1107 related articles for article (PubMed ID: 28991257)
1. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC; Homsy J; Zaidi S; Lu Q; Morton S; DePalma SR; Zeng X; Qi H; Chang W; Sierant MC; Hung WC; Haider S; Zhang J; Knight J; Bjornson RD; Castaldi C; Tikhonoa IR; Bilguvar K; Mane SM; Sanders SJ; Mital S; Russell MW; Gaynor JW; Deanfield J; Giardini A; Porter GA; Srivastava D; Lo CW; Shen Y; Watkins WS; Yandell M; Yost HJ; Tristani-Firouzi M; Newburger JW; Roberts AE; Kim R; Zhao H; Kaltman JR; Goldmuntz E; Chung WK; Seidman JG; Gelb BD; Seidman CE; Lifton RP; Brueckner M
Nat Genet; 2017 Nov; 49(11):1593-1601. PubMed ID: 28991257
[TBL] [Abstract][Full Text] [Related]
2. 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
Circ Cardiovasc Genet; 2016 Aug; 9(4):320-9. PubMed ID: 27418595
[TBL] [Abstract][Full Text] [Related]
3. Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5.
Gao X; Zheng P; Yang L; Luo H; Zhang C; Qiu Y; Huang G; Sheng W; Ma X; Lu C
Clin Sci (Lond); 2019 Jun; 133(12):1281-1295. PubMed ID: 31171573
[TBL] [Abstract][Full Text] [Related]
4. Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.
Razmara E; Garshasbi M
BMC Cardiovasc Disord; 2018 Jul; 18(1):137. PubMed ID: 29969989
[TBL] [Abstract][Full Text] [Related]
5. Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Theis JL; Hu JJ; Sundsbak RS; Evans JM; Bamlet WR; Qureshi MY; O'Leary PW; Olson TM
Circ Genom Precis Med; 2021 Feb; 14(1):e003126. PubMed ID: 33325730
[TBL] [Abstract][Full Text] [Related]
6. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
Granados-Riveron JT; Ghosh TK; Pope M; Bu'Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour JA; David Brook J
Hum Mol Genet; 2010 Oct; 19(20):4007-16. PubMed ID: 20656787
[TBL] [Abstract][Full Text] [Related]
7. Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.
Theis JL; Zimmermann MT; Evans JM; Eckloff BW; Wieben ED; Qureshi MY; O'Leary PW; Olson TM
Circ Cardiovasc Genet; 2015 Aug; 8(4):564-71. PubMed ID: 26085007
[TBL] [Abstract][Full Text] [Related]
8. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS; Hernandez EJ; Wesolowski S; Bisgrove BW; Sunderland RT; Lin E; Lemmon G; Demarest BL; Miller TA; Bernstein D; Brueckner M; Chung WK; Gelb BD; Goldmuntz E; Newburger JW; Seidman CE; Shen Y; Yost HJ; Yandell M; Tristani-Firouzi M
Nat Commun; 2019 Oct; 10(1):4722. PubMed ID: 31624253
[TBL] [Abstract][Full Text] [Related]
9. Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.
Granados-Riveron JT; Pope M; Bu'lock FA; Thornborough C; Eason J; Setchfield K; Ketley A; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Brook JD
Congenit Heart Dis; 2012; 7(2):151-9. PubMed ID: 22011241
[TBL] [Abstract][Full Text] [Related]
10. Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
Ekure EN; Adeyemo A; Liu H; Sokunbi O; Kalu N; Martinez AF; Owosela B; Tekendo-Ngongang C; Addissie YA; Olusegun-Joseph A; Ikebudu D; Berger SI; Muenke M; Han Z; Kruszka P
Circ Genom Precis Med; 2021 Feb; 14(1):e003108. PubMed ID: 33448881
[TBL] [Abstract][Full Text] [Related]
11. De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C; Zhang P; Tristani-Firouzi M; Gelb BD; Itan Y
Genome Med; 2020 Jan; 12(1):9. PubMed ID: 31941532
[TBL] [Abstract][Full Text] [Related]
12. Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG; Waldmuller S; Müller M; Scheffold T; Fournier D; Andrade-Navarro MA; De Geeter B; Guillaumont S; Dauphin C; Yousseff D; Schmitt KR; Perrot A; Berger F; Hetzer R; Bouvagnet P; Özcelik C
PLoS One; 2011; 6(12):e28872. PubMed ID: 22194935
[TBL] [Abstract][Full Text] [Related]
13. Impact of MYH6 variants in hypoplastic left heart syndrome.
Tomita-Mitchell A; Stamm KD; Mahnke DK; Kim MS; Hidestrand PM; Liang HL; Goetsch MA; Hidestrand M; Simpson P; Pelech AN; Tweddell JS; Benson DW; Lough JW; Mitchell ME
Physiol Genomics; 2016 Dec; 48(12):912-921. PubMed ID: 27789736
[TBL] [Abstract][Full Text] [Related]
14. A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Marek-Yagel D; Bolkier Y; Barel O; Vardi A; Mishali D; Katz U; Salem Y; Abudi S; Nayshool O; Kol N; Raas-Rothschild A; Rechavi G; Anikster Y; Pode-Shakked B
Am J Med Genet A; 2020 May; 182(5):987-993. PubMed ID: 32144877
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report.
Najib B; Quibel T; Tessier A; Mortreux J; Bouvagnet P; Cohen C; Vialard F; Dard R
BMC Cardiovasc Disord; 2023 Mar; 23(1):116. PubMed ID: 36890431
[TBL] [Abstract][Full Text] [Related]
16. MYH7 variants cause complex congenital heart disease.
Ritter A; Leonard J; Gray C; Izumi K; Levinson K; Nair DR; O'Connor M; Rossano J; Shankar V; Chowns J; Marzolf A; Owens A; Ahrens-Nicklas RC
Am J Med Genet A; 2022 Sep; 188(9):2772-2776. PubMed ID: 35491958
[TBL] [Abstract][Full Text] [Related]
17. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ; Miossec MJ; Williams SG; Monaghan RM; Fotiou E; Cordell HJ; Sutcliffe L; Topf A; Bourgey M; Bourque G; Eveleigh R; Dunwoodie SL; Winlaw DS; Bhattacharya S; Breckpot J; Devriendt K; Gewillig M; Brook JD; Setchfield KJ; Bu'Lock FA; O'Sullivan J; Stuart G; Bezzina CR; Mulder BJM; Postma AV; Bentham JR; Baron M; Bhaskar SS; Black GC; Newman WG; Hentges KE; Lathrop GM; Santibanez-Koref M; Keavney BD
Circ Res; 2019 Feb; 124(4):553-563. PubMed ID: 30582441
[TBL] [Abstract][Full Text] [Related]
18. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner JT; Bick AG; Ito K; Homsy J; Rodriguez-Murillo L; Fromer M; Mazaika E; Vardarajan B; Italia M; Leipzig J; DePalma SR; Golhar R; Sanders SJ; Yamrom B; Ronemus M; Iossifov I; Willsey AJ; State MW; Kaltman JR; White PS; Shen Y; Warburton D; Brueckner M; Seidman C; Goldmuntz E; Gelb BD; Lifton R; Seidman J; Hakonarson H; Chung WK
Circ Res; 2014 Oct; 115(10):884-896. PubMed ID: 25205790
[TBL] [Abstract][Full Text] [Related]
19. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JW; Hilton DC; White SM; Sholler GF; Harvey RP; Winlaw DS
J Am Coll Cardiol; 2014 Dec; 64(23):2498-506. PubMed ID: 25500235
[TBL] [Abstract][Full Text] [Related]
20. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A; Hitz MP; Wilsdon A; Breckpot J; Turki SH; Thienpont B; McRae J; Fitzgerald TW; Singh T; Swaminathan GJ; Prigmore E; Rajan D; Abdul-Khaliq H; Banka S; Bauer UM; Bentham J; Berger F; Bhattacharya S; Bu'Lock F; Canham N; Colgiu IG; Cosgrove C; Cox H; Daehnert I; Daly A; Danesh J; Fryer A; Gewillig M; Hobson E; Hoff K; Homfray T; ; Kahlert AK; Ketley A; Kramer HH; Lachlan K; Lampe AK; Louw JJ; Manickara AK; Manase D; McCarthy KP; Metcalfe K; Moore C; Newbury-Ecob R; Omer SO; Ouwehand WH; Park SM; Parker MJ; Pickardt T; Pollard MO; Robert L; Roberts DJ; Sambrook J; Setchfield K; Stiller B; Thornborough C; Toka O; Watkins H; Williams D; Wright M; Mital S; Daubeney PE; Keavney B; Goodship J; ; Abu-Sulaiman RM; Klaassen S; Wright CF; Firth HV; Barrett JC; Devriendt K; FitzPatrick DR; Brook JD; ; Hurles ME
Nat Genet; 2016 Sep; 48(9):1060-5. PubMed ID: 27479907
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
