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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: mcbride kl. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.
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.
Correction: 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. 2019 Oct;21(10):2406-2409. doi: 10.1038/s41436-019-0521-2. Genet Med. 2019. PMID: 31040388 Free article.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Landis BJ, Helvaty LR, Geddes GC, Lin JI, Yatsenko SA, Lo CW, Border WL, Wechsler SB, Murali CN, Azamian MS, Lalani SR, Hinton RB, Garg V, McBride KL, Hodge JC, Ware SM. Landis BJ, et al. Among authors: mcbride kl. J Am Heart Assoc. 2023 Sep 19;12(18):e029340. doi: 10.1161/JAHA.123.029340. Epub 2023 Sep 8. J Am Heart Assoc. 2023. PMID: 37681527 Free PMC article.
131 results