| The role of nuclear bodies in gene expression and disease M Morimoto, CF Boerkoel Biology 2 (3), 976-1033, 2013 | 94 | 2013 |
| IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 92 | 2018 |
| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 77 | 2019 |
| Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome C Li, JM Brazill, S Liu, C Bello, Y Zhu, M Morimoto, L Cascio, R Pauly, ... Nature communications 8 (1), 1257, 2017 | 74 | 2017 |
| Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression A Baradaran-Heravi, KS Cho, B Tolhuis, M Sanyal, O Morozova, ... Human molecular genetics 21 (11), 2572-2587, 2012 | 73 | 2012 |
| Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 72 | 2018 |
| Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 71 | 2019 |
| 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 | 60 | 2019 |
| Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ... Epilepsia 60 (3), 406-418, 2019 | 60 | 2019 |
| 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 | 49 | 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 | 45 | 2020 |
| Dental abnormalities in Schimke immuno-osseous dysplasia M Morimoto, O Kerouredan, M Gendronneau, C Shuen, ... Journal of dental research 91 (7_suppl), S29-S37, 2012 | 44 | 2012 |
| Chediak-Higashi syndrome: a review of the past, present, and future P Sharma, ER Nicoli, J Serra-Vinardell, M Morimoto, C Toro, ... Drug Discovery Today: Disease Models 31, 31-36, 2020 | 42 | 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 | 41 | 2020 |
| Schimke immunoosseous dysplasia M Morimoto, DB Lewis, T Lücke, CF Boerkoel | 41* | 2016 |
| Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? M Morimoto, Z Yu, P Stenzel, JM Clewing, B Najafian, C Mayfield, ... Orphanet journal of rare diseases 7 (1), 1-17, 2012 | 39 | 2012 |
| De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects A Accogli, S Calabretta, J St-Onge, N Boudrahem-Addour, ... The American Journal of Human Genetics 105 (4), 854-868, 2019 | 36 | 2019 |
| Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features QKG Tan, H Cope, RC Spillmann, N Stong, YH Jiang, MT McDonald, ... Molecular Case Studies 4 (5), a003046, 2018 | 33 | 2018 |
| Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability V Maduro, BN Pusey, PF Cherukuri, P Atkins, C du Souich, R Rupps, ... Orphanet journal of rare diseases 11, 1-15, 2016 | 28 | 2016 |
| Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes LC Burrage, JJ Reynolds, NV Baratang, JB Phillips, J Wegner, ... The American Journal of Human Genetics 104 (3), 422-438, 2019 | 27 | 2019 |
