| Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy JP Orengo, P Chambon, D Metzger, DR Mosier, GJ Snipes, TA Cooper Proceedings of the National Academy of Sciences 105 (7), 2646-2651, 2008 | 224 | 2008 |
| A bichromatic fluorescent reporter for cell-based screens of alternative splicing JP Orengo, D Bundman, TA Cooper Nucleic acids research 34 (22), e148-e148, 2006 | 143 | 2006 |
| Alternative splicing in disease JP Orengo, TA Cooper Alternative Splicing in the Postgenomic Era, 212-223, 2007 | 73 | 2007 |
| Alternative splicing dysregulation secondary to skeletal muscle regeneration JP Orengo, AJ Ward, TA Cooper Annals of neurology 69 (4), 681-690, 2011 | 67 | 2011 |
| 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 |
| 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 | 40 | 2020 |
| 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 |
| Motor neuron degeneration correlates with respiratory dysfunction in SCA1 JP Orengo, ME van der Heijden, S Hao, J Tang, HT Orr, HY Zoghbi Disease Models & Mechanisms 11 (2), dmm032623, 2018 | 33 | 2018 |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science K Schoch, C Esteves, A Bican, R Spillmann, H Cope, A McConkie-Rosell, ... Genetics in medicine 23 (2), 259-271, 2021 | 29 | 2021 |
| 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 |
| Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis V Shashi, J Geist, Y Lee, Y Yoo, U Shin, K Schoch, J Sullivan, N Stong, ... Human mutation 40 (8), 1115-1126, 2019 | 24 | 2019 |
| Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1 L Nitschke, SL Coffin, E Xhako, DB El-Najjar, JP Orengo, E Alcala, Y Dai, ... JCI insight 6 (3), 2021 | 16 | 2021 |
| Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network H Cope, R Spillmann, JA Rosenfeld, E Brokamp, R Signer, K Schoch, ... Molecular Genetics & Genomic Medicine 8 (10), e1397, 2020 | 16 | 2020 |
| Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey H Cope, H Barseghyan, S Bhattacharya, Y Fu, N Hoppman, C Marcou, ... Molecular genetics & genomic medicine 9 (7), e1665, 2021 | 15 | 2021 |
| Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature DL Johnstone, TTM Nguyen, J Zambonin, KD Kernohan, A St‐Denis, ... Journal of inherited metabolic disease 43 (6), 1321-1332, 2020 | 15 | 2020 |
| Charcot Marie Tooth disease type 4J with complex central nervous system features JP Orengo, P Khemani, JW Day, J Li, CE Siskind Annals of Clinical and Translational Neurology 5 (2), 222-225, 2018 | 15 | 2018 |
Thomas A CooperBaylor College of MedicineDirección de correo verificada de bcm.edu
