Noelle R. Danylchuk

<i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

Kyle Metz, Xinchen Teng, Isabelle Coppens et al. · Annals of Neurology · 2018 · 57 citations · Full text

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Hallie Steinfeld, Megan T. Cho, Kyle Retterer et al. · Neurogenetics · 2016 · 50 citations · Full text

Intellectual Impairment, Developmental Biology, Genetic Disorder +8

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Christina Lam, Gretchen Golas, Mariska Davids et al. · Molecular Genetics and Metabolism · 2015 · 47 citations · Full text

Signal Transduction, Autoimmune Disease, Immunodeficiencies +9

Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans

Dominika Bajguz, Noelle R. Danylchuk, Megan Czarniecki et al. · Journal of Genetic Counseling · 2021 · 15 citations

Genetic Testing, Genetic Epidemiology, Gynecology +16

Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use

Jordan A. Hills, Yuri A. Zárate, Noelle R. Danylchuk et al. · American Journal of Medical Genetics Part A · 2017 · 12 citations