Monogenic diabetes: a gateway to precision medicine in diabetes H Zhang, K Colclough, AL Gloyn, TI Pollin The Journal of clinical investigation 131 (3), 2021 | 135 | 2021 |
BioXpress: an integrated RNA-seq-derived gene expression database for pan-cancer analysis Q Wan, H Dingerdissen, Y Fan, N Gulzar, Y Pan, TJ Wu, C Yan, H Zhang, ... Database 2015, bav019, 2015 | 106 | 2015 |
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes JK Goodrich, M Singer-Berk, R Son, A Sveden, J Wood, E England, ... Nature communications 12 (1), 3505, 2021 | 60 | 2021 |
Progress and prospects in stem cell therapy X Xu, F Yi, H Pan, S Duan, Z Ding, G Yuan, J Qu, H Zhang, G Liu Acta Pharmacologica Sinica 34 (6), 741-746, 2013 | 51 | 2013 |
Epigenetics variation and pathogenesis in diabetes H Zhang, TI Pollin Current diabetes reports 18, 1-7, 2018 | 34 | 2018 |
Monogenic diabetes in youth with presumed type 2 diabetes: results from the progress in diabetes genetics in youth (ProDiGY) collaboration JN Todd, JW Kleinberger, H Zhang, S Srinivasan, SE Tollefsen, ... Diabetes Care 44 (10), 2312-2319, 2021 | 29 | 2021 |
Human germline and pan-cancer variomes and their distinct functional profiles Y Pan, K Karagiannis, H Zhang, H Dingerdissen, A Shamsaddini, Q Wan, ... Nucleic acids research 42 (18), 11570-11588, 2014 | 27 | 2014 |
Heterozygosity for a pathogenic variant in SLC12A3 that causes autosomal recessive Gitelman syndrome is associated with lower serum potassium X Wan, J Perry, H Zhang, F Jin, KA Ryan, C Van Hout, J Reid, J Overton, ... Journal of the American Society of Nephrology 32 (3), 756-765, 2021 | 15 | 2021 |
Model for integration of monogenic diabetes diagnosis into routine care: the personalized diabetes medicine program H Zhang, JW Kleinberger, KA Maloney, Y Guan, TJ Mathias, K Bisordi, ... Diabetes care 45 (8), 1799-1806, 2022 | 8 | 2022 |
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel H Zhang, KA Maloney, F Barbetti, SAW Greeley, JLT Kettunen, ... Diabetes 69 (Supplement_1), 2020 | 8 | 2020 |
1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine BB Johansson, A Pavithram, H Zhang, KA Maloney, M Ringdal, A Kaci, ... Diabetes 69 (Supplement_1), 2020 | 2 | 2020 |
2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel TI Pollin, MA Mayers, SAW Greeley, KA Maloney, RN Naylor, RE Pakyz, ... Diabetes 69 (Supplement_1), 2020 | 1 | 2020 |
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY A Pavithram, H Zhang, KA Maloney, M Ringdal, A Kaci, JV Sagen, ... The Journal of Molecular Diagnostics 26 (6), 530-541, 2024 | | 2024 |
Partial GCK gene deletion mutations causing maturity-onset diabetes of the young R Yu, H Zhang, X Xiao Acta Diabetologica 61 (1), 107-115, 2024 | | 2024 |
A Chinese family with cat eye syndrome and abnormality of eye movement: First case report Y Lu, L Shen, Y Zheng, H Zhang, Y Liu, M Qi, S Huang, B Shen Frontiers in Pediatrics 11, 1145183, 2023 | | 2023 |
Genomic Medicine in Diabetes: Improving the Diagnostic Rate of Monogenic Diabetes H Zhang University of Maryland, Baltimore, 2021 | | 2021 |