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Novel somatic and germline mutations in intracranial germ cell tumours L Wang, S Yamaguchi, MD Burstein, K Terashima, K Chang, HK Ng, ... Nature 511 (7508), 241-245, 2014 | 214 | 2014 |
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 138 | 2015 |
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ... The American Journal of Human Genetics 99 (6), 1229-1244, 2016 | 87 | 2016 |
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data Z He, BJ O’Roak, JD Smith, G Wang, S Hooker, RLP Santos-Cortez, B Li, ... The American Journal of Human Genetics 94 (1), 33-46, 2014 | 83 | 2014 |
Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3 JX Chong, LC Burrage, AE Beck, CT Marvin, MJ McMillin, KM Shively, ... The American Journal of Human Genetics 96 (5), 841-849, 2015 | 68 | 2015 |
The rare-variant generalized disequilibrium test for association analysis of nuclear and extended pedigrees with application to alzheimer disease WGS data Z He, D Zhang, AE Renton, B Li, L Zhao, GT Wang, AM Goate, R Mayeux, ... The American Journal of Human Genetics 100 (2), 193-204, 2017 | 33 | 2017 |
mirAct: a web tool for evaluating microRNA activity based on gene expression data Z Liang, H Zhou, Z He, H Zheng, J Wu Nucleic acids research 39 (suppl_2), W139-W144, 2011 | 30 | 2011 |
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population M Shahzad, S Yousaf, YM Waryah, H Gul, T Kausar, N Tariq, U Mahmood, ... Scientific reports 7 (1), 44185, 2017 | 29 | 2017 |
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability M Ansar, A Jan, RLP Santos-Cortez, X Wang, M Suliman, A Acharya, ... European Journal of Human Genetics 24 (8), 1223-1227, 2016 | 20 | 2016 |
A rare variant nonparametric linkage method for nuclear and extended pedigrees with application to late-onset Alzheimer disease via WGS data L Zhao, Z He, D Zhang, GT Wang, AE Renton, BN Vardarajan, ... The American Journal of Human Genetics 105 (4), 822-835, 2019 | 18 | 2019 |
SEQSpark: a complete analysis tool for large-scale rare variant association studies using whole-genome and exome sequence data D Zhang, L Zhao, B Li, Z He, GT Wang, DJ Liu, SM Leal The American Journal of Human Genetics 101 (1), 115-122, 2017 | 14 | 2017 |
MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data Z He, L Wang, AT DeWan, SM Leal Bioinformatics 35 (3), 529-531, 2019 | | 2019 |