Publications

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM, National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. HGG Advances. 2023 Oct 12; 4(4).

Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries

Woudstra O, Skoric-Milosavljevic D, Mulder B, Meijboom F,Post M, Jongbloed M, van Dijk A, van Melle J, Konings T, Postma A, Bezzina C, Bouma B, Tanck M. International Journal of Cardiology 2023 Jan; 371: 153-159

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche R, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Chan Seng Yue M, Sung W, Thiruvahindrapuram B, Lougheed Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao V, Shenthar J, Dhandapany P, Semsarian C, Weintraub R, Richard D. Bagnall, Ingles J, Genomics England Research Consortium, Melé M, Maass P, Ellis J, Scherer S, Mital S. npj Genomic Medicine. 2022 Mar 14; 7 (18)

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Skoric-Milosavljevic D, Tadros R, Bosada F, Tessadori F, Weerd JV, Woudstra O,Tjong F, Lahrouchi N, Bajolle F, Cordell H, Agopian A.J., Blue G, Barge-Schaapveld D, Preuss C, Lodder E, Beekman L, Bokenkamp R, Müller-Nurasyid M, Vliegen H , Konings T, Melle JV, Dijk AV, Kimmenade RV, Roos-Hesselink J, Sieswerda G, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter H, Al-Chalabi A, Shaw C, Shaw P, Morrison K, Veldink J, van den Berg L, Radivojkov-Blagojevic M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe J, Altamirano-Diaz L, Lougheed J, Bouma B, Chaix M, Kline J, Bassett A, Andelfinger G, van der Palen R, Bouvagnet P, Clur SA, Breckpot J, Kerstjens-Frederikse W, Winlaw D, Bauer U, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder B, Tanck M, Bakkers J, Christoffels V, Postma A, Gewillig M, Bezzina C. Circulation Research 2022 Jan 21;130(2):166-180

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects, Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Genetics in Medicine. 2021 Oct;23(10):1952-1960