Zachary A Kupchinsky

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Temperature-activated ion channels in neural crest cells confer maternal fever–associated birth defects

Mary Redmond Hutson, Anna L. Keyte, Miriam Hernández‐Morales et al. · Science Signaling · 2017 · 72 citations · Full text

Molecular Neuroscience, Developmental Biology, Signal Transduction +14

Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky et al. · Neurology · 2018 · 52 citations · Full text

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

Erica E. Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky et al. · Human Molecular Genetics · 2020 · 20 citations · Full text

Evaluation of Heterotrophic Algae Meal as a Diet Ingredient for Channel Catfish, <i>Ictalurus punctatus</i>

Zachary A Kupchinsky, Shawn D. Coyle, Leigh Anne Bright et al. · Journal of the World Aquaculture Society · 2015 · 12 citations

Nutrition, Engineering, Aquaculture System +17