Zongxiao He

Novel somatic and germline mutations in intracranial germ cell tumours

Linghua Wang, Shigeru Yamaguchi, Matthew D. Burstein et al. · Nature · 2014 · 220 citations · Full text

Neuro-oncology, Somatic Variant, Tumor Heterogeneity +9

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +10

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

Zongxiao He, Brian J. O’Roak, Joshua D. Smith et al. · The American Journal of Human Genetics · 2013 · 79 citations · Full text

Rare-variant Extensions, Transmission Disequilibrium Test, Syndromic Autism +8

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck et al. · The American Journal of Human Genetics · 2015 · 65 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +7

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Mohsin Shahzad, Sairah Yousaf, Yar Muhammad Waryah et al. · Scientific Reports · 2017 · 32 citations · Full text