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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Trio Exome Sequencing in VACTERL Association

Jasmina Ćomić1,2, Erik Tilch1, Korbinian M Riedhammer1,2,3

  • 1Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.

Kidney International Reports
|April 14, 2025
PubMed
Abstract

Keywords:
VACTERL associationVACTERL-like phenotypeZNF417burden testexome sequencingmitochondriopathy

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