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

R Bachmann-Gagescu; J C Dempsey; I G Phelps; B J O'Roak; D M Knutzen; T C Rue; G E Ishak; C R Isabella; N Gorden; J Adkins; E A Boyle; N de Lacy; D O'Day; A Alswaid; Radha Ramadevi A; L Lingappa; C Lourenço; L Martorell; À Garcia-Cazorla; H Ozyürek; G Haliloğlu; B Tuysuz; M Topçu; University of Washington Center for Mendelian Genomics; P Chance; M A Parisi; I A Glass; J Shendure; D Doherty

doi:10.1136/jmedgenet-2015-103087

Article info

PDF

PDF +
Supplementary
Material

Genotype-phenotype correlations

Original article

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

Authors

R Bachmann-Gagescu Institute for Molecular Life Sciences and Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articles Google scholar articles
J C Dempsey Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
I G Phelps Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
B J O'Roak Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA PubMed articles Google scholar articles
D M Knutzen Department of Oncology, Franciscan Health System, Tacoma, Washington, USA PubMed articles Google scholar articles
T C Rue Department of Biostatistics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
G E Ishak Department of Radiology, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA PubMed articles Google scholar articles
C R Isabella Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
N Gorden Department of Internal Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA PubMed articles Google scholar articles
J Adkins Division of Integrated Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizona, USA PubMed articles Google scholar articles
E A Boyle Department of Genome Sciences, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
N de Lacy Department of Psychiatry, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
D O'Day Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
A Alswaid Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Radha Ramadevi A Rainbow Children's Hospital, Hyderabad, India PubMed articles Google scholar articles
L Lingappa Department of Child Neurology, Rainbow Children Hospital, Hyderabad, India PubMed articles Google scholar articles
C Lourenço Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil PubMed articles Google scholar articles
L Martorell Department of Genetica Molecular, Hospital Sant Joan de Deu, Barcelona, Spain PubMed articles Google scholar articles
À Garcia-Cazorla Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain PubMed articles Google scholar articles
H Ozyürek Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey PubMed articles Google scholar articles
G Haliloğlu Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey PubMed articles Google scholar articles
B Tuysuz Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey PubMed articles Google scholar articles
M Topçu Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey PubMed articles Google scholar articles
University of Washington Center for Mendelian Genomics
Google scholar articles
P Chance Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
M A Parisi National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA PubMed articles Google scholar articles
I A Glass Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA PubMed articles Google scholar articles
J Shendure Department of Genome Sciences, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
D Doherty Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA PubMed articles Google scholar articles

Correspondence to Dr Dan Doherty, University of Washington, 1959 NE Pacific St, Room RR247, Box 356320, Seattle, WA 98195-6320, USA; ddoher{at}uw.edu

View Full Text

Citation

Bachmann-Gagescu R, Dempsey JC, Phelps IG, et al

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

Journal of Medical Genetics 2015;52:514-522.

Publication history

Received February 23, 2015
Revised May 21, 2015
Accepted June 1, 2015
First published June 19, 2015.

Online issue publication

April 27, 2016

Article Versions

Previous version (27 April 2016).
You are viewing the most recent version of this article.

Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Data supplement 1 - Online supplement

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Supplementary Data

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password