Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

Journal article

Open access

Peer reviewed

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, …

Journal of medical genetics, Vol.52(8), pp.514-522

01/08/2015

PMCID: PMC5082428

PMID: 26092869

Abstract

ciliopathy

genetic heterogeneity

genotype-phenotype

Joubert syndrome

next generation sequencing

targeted sequencing

url

https://doi.org/10.1136/jmedgenet-2015-103087View

Published (Version of record) Open

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Title: Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity
Creators - without role: Bachmann-Gagescu R - Hacettepe University
Dempsey JC - Hacettepe University
Phelps IG - Hacettepe University
O’Roak BJ - Hacettepe University
Knutzen DM - Hacettepe University
Rue TC - Hacettepe University
Ishak GE - Hacettepe University
Isabella CR - Hacettepe University
Gorden N - Hacettepe University
Adkins J - Hacettepe University
Boyle EA - Hacettepe University
de Lacy N - Hacettepe University
O’Day D - Hacettepe University
Alswaid A - Hacettepe University
Devi AR - Hacettepe University
Lingappa L - Hacettepe University
Lourenço C - Hacettepe University
Martorell L - Hacettepe University
Garcia-Cazorla À - Hacettepe University
Ozyürek H - Hacettepe University
Haliloğlu G - Hacettepe University
Tuysuz B - Hacettepe University
Topçu M - Hacettepe University
Chance P - Hacettepe University
Parisi MA - Hacettepe University
Glass I - Hacettepe University
Shendure J - Hacettepe University
Univ Washington
Doherty D - Hacettepe University
Abdulrahman Alswaid - King Abdulaziz University
Publication Details: Journal of medical genetics, Vol.52(8), pp.514-522
Identifiers: 9921413608331
Academic Unit: King Abdulaziz University; King Saud Bin Abdulaziz University for Health Sciences
Language: English
Resource Type: Journal article