Christopher Frazar

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 104 citations · Full text

Life Sciences, Genetics, Neuroscience +16

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

Life Sciences, Genetics, Molecular Genetics +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 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis

Zeinab Al‐Rekabi, Marsha M. Wheeler, Andrea Leonard et al. · Journal of Cell Science · 2015 · 24 citations

Medicine, Craniofacial Biology, Developmental Biology +17