Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Markus Schueler; Jan Halbritter; Ian G Phelps; Daniela A Braun; Edgar A Otto; Jonathan D Porath; Heon Yung Gee; Jay Shendure; Brian J O'Roak; Jennifer A Lawson; Marwa M Nabhan; Neveen A Soliman; Dan Doherty; Friedhelm Hildebrandt

doi:10.1136/jmedgenet-2015-103304

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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

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Markus Schueler Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Jan Halbritter Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Divison of Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig, Germany PubMed articles Google scholar articles
Ian G Phelps Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA PubMed articles Google scholar articles
Daniela A Braun Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Edgar A Otto Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Jonathan D Porath Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Heon Yung Gee Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Jay Shendure University of Washington, Genome Sciences, Seattle, Washington, USA PubMed articles Google scholar articles
Brian J O'Roak Oregon Health and Science University, Molecular and Medical Genetics, Portland, Oregon, USA PubMed articles Google scholar articles
Jennifer A Lawson Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Marwa M Nabhan Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt PubMed articles Google scholar articles
Neveen A Soliman Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt PubMed articles Google scholar articles
Dan Doherty Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA PubMed articles Google scholar articles
Friedhelm Hildebrandt Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA PubMed articles Google scholar articles

Correspondence to Professor Friedhelm Hildebrandt, Division of Nephrology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA; friedhelm.hildebrandt{at}childrens.harvard.edu Dan Doherty MD PhD Associate Professor of Pediatrics, Divisions of Developmental Medicine and Genetic Medicine, University of Washington, Seattle Children's Hospital, Seattle, WA 98195, USA; ddoher@uw.ed

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Schueler M, Halbritter J, Phelps IG, et al

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Journal of Medical Genetics 2016;53:208-214.

Publication history

Received June 9, 2015
Revised November 12, 2015
Accepted November 13, 2015
First published December 16, 2015.

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April 27, 2016

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