Kristen Deak
Duke University Health System(US)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Cancer Genomics and Diagnostics, Acute Myeloid Leukemia Research, Genomic variations and chromosomal abnormalities, Myeloproliferative Neoplasms: Diagnosis and Treatment
Most-Cited Works
- → Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)(2020)152 cited
- → Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions(2006)134 cited
- → Analysis ofALDH1A2,CYP26A1,CYP26B1,CRABP1, andCRABP2 in human neural tube defects suggests a possible association with alleles inALDH1A2(2005)81 cited
- → Further evidence for a maternal genetic effect and a sex‐influenced effect contributing to risk for human neural tube defects(2008)80 cited
- → Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder(2018)73 cited
- → False Positives in Multiplex PCR-Based Next-Generation Sequencing Have Unique Signatures(2014)58 cited
- → Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses(2020)42 cited
- → Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4(2007)41 cited
- → SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects(2005)40 cited
- → Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1(2008)37 cited