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

National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. ShawPaul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number100232
JournalHuman Genetics and Genomics Advances
Issue number4
Number of pages13
Publication statusPublished - 12 Oct 2023
MoE publication typeA1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© 2023 The Author(s)

Fields of Science

  • association
  • congenital heart defect
  • development
  • exome sequencing
  • frog
  • oligogenic
  • Xenopus
  • 3121 General medicine, internal medicine and other clinical medicine
  • 1184 Genetics, developmental biology, physiology

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