ACHD genetics

Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
 

Homsy J1Zaidi S2Shen Y3Ware JS4Samocha KE5Karczewski KJ5DePalma SR6McKean D7Wakimoto H7Gorham J7Jin SC2Deanfield J8Giardini A8Porter GA Jr9Kim R10Bilguvar K11López-Giráldez F12Tikhonova I12Mane S12Romano-Adesman A13Qi H14Vardarajan B15Ma L16Daly M5,

Comment by Benjamin Landis

Abstract

Elife. 2015 Oct 27;4. pii: e08648. doi: 10.7554/eLife.08648.

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.
 

Doyle JJ1,2Doyle AJ1,3Wilson NK1Habashi JP1,4Bedja D5,6Whitworth RE7Lindsay ME8Schoenhoff F9,10Myers L1Huso N1Bachir S1Squires O1,Rusholme B1Ehsan H2Huso D11Thomas CJ12Caulfield MJ3Van Eyk JE10Judge DP13Dietz HC1,4,13GenTAC Registry ConsortiumMIBAVA Leducq Consortium.

Comment by Benjamin Landis

 

Abstract

Am J Med Genet A. 2015 Aug;167(8):1822-9. doi: 10.1002/ajmg.a.37108. Epub 2015 Apr 30.

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Jia Y1Louw JJ1,2Breckpot J1,3Callewaert B4Barrea C5Sznajer Y6Gewillig M2Souche E1Dehaspe L1Vermeesch JR1Lambrechts D7,8Devriendt K1,Corveleyn A1.

Comment by Benjamin Landis

Abstract

Am J Med Genet A. 2015 Jun 27. doi: 10.1002/ajmg.a.37208. [Epub ahead of print].

Aortic dimensions in Turner syndrome.

Quezada E1Lapidus J2Shaughnessy R1Chen Z2Silberbach M1.

Comment by Benjamin Landis

Abstract

Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2Deletion Syndrome.

Mlynarski EE1Sheridan MB1Xie M2Guo T3Racedo SE3McDonald-McGinn DM4Gai X5Chow EW6Vorstman J7Swillen A8Devriendt K8Breckpot J8,Digilio MC9Marino B10Dallapiccola B9Philip N11Simon TJ12Roberts AE13Piotrowicz M14Bearden CE15Eliez S16Gothelf D17Coleman K18Kates WR19Devoto M20Zackai E4Heine-Suñer D21Shaikh TH22Bassett AS6Goldmuntz E23Morrow BE3Emanuel BS24International Chromosome 22q11.2Consortium.

Comment by Benjamin Landis

Abstract

J Hypertens. 2015 Apr;33(4):804-9. doi: 10.1097/HJH.0000000000000454.

Increased nocturnal heart rate and wave reflection are early markers of  cardiovascular disease in Williams-Beurensyndrome children.

Maloberti A1Cesana FHametner BDozio DVilla PHulpke-Wette MSchwarz ASelicorni AWassertheurer SMancia GGiannattasio C.

Comment by Benjamin Landis

Abstract

Circ Cardiovasc Genet. 2015 Jan 22. pii: CIRCGENETICS.114.000950. [Epub ahead of print]

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.

Franken R1, den Hartog A1, Radonic T2, Micha D3, Maugeri A3, van Dijk FS3, Meijers-Heijboer HE3, Timmermans J4, Scholte AJ5, van den Berg MP6, Groenink M7, Mulder BJ1, Zwinderman AH8, de Waard V9, Pals G10.

Comment by Benjamin Landis

Abstract

Circ Cardiovasc Genet. 2015 Feb;8(1):74-81. doi: 10.1161/CIRCGENETICS.114.000819. Epub 2015 Jan 5.

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of fallot.

Mercer-Rosa L1, Paridon SM1, Fogel MA1, Rychik J1, Tanel RE1, Zhao H1, Zhang X1, Yang W1, Shults J1, Goldmuntz E2.

Comment by Benjamin Landis

Abstract