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 Schneider,
• Abdul Halawi,
• Izzeldin Elmubarak,
• Katharina Lemberg,
• Shirlee Shril,
• Shrikant M. Mane,
• Nancy Rodig,
• Friedhelm Hildebrandt

Affiliations

Konstantin Deutsch

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Verena Klämbt

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin 13353, Germany; Berlin Institute of Health at Charité – Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin 10178, Germany

Thomas M. Kitzler

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Tilman Jobst-Schwan

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany

Ronen Schneider

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Florian Buerger

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Steve Seltzsam

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Sherif El Desoky

Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia

Jameela A. Kari

Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia

Farkhanda Hafeez

Department of Pediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan

Maria Szczepańska

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice 40-752, Poland

Loai A. Eid

Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates

Hazem S. Awad

Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates

Muna Al-Saffar

Department of Genetics and Genomics, UAE University, Abu Dhabi 15551, United Arab Emirates; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Neveen A. Soliman

Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo 11511, Egypt

Velibor Tasic

Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia

Camille Nicolas-Frank

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Kirollos Yousef

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Luca M. Schierbaum

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Sophia Schneider

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Abdul Halawi

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Izzeldin Elmubarak

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Katharina Lemberg

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Shirlee Shril

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA

Shrikant M. Mane

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA

Nancy Rodig

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA; Corresponding author. Berlin Institute of Health at Charité – Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin 10178, Germany.

Friedhelm Hildebrandt

Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA; Corresponding author. Berlin Institute of Health at Charité – Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin 10178, Germany.