Zachary A Kupchinsky
Duke University(US)
Publications by Year
Research Areas
Congenital Ear and Nasal Anomalies, Aquaculture Nutrition and Growth, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Craniofacial Disorders and Treatments, Marine and fisheries research
Most-Cited Works
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → Temperature-activated ion channels in neural crest cells confer maternal fever–associated birth defects(2017)72 cited
- → Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration(2018)52 cited
- → TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci(2020)21 cited
- → Evaluation of Heterotrophic Algae Meal as a Diet Ingredient for Channel Catfish, Ictalurus punctatus(2015)12 cited
- → Production Characteristics of All‐male and Mixed‐sex Giant River Prawns, Macrobrachium rosenbergii, Grown in Earthen Ponds in Kentucky and Mississippi USA(2015)11 cited
- → Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus(2019)5 cited
- → Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)3 cited
- → SAT-LB071 Loss of Function (LoF) mutations in TCF12 Cause Autosomal Dominant Kallmann Syndrome and Reveal Network-level Interactions Between Causal Loci(2019)