Xuanzhu Liu

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Zhimiao Lin, Quan Chen, Ming-Yang Lee et al. · The American Journal of Human Genetics · 2012 · 334 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Daniele Cassatella, Sasha Howard, James S. Acierno et al. · European Journal of Endocrinology · 2018 · 131 citations · Full text

Medicine, Endocrinology, Genetics +13

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism

Aihua Wei, Dongjie Zang, Zhe Zhang et al. · Journal of Investigative Dermatology · 2013 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Marni J. Falk, Dong Li, Xiaowu Gai et al. · JIMD Reports · 2014 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17