Weiyi Mu

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts

Max Werth, Kai M. Schmidt‐Ott, Thomas Leete et al. · eLife · 2017 · 124 citations · Full text

Life Sciences, Developmental Biology, Genetics +13

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

Weiyi Mu, Michael Muriello, Julia Clemens et al. · American Journal of Medical Genetics Part A · 2019 · 70 citations · Full text

Public Health, Child Health, Pediatrics +16