 (5), 744-759, 2018 | 65 | 2018 |
| MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects AW El‐Hattab, J Wang, H Dai, M Almannai, C Staufner, M Alfadhel, ... Human mutation 39 (4), 461-470, 2018 | 55 | 2018 |
| De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 51 | 2019 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 46 | 2020 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 45 | 2020 |
| Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy NJ Weinreb, DS Barbouth, RE Lee Blood Cells, Molecules, and Diseases 68, 211-217, 2018 | 43 | 2018 |
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| Macrocephaly‐capillary malformation: A report of three cases and review of the literature ME Gonzalez, CJ Burk, DS Barbouth, EA Connelly Pediatric dermatology 26 (3), 342-346, 2009 | 36 | 2009 |
| Gaucher disease and SARS-CoV-2 infection: Emerging management challenges P Mistry, M Balwani, D Barbouth, TA Burrow, EI Ginns, O Goker-Alpan, ... Molecular genetics and metabolism 130 (3), 164-169, 2020 | 33 | 2020 |
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