Yunru Shao

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 186 citations · Full text

Distinct Neurological Syndromes, Neurodegenerative Diseases, Recurrent De Novo +10

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 159 citations · Full text

Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females

Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld et al. · Annals of Clinical and Translational Neurology · 2018 · 86 citations · Full text

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Mari Tokita, Alicia Braxton, Yunru Shao et al. · The American Journal of Human Genetics · 2016 · 65 citations · Full text

Congenital Malformations, Developmental Anomaly, Developmental Biology +9

De novo missense variants in <i>HECW2</i> are associated with neurodevelopmental delay and hypotonia

Esther R. Berko, Megan T. Cho, Christine M. Eng et al. · Journal of Medical Genetics · 2016 · 63 citations · Full text