Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Konstantin Deutsch, Verena Klämbt, Thomas M. Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad, Muna Al-Saffar, Neveen A. Soliman, Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum, Sophia SchneiderAbdul Halawi, Izzeldin Elmubarak, Katharina Lemberg, Shirlee Shril, Shrikant M. Mane, Nancy Rodig, Friedhelm Hildebrandt

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Article number101111
JournalGenes and Diseases
Volume11
Issue number5
DOIs
Publication statusPublished - Sept 2024

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics(clinical)
  • Cell Biology

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