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

Journal of Medical Genetics

Volumn 53, Issue 3, 2016, Pages 208-214

  Schueler, Markus ^a   Halbritter, Jan ^a,b   Phelps, Ian G ^c   Braun, Daniela A ^a   Otto, Edgar A ^d   Porath, Jonathan D ^a   Gee, Heon Yung ^a   Shendure, Jay ^e   O'Roak, Brian J ^f   Lawson, Jennifer A ^a   Nabhan, Marwa M ^g,h   Soliman, Neveen A ^g,h   Doherty, Dan ^c   Hildebrandt, Friedhelm ^a,i  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g CAIRO UNIVERSITY   (Egypt)

^h Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOINFORMATICS; BLOOD SAMPLING; CHRONIC KIDNEY DISEASE; COMPARATIVE STUDY; CONSANGUINITY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; HUMAN; HUMAN GENOME; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHRONOPHTHISIS RELATED CILIOPATHY; PRIORITY JOURNAL; GENETICS; HIGH THROUGHPUT SEQUENCING; SENSITIVITY AND SPECIFICITY;

GENETIC HETEROGENEITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KIDNEY DISEASES, CYSTIC; MOLECULAR DIAGNOSTIC TECHNIQUES; SENSITIVITY AND SPECIFICITY;

EID: 84960091396     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103304     Document Type: Article

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