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 | 112 | 2021 |
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 | 93 | 2018 |
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 | 85 | 2010 |
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 | 84 | 2020 |
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 | 80 | 2013 |
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 | 79 | 2010 |
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 | 73 | 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 | 72 | 2019 |
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 |
Notch signaling in skeletal stem cells S Chen, BH Lee, Y Bae Calcified tissue international 94, 68-77, 2014 | 62 | 2014 |
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 |
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 | 50 | 2018 |
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 | 50 | 2017 |
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 | 48 | 2018 |
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 | 45 | 2013 |
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 | 37 | 2018 |
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 |
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 |
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 | 26 | 2017 |
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 | 24 | 2018 |