Exome survey of individuals affected by VATER / VACTERL with renal phenotypes identifies phenocopies and novel candidate genes-Reference-Cited by-同舟云学术

Exome survey of individuals affected by VATER / VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Published:2021-08-02 Issue:12 Volume:185 Page:3784-3792
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kolvenbach Caroline M.¹²^ORCID,Ven Amelie T.¹,Kause Franziska¹²,Shril Shirlee¹,Scala Marcello³⁴,Connaughton Dervla M.¹,Mann Nina¹,Nakayama Makiko¹,Dai Rufeng¹,Kitzler Thomas M.¹,Schneider Ronen¹,Schierbaum Luca¹²,Schneider Sophia¹²^ORCID,Accogli Andrea³,Torella Annalaura⁵⁶,Piatelli Gianluca⁷,Nigro Vincenzo⁵⁶,Capra Valeria⁸,Hoppe Bernd⁹,Märzheuser Stefanie¹⁰,Schmiedeke Eberhard¹¹,Rehm Heidi L.¹²,Mane Shrikant¹³¹⁴,Lifton Richard P.¹³¹⁴,Dworschak Gabriel C.²¹⁵,Hilger Alina C.²¹⁵,Reutter Heiko¹⁵¹⁶¹⁷^ORCID,Hildebrandt Friedhelm¹^ORCID

Affiliation:

1. Department of Medicine, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

2. Department of Pediatrics University Hospital Bonn Bonn Germany

3. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy

4. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannia Gaslini University of Genoa Genoa Italy

5. Department of Precision Medicine University of Campania “Luigi Vanvitelli” Naples Italy

6. Telethon Institute of Genetics and Medicine Pozzuoli Italy

7. Department of Neurosurgery Gaslini Children's Hospital Genoa Italy

8. Medical Genetics Unit IRCCS Gianna Gaslini Institute Genoa Italy

9. Kindernierenzentrum Bonn Bonn Germany

10. Department of Pediatric Surgery, Campus Virchow Clinic Charité University Hospital Berlin Berlin Germany

11. Department of Pediatric Surgery and Urology Center for Child and Youth Health, Klinikum Bremen‐Mitte Bremen Germany

12. Program in Medical and Population Genetics Broad Institute of Massachusetts Institute of Technology and Harvard Cambridge Massachusetts USA

13. Department of Genetics Yale University School of Medicine New Haven Connecticut USA

14. Yale Center for Mendelian Genomics Yale University School of Medicine New Haven Connecticut USA

15. Institute of Human Genetics, Medical Faculty, University of Bonn Bonn Germany

16. Department of Neonatology and Pediatric Intensive Care University Hospital Bonn Bonn Germany

17. Department of Neonatology and Pediatric Intensive Care University Hospital Erlangen Erlangen Germany

Funder

Deutsche Forschungsgemeinschaft

Foundation for the National Institutes of Health

Health Research Board

National Human Genome Research Institute

Canadian Institutes of Health Research

CSN

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62447

Reference28 articles.

1. Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association

2. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

3. Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

4. VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

5. Anorectal anomalies associated with or as part of other anomalies

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