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181 results

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. Hanchard NA, et al. Among authors: penny dj. Hum Mol Genet. 2016 Jun 1;25(11):2331-2341. doi: 10.1093/hmg/ddw071. Epub 2016 Mar 9. Hum Mol Genet. 2016. PMID: 26965164 Free PMC article.
Genetic architecture of laterality defects revealed by whole exome sequencing.
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Li AH, et al. Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622330 Free PMC article.
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW. Li AH, et al. Among authors: penny dj. Genome Med. 2017 Oct 31;9(1):95. doi: 10.1186/s13073-017-0482-5. Genome Med. 2017. PMID: 29089047 Free PMC article.
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Lalani SR, et al. Among authors: penny dj. Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929023 Free PMC article.
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP. Headrick AT, et al. Among authors: penny dj. Mol Genet Genomic Med. 2019 Jun;7(6):e593. doi: 10.1002/mgg3.593. Epub 2019 Apr 15. Mol Genet Genomic Med. 2019. PMID: 30985088 Free PMC article.
Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
Landstrom AP, Fernandez E, Rosenfeld JA, Yang Y, Dailey-Schwartz AL, Miyake CY, Allen HD, Penny DJ, Kim JJ. Landstrom AP, et al. Among authors: penny dj. Heart Rhythm. 2018 Jul;15(7):1042-1050. doi: 10.1016/j.hrthm.2018.02.031. Epub 2018 Mar 2. Heart Rhythm. 2018. PMID: 29501670 Free PMC article.
Functional classification of heart failure before and after implementing a healthcare transition program for youth and young adults transferring from a pediatric to an adult congenital heart disease clinics.
Hergenroeder AC, Moodie DS, Penny DJ, Wiemann CM, Sanchez-Fournier B, Moore LK, Head J. Hergenroeder AC, et al. Among authors: penny dj. Congenit Heart Dis. 2018 Jul;13(4):548-553. doi: 10.1111/chd.12604. Epub 2018 Mar 15. Congenit Heart Dis. 2018. PMID: 29542247
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ. Landstrom AP, et al. Among authors: penny dj. Circ Arrhythm Electrophysiol. 2017 Apr;10(4):e004742. doi: 10.1161/CIRCEP.116.004742. Circ Arrhythm Electrophysiol. 2017. PMID: 28404607 Free PMC article.
181 results