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Kristen L. Deak, Ph.D. - Publications

Affiliations: 
2006 Duke University, Durham, NC 
Area:
Genetics
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12 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American Journal of Medical Genetics. Part A. PMID 37596828 DOI: 10.1002/ajmg.a.63363  0.325
2021 Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. 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. PMID 33552636 DOI: 10.1055/S-0039-1701020  0.327
2019 Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J. CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age. Human Mutation. PMID 31705726 DOI: 10.1002/Humu.23952  0.313
2018 Liu N, Schoch K, Luo X, Pena L, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak K, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, et al. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Human Molecular Genetics. PMID 29726930 DOI: 10.1093/Hmg/Ddy146  0.423
2013 Lockhart EL, Combs MR, Buck A, Horn S, Deak K. Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. Transfusion. 53: 1884. PMID 24015938 DOI: 10.1111/Trf.12094  0.322
2011 Deak KL, Horn SR, Rehder CW. 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. PMID 22118736 DOI: 10.1016/J.Cll.2011.08.008  0.32
2008 Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC. 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. PMID 18937341 DOI: 10.1002/Bdra.20511  0.58
2008 Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC. Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 71: 1764-9. PMID 18843099 DOI: 10.1212/01.Wnl.0000325060.16532.40  0.538
2007 Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 68: 578-82. PMID 17229919 DOI: 10.1212/01.Wnl.0000254991.21818.F3  0.556
2006 Boyles AL, Billups AV, Deak KL, Siegel DG, Mehltretter L, Slifer SH, Bassuk AG, Kessler JA, Reed MC, Nijhout HF, George TM, Enterline DS, Gilbert JR, Speer MC. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environmental Health Perspectives. 114: 1547-52. PMID 17035141 DOI: 10.1289/Ehp.9166  0.642
2005 Deak KL, Dickerson ME, Linney E, Enterline DS, George TM, Melvin EC, Graham FL, Siegel DG, Hammock P, Mehltretter L, Bassuk AG, Kessler JA, Gilbert JR, Speer MC. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Research. Part a, Clinical and Molecular Teratology. 73: 868-75. PMID 16237707 DOI: 10.1002/Bdra.20183  0.623
2005 Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, et al. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Human Genetics. 117: 133-42. PMID 15883837 DOI: 10.1007/S00439-005-1299-7  0.65
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