Deborah A. McDermott, MS, CGC– List of Publications

Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, Engler MB, Goldmuntz E, Herrington DM, Hershberger RE, Hong Y, Johnson JA, Kittner SJ, McDermott DA, Meschia JF, Mestroni L, O'Donnell CJ, Psaty BM, Vasan RS, Ruel M, Shen WK, Terzic A, Waldman SA; American Heart Association Council on Functional Genomics and Translational Biology; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Basic Cardiovascular Sciences; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular and Stroke Nursing; American Heart Association Stroke Council. Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation. 2013 Dec 24;128(25):2813-51. PMID: 24297835

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Kim C, Milewicz DM. Am J Hum Genet. 2013 Aug 8;93(2):398-404.  PMID: 23910461

Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA; GenTAC Investigators.Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014 Jan;16(1):53-9. PMID: 23743550

Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. PMID: 21698135

McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. 2004 Jul 20 [updated 2015 Oct 8]. PMID: 20301290

Eagle KA; GenTAC Consortium.

Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Am Heart J. 2009 Feb;157(2):319-26. doi: 10.1016/j.ahj.2008.10.005. Epub 2008 Dec 17. PMID: 19185640

McDermott DA, Hatcher CJ, Basson CT. Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome. Circ Res. 2008 Sep 26;103(7):e96. PMID: 18818409

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008 Jul;10(7):469-94.Review. PMID: 18580689

Arnett DK, Baird AE, Barkley RA, Basson CT, Boerwinkle E, Ganesh SK, Herrington DM, Hong Y, Jaquish C, McDermott DA, O'Donnell CJ; American Heart Association Council on Epidemiology and Prevention; American Heart Association Stroke Council; Functional Genomics and Translational Biology Interdisciplinary Working Group. Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Genomics and Translational Biology Interdisciplinary Working Group. Circulation. 2007 Jun 5;115(22):2878-901. Epub 2007 May 21. PMID: 17515457

McDermott DA, Basson CT, Hatcher CJ Genetics of cardiac septation defects and their pre-implantation diagnosis. Methods Mol Med. 2006;126:19-42. PMID: 16930004

Burton KA, McDermott DA, Wilkes D, Poulsen MN, Nolan MA, Goldstein M, Basson CT, McKnight GS. Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men. Mol Endocrinol. 2006 Oct;20(10):2504-13.  PMID: 16728532

Hatcher CJ, McDermott DA. Using the TBX5 transcription factor to grow and sculpt the heart. Am J Med Genet A. 2006 Jul 1;140(13):1414-8. Review. PMID: 16691575

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. Pediatr Res. 2005 Nov;58(5):981-6. PMID: 16183809

Bennett KR, Heath BJ, Creswell LL, Veugelers MA, McDermott DA, Barksdale S, Goldstein M, Basson CT. The carney complex: unusual skin findings and recurrent cardiac myxoma. Arch Dermatol. 2005 Jul;141(7):916-8. No abstract available. PMID: 16027322

Wilkes D, McDermott DA, Basson CT.

Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol. 2005 Jul;6(7):501-8. Review. PMID: 15992699

McDermott DA, He J, Song YS, Kligman I, Basson CT.

Update: PGD and Holt-Oram syndrome. Am J Med Genet A. 2005 Jul 15;136(2):223. No abstract available. PMID: 15940699

Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L.

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004 Nov;36(11):1162-4. Jan;37(1):106. PMID: 15489853

Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7.  PMID: 15371594

Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med. 2004 Jul 29;351(5):460-9. PMID: 15282353

He J, McDermott DA, Song Y, Gilbert F, Kligman I, Basson CT.

Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome. Am J Med Genet A. 2004 Apr 1;126A(1):93-8. PMID: 15039979

Hatcher CJ, Diman NY, McDermott DA, Basson CT.Transcription

factor cascades in congenital heart malformation. Trends Mol Med. 2003 Dec;9(12):512-5. Review. PMID: 14659463

Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome. Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT. J Cardiovasc Electrophysiol. 2003 Mar;14(3):263-8. PMID: 12716108

Offit K, Gilad S, Paglin S, Kolachana P, Roisman LC, Nafa K, Yeugelewitz V, Gonzales M, Robson M, McDermott D, Pierce HH, Kauff ND, Einat P, Jhanwar S, Satagopan JM, Oddoux C, Ellis N, Skaliter R, Yahalom J. Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers. Clin Cancer Res. 2002 Dec;8(12):3813-9. PMID: 12473594