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James P. Orengo
James P. Orengo
Department of Neurology, Baylor College of Medicine
在 bcm.edu 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
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
2292008
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
1472006
Alternative splicing in disease
JP Orengo, TA Cooper
Alternative Splicing in the Postgenomic Era, 212-223, 2007
752007
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
702019
Alternative splicing dysregulation secondary to skeletal muscle regeneration
JP Orengo, AJ Ward, TA Cooper
Annals of neurology 69 (4), 681-690, 2011
682011
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
632019
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
512019
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
482020
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
462020
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
382019
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
352018
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
342018
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
322021
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
282019
Delayed bupropion cardiotoxicity associated with elevated serum concentrations of bupropion but not hydroxybupropion
SA Al-Abri, JP Orengo, S Hayashi, KL Thoren, NL Benowitz, KR Olson
Clinical Toxicology 51 (10), 1230-1234, 2013
282013
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
262019
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
202021
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
182020
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
172021
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
B Tepe, EL Macke, M Niceta, MW Hubshman, O Kanca, L Schultz-Rogers, ...
The American Journal of Human Genetics 110 (5), 774-789, 2023
162023
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