heart defects, congenital

Outcomes and experiences of genetic testing in children with congenital heart disease
Ansley M Morrish, Bridget R O’Malley, Desiree C K Hilton, Annabel E Webb, Bruce Bennetts, Gary F Sholler, Janine Smith, Gillian M Blue

Journal of Medical Genetics May 2025, 62 (5) 335-344; DOI: 10.1136/jmg-2024-110553
Six at Sixty. ‘Have you tested for 22q?’
Peter Scambler

Journal of Medical Genetics Feb 2025, 62 (2) 147-149; DOI: 10.1136/jmg-2024-110504
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
Yuchen Chang, Julie Wacker, Jodie Ingles, Ivan Macciocca, Ingrid King, The Australian Genomics Cardiovascular Disorders Flagship, Christopher Semsarian, Julie McGaughran, Robert G Weintraub, Richard D Bagnall

Journal of Medical Genetics Feb 2024, 61 (2) 171-175; DOI: 10.1136/jmg-2023-109455
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren Bartik, Piotr Gnyś, Phillip Grote, Benjamin Odermatt, Heiko M Reutter, Gabriel C Dworschak

Journal of Medical Genetics Jun 2023, 60 (6) 587-596; DOI: 10.1136/jmg-2022-108738

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