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Shan Chen
Shan Chen
Baylor College of Medicine
Verified email at bcm.tmc.edu
Title
Cited by
Cited by
Year
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ...
The Journal of clinical investigation 131 (1), 2021
1112021
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
912018
Alteration of Notch signaling in skeletal development and disease
J Tao, S Chen, B Lee
Annals of the New York Academy of Sciences 1192 (1), 257-268, 2010
842010
Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms
H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ...
Neuron 106 (4), 589-606. e6, 2020
832020
Notch gain of function inhibits chondrocyte differentiation via Rbpj‐dependent suppression of Sox9
S Chen, J Tao, Y Bae, MM Jiang, T Bertin, Y Chen, T Yang, B Lee
Journal of Bone and Mineral Research 28 (3), 649-659, 2013
802013
Osteosclerosis owing to Notch gain of function is solely Rbpj‐dependent
J Tao, S Chen, T Yang, B Dawson, E Munivez, T Bertin, B Lee
Journal of Bone and Mineral Research 25 (10), 2175-2183, 2010
792010
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ...
Annals of clinical and translational neurology 5 (10), 1277-1285, 2018
732018
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
722018
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
702019
Notch signaling in skeletal stem cells
S Chen, BH Lee, Y Bae
Calcified tissue international 94, 68-77, 2014
622014
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
602019
Argininosuccinate lyase deficiency causes an endothelial-dependent form of hypertension
J Kho, X Tian, WT Wong, T Bertin, MM Jiang, S Chen, Z Jin, ...
The American Journal of Human Genetics 103 (2), 276-287, 2018
492018
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
AT Egunsola, Y Bae, MM Jiang, DS Liu, Y Chen-Evenson, T Bertin, ...
The Journal of clinical investigation 127 (4), 1475-1484, 2017
492017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
LDM Pena, YH Jiang, K Schoch, RC Spillmann, N Walley, N Stong, ...
Genetics in medicine 20 (4), 464-469, 2018
472018
E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironment
T Yang, I Grafe, Y Bae, S Chen, Y Chen, TK Bertin, MM Jiang, ...
Proceedings of the National Academy of Sciences 110 (18), 7336-7341, 2013
452013
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta
A Tam, S Chen, E Schauer, I Grafe, V Bandi, JR Shapiro, RD Steiner, ...
Clinical genetics 94 (6), 502-511, 2018
372018
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
332018
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
272019
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome
H Dai, VW Zhang, AW El‐Hattab, C Ficicioglu, M Shinawi, M Lines, ...
Clinical genetics 91 (4), 634-639, 2017
252017
Arginase overexpression in neurons and its effect on traumatic brain injury
S Madan, B Kron, Z Jin, G Al Shamy, PM Campeau, Q Sun, S Chen, ...
Molecular genetics and metabolism 125 (1-2), 112-117, 2018
242018
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