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Results by year

Year	Number of Results
1969	1
1970	2
1972	1
1973	1
1975	12
1976	8
1977	5
1978	4
1979	6
1980	4
1981	7
1982	3
1983	5
1984	6
1985	13
1986	3
1987	13
1988	13
1989	11
1990	18
1991	9
1992	17
1993	29
1994	21
1995	24
1996	24
1997	26
1998	41
1999	48
2000	37
2001	25
2002	36
2003	40
2004	57
2005	50
2006	61
2007	70
2008	69
2009	79
2010	92
2011	95
2012	112
2013	113
2014	98
2015	88
2016	84
2017	75
2018	81
2019	81
2020	73
2021	75
2022	112
2023	79
2024	19

1,965 results

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Results by year

Page 1

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V. LaHaye S, et al. Circ Cardiovasc Genet. 2016 Aug;9(4):320-9. doi: 10.1161/CIRCGENETICS.115.001324. Epub 2016 Jul 14. Circ Cardiovasc Genet. 2016. PMID: 27418595 Free PMC article.

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

Mahadevaiah G, Gupta M, Ashwath R. Mahadevaiah G, et al. Tex Heart Inst J. 2015 Oct 1;42(5):458-61. doi: 10.14503/THIJ-14-4256. eCollection 2015 Oct. Tex Heart Inst J. 2015. PMID: 26504441 Free PMC article. Review.

Tbx5 is essential for heart development.

Horb ME, Thomsen GH. Horb ME, et al. Development. 1999 Apr;126(8):1739-51. doi: 10.1242/dev.126.8.1739. Development. 1999. PMID: 10079235

Identification of miR-20b-5p as an inhibitory regulator in cardiac differentiation via TET2 and DNA hydroxymethylation.

Li KX, Li JR, Zuo SJ, Li X, Chen XT, Xiao PY, Li HT, Sun L, Qian T, Zhang HM, Zhu D, Yu XY, Chen G, Jiang XY. Li KX, et al. Clin Epigenetics. 2024 Mar 15;16(1):42. doi: 10.1186/s13148-024-01653-7. Clin Epigenetics. 2024. PMID: 38491513 Free PMC article.

Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.

Broberg M, Ampuja M, Jones S, Ojala T, Rahkonen O, Kivelä R, Priest J; FinnGen; Palotie A, Ollila HM, Helle E. Broberg M, et al. BMC Genomics. 2024 Mar 7;25(1):256. doi: 10.1186/s12864-024-10172-x. BMC Genomics. 2024. PMID: 38454350 Free PMC article.

ING4 and ING5 are essential for histone H3 lysine 14 acetylation and epicardial cell lineage development.

Mah SYY, Vanyai HK, Li-Wai-Suen CSN, Garnham AL, Wynn J, Bergamasco MI, Malelang S, Wilcox S, Biben C, Smyth GK, Thomas T, Voss AK. Mah SYY, et al. Development. 2024 Mar 1;151(5):dev202617. doi: 10.1242/dev.202617. Epub 2024 Mar 6. Development. 2024. PMID: 38446206

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

Chung BHY, Yeow SS, Chan JCK, Lee M. Chung BHY, et al. BMJ Case Rep. 2024 Mar 4;17(3):e247864. doi: 10.1136/bcr-2021-247864. BMJ Case Rep. 2024. PMID: 38442972

A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects.

Bolunduț AC, Nazarie F, Lazea C, Șufană C, Miclea D, Lazăr C, Mihu CM. Bolunduț AC, et al. Genes (Basel). 2024 Feb 5;15(2):207. doi: 10.3390/genes15020207. Genes (Basel). 2024. PMID: 38397197 Free PMC article.

Apparently isolated ventricular septal defect, prenatal diagnosis, association with chromosomal aberrations, spontaneous closure rate in utero and during the first year of life: a systematic review.

Mladenova MK, Bakardzhiev IV, Hadji Lega M, Lingman G. Mladenova MK, et al. Folia Med (Plovdiv). 2023 Dec 31;65(6):871-878. doi: 10.3897/folmed.65.e103828. Folia Med (Plovdiv). 2023. PMID: 38351774

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.

Møller Nielsen AK, Dehn AM, Hjortdal V, Larsen LA. Møller Nielsen AK, et al. Eur J Med Genet. 2024 Apr;68:104920. doi: 10.1016/j.ejmg.2024.104920. Epub 2024 Feb 7. Eur J Med Genet. 2024. PMID: 38336121 Free article. Review.

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