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| Biotin-responsive basal ganglia disease maps to 2q36. 3 and is due to mutations in SLC19A3 WQ Zeng, E Al-Yamani, JS Acierno, S Slaugenhaupt, T Gillis, ... The American Journal of Human Genetics 77 (1), 16-26, 2005 | 220 | 2005 |
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| ELP2 is a novel gene implicated in neurodevelopmental disabilities JS Cohen, S Srivastava, KD Farwell, HM Lu, W Zeng, H Lu, EC Chao, ... American journal of medical genetics Part A 167 (6), 1391-1395, 2015 | 79 | 2015 |
| Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis RJ Butterfield, TJ Stevenson, L Xing, TM Newcomb, B Nelson, W Zeng, ... Neurology 82 (15), 1322-1330, 2014 | 61 | 2014 |
| New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome) L Tuzovic, S Tang, RS Miller, L Rohena, L Shahmirzadi, K Gonzalez, X Li, ... Fetal diagnosis and therapy 38 (4), 296-306, 2015 | 58 | 2015 |
| A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice L Tuzovic, L Yu, W Zeng, X Li, H Lu, HM Lu, KDF Gonzalez, WK Chung Rare diseases 1 (1), e26144, 2013 | 50 | 2013 |
| Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic … SK Gandomi, KD Farwell Gonzalez, M Parra, L Shahmirzadi, J Mancuso, ... Journal of genetic counseling 23 (3), 289-298, 2014 | 49 | 2014 |
| Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations L Basel-Vanagaite, R Yilmaz, S Tang, MS Reuter, N Rahner, DK Grange, ... Human genetics 133, 939-949, 2014 | 40 | 2014 |
| Genetic analysis of the GRIK2modifier effect in Huntington's disease W Zeng, T Gillis, M Hakky, L Djoussé, RH Myers, ME MacDonald, ... BMC neuroscience 7, 1-9, 2006 | 30 | 2006 |
| Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1 WQ Zeng, H Gao, L Brueton, T Hutchin, G Gray, A Chakrapani, S Olpin, ... American Journal of Medical Genetics Part A 140 (9), 1004-1009, 2006 | 29 | 2006 |
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| Diagnostic exome sequencing and tailored bioinformatics of the parents of a deceased child with cobalamin deficiency suggests digenic inheritance of the MTR and LMBRD1 genes KD Farwell Gonzalez, X Li, HM Lu, H Lu, JE Pellegrino, RT Miller, W Zeng, ... JIMD Reports, Volume 15, 29-37, 2015 | 16 | 2015 |
| G3viz: an R package to interactively visualize genetic mutation data using a lollipop-diagram X Guo, B Zhang, W Zeng, S Zhao, D Ge Bioinformatics 36 (3), 928-929, 2020 | 13 | 2020 |
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Hong LuPathway GenomicsVerified email at pathway.com
