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519 results

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Page 1
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP. Kramer RJ, et al. Among authors: rosenfeld ja. Circ Genom Precis Med. 2023 Aug;16(4):390-400. doi: 10.1161/CIRCGEN.122.003912. Epub 2023 Jul 3. Circ Genom Precis Med. 2023. PMID: 37395136
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. Dittwald P, et al. Among authors: rosenfeld ja. Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8. Genome Res. 2013. PMID: 23657883 Free PMC article.
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR. Szafranski P, et al. Among authors: rosenfeld ja. Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14. Eur J Hum Genet. 2015. PMID: 24824130 Free PMC article.
Duplication of HEY2 in cardiac and neurologic development.
Jordan VK, Rosenfeld JA, Lalani SR, Scott DA. Jordan VK, et al. Among authors: rosenfeld ja. Am J Med Genet A. 2015 Sep;167A(9):2145-9. doi: 10.1002/ajmg.a.37086. Epub 2015 Apr 1. Am J Med Genet A. 2015. PMID: 25832314 Free PMC article.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. Fregeau B, et al. Among authors: rosenfeld ja. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087320 Free PMC article.
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Scott DA, et al. Among authors: rosenfeld ja. J Med Genet. 2017 Jan;54(1):47-53. doi: 10.1136/jmedgenet-2016-104039. Epub 2016 Aug 22. J Med Genet. 2017. PMID: 27550220
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: rosenfeld ja. Circ Arrhythm Electrophysiol. 2017 Apr;10(4):e004742. doi: 10.1161/CIRCEP.116.004742. Circ Arrhythm Electrophysiol. 2017. PMID: 28404607 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: rosenfeld ja. 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.
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: rosenfeld ja. 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.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Among authors: rosenfeld ja. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.
519 results