McBride KL - Search Results

1

Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.

Melas M, Beltsios ET, Adamou A, Koumarelas K, McBride KL. Melas M, et al. Among authors: mcbride kl. J Clin Med. 2022 Dec 28;12(1):225. doi: 10.3390/jcm12010225. J Clin Med. 2022. PMID: 36615026 Free PMC article. Review.

2

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Melas M, et al. Among authors: mcbride kl. Hum Mutat. 2022 Feb;43(2):189-199. doi: 10.1002/humu.24304. Epub 2021 Dec 16. Hum Mutat. 2022. PMID: 34859533

3

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Manivannan SN, et al. Among authors: mcbride kl. PLoS Genet. 2020 May 26;16(5):e1008639. doi: 10.1371/journal.pgen.1008639. eCollection 2020 May. PLoS Genet. 2020. PMID: 32453731 Free PMC article.

4

Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs).

Lin H, McBride KL, Garg V, Zhao MT. Lin H, et al. Among authors: mcbride kl. Front Cell Dev Biol. 2021 Jan 21;9:630069. doi: 10.3389/fcell.2021.630069. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33585486 Free PMC article. Review.

5

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes.

Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. Matos-Nieves A, et al. Among authors: mcbride kl. Front Cardiovasc Med. 2021 Aug 24;8:683074. doi: 10.3389/fcvm.2021.683074. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34504875 Free PMC article.

6

Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.

Fitzgerald-Butt SM, Byrne L, Gerhardt CA, Vannatta K, Hoffman TM, McBride KL. Fitzgerald-Butt SM, et al. Among authors: mcbride kl. Pediatr Cardiol. 2010 Feb;31(2):195-202. doi: 10.1007/s00246-009-9583-2. Epub 2009 Dec 1. Pediatr Cardiol. 2010. PMID: 19949785

7

Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.

Huang W, Liang J, Yuan CC, Kazmierczak K, Zhou Z, Morales A, McBride KL, Fitzgerald-Butt SM, Hershberger RE, Szczesna-Cordary D. Huang W, et al. Among authors: mcbride kl. FEBS J. 2015 Jun;282(12):2379-93. doi: 10.1111/febs.13286. Epub 2015 Apr 16. FEBS J. 2015. PMID: 25825243 Free PMC article.

8

Measuring genetic knowledge: a brief survey instrument for adolescents and adults.

Fitzgerald-Butt SM, Bodine A, Fry KM, Ash J, Zaidi AN, Garg V, Gerhardt CA, McBride KL. Fitzgerald-Butt SM, et al. Among authors: mcbride kl. Clin Genet. 2016 Feb;89(2):235-43. doi: 10.1111/cge.12618. Epub 2015 Jun 29. Clin Genet. 2016. PMID: 26032340 Free PMC article.

9

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Hershberger RE, et al. Among authors: mcbride kl. J Card Fail. 2018 May;24(5):281-302. doi: 10.1016/j.cardfail.2018.03.004. Epub 2018 Mar 19. J Card Fail. 2018. PMID: 29567486 Free PMC article. Review.

10

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM; ACMG Professional Practice and Guidelines Committee. Hershberger RE, et al. Among authors: mcbride kl. Genet Med. 2018 Sep;20(9):899-909. doi: 10.1038/s41436-018-0039-z. Epub 2018 Jun 14. Genet Med. 2018. PMID: 29904160 Free article.

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