Kristen L. Deak, Ph.D.
Affiliations: | 2006 | Duke University, Durham, NC |
Area:
GeneticsGoogle:
"Kristen Deak"Parents
Sign in to add mentor| Marcy C. Speer | grad student | 2006 | Duke | |
| (Unraveling the complex etiology of a simple Mendelian disease.) | ||||
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Publications
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| Beaman MM, Guidugli L, Hammer M, et al. (2023) Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American Journal of Medical Genetics. Part A |
| Williams JL, McDonald MT, Seifert BA, et al. (2021) An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. Journal of Pediatric Genetics. 10: 35-38 |
| Mizumoto S, Janecke AR, Sadeghpour A, et al. (2019) CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age. Human Mutation |
| Liu N, Schoch K, Luo X, et al. (2018) Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Human Molecular Genetics |
| Lockhart EL, Combs MR, Buck A, et al. (2013) Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. Transfusion. 53: 1884 |
| Deak KL, Horn SR, Rehder CW. (2011) The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clinics in Laboratory Medicine. 31: 543-64, viii |
| Deak KL, Siegel DG, George TM, et al. (2008) Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Research. Part a, Clinical and Molecular Teratology. 82: 662-9 |
| Stamm DS, Powell CM, Stajich JM, et al. (2008) Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 71: 1764-9 |
| Deak KL, Lemmers RJ, Stajich JM, et al. (2007) Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 68: 578-82 |
| Boyles AL, Billups AV, Deak KL, et al. (2006) Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environmental Health Perspectives. 114: 1547-52 |