Kristen Deak

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Daniela del Gaudio, Marwan Shinawi, Caroline Astbury et al. · Genetics in Medicine · 2020 · 151 citations · Full text

Uniparental Disomy, Genetic Testing, Genetic Disorder +9

Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions

Abee L. Boyles, Ashley V. Billups, Kristen Deak et al. · Environmental Health Perspectives · 2006 · 134 citations · Full text

Analysis ofALDH1A2,CYP26A1,CYP26B1,CRABP1, andCRABP2 in human neural tube defects suggests a possible association with alleles inALDH1A2

Kristen Deak, Margaret E. Dickerson, Elwood Linney et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2005 · 81 citations · Full text

Further evidence for a maternal genetic effect and a sex‐influenced effect contributing to risk for human neural tube defects

Kristen Deak, Deborah G. Siegel, Timothy M. George et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2008 · 80 citations · Full text

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Ning Liu, Kelly Schoch, Xi Luo et al. · Human Molecular Genetics · 2018 · 73 citations · Full text

Family Members, Malformation Syndromes, Genetics +16