High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Jan Halbritter; Katrina Diaz; Moumita Chaki; Jonathan D Porath; Brendan Tarrier; Clementine Fu; Jamie L Innis; Susan J Allen; Robert H Lyons; Constantinos J Stefanidis; Heymut Omran; Neveen A Soliman; Edgar A Otto

doi:10.1136/jmedgenet-2012-100973

Article info

Methods

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Authors

Jan Halbritter Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Katrina Diaz Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Moumita Chaki Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Jonathan D Porath Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Brendan Tarrier DNA Sequencing Core, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Clementine Fu Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Jamie L Innis Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Susan J Allen Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Robert H Lyons DNA Sequencing Core, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Constantinos J Stefanidis Pediatric Nephrology, ‘A. and P. Kyriakou’ Children's Hospital, Athens, Greece PubMed articles Google scholar articles
Heymut Omran Department of Pediatrics and Adolescent Medicine, University Hospital Münster, Münster, Germany PubMed articles Google scholar articles
Neveen A Soliman Center of Pediatric Nephrology & Transplantation, Cairo University, Cairo, EgyptEgyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt PubMed articles Google scholar articles
Edgar A Otto Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles

Correspondence to Dr Edgar A Otto, Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5646, USA; eotto{at}umich.edu

View Full Text

Citation

Halbritter J, Diaz K, Chaki M, et al

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Journal of Medical Genetics 2012;49:756-767.

Publication history

Received April 17, 2012
Revised September 7, 2012
Accepted October 1, 2012
First published November 27, 2012.

Online issue publication

November 27, 2012

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

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password