Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Paul Kruszka; Pranoot Tanpaiboon; Katherine Neas; Kathleen Crosby; Seth I Berger; Ariel F Martinez; Yonit A Addissie; Yupada Pongprot; Rekwan Sittiwangkul; Suchaya Silvilairat; Krit Makonkawkeyoon; Lan Yu; Julia Wynn; James T Bennett; Heather C Mefford; William T Reynolds; Xiaoqin Liu; Mathilda T M Mommersteeg; Wendy K Chung; Cecilia W Lo; Maximilian Muenke

doi:10.1136/jmedgenet-2017-104611

Article info

Developmental defects

Short report

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Authors

Paul Kruszka Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA PubMed articles Google scholar articles
Katherine Neas Genetic Health Service New Zealand (Central Hub), Wellington, New Zealand PubMed articles Google scholar articles
Kathleen Crosby Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA PubMed articles Google scholar articles
Seth I Berger Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Ariel F Martinez Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Yonit A Addissie Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Yupada Pongprot Division of Pediatric Cardiology, Department of Pediatrics, Chiangmai University, Chiang Mai, Thailand PubMed articles Google scholar articles
Rekwan Sittiwangkul Division of Pediatric Cardiology, Department of Pediatrics, Chiangmai University, Chiang Mai, Thailand PubMed articles Google scholar articles
Suchaya Silvilairat Division of Pediatric Cardiology, Department of Pediatrics, Chiangmai University, Chiang Mai, Thailand PubMed articles Google scholar articles
Krit Makonkawkeyoon Division of Pediatric Cardiology, Department of Pediatrics, Chiangmai University, Chiang Mai, Thailand PubMed articles Google scholar articles
Lan Yu Department of Pediatrics, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Julia Wynn Department of Pediatrics, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
James T Bennett Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, Washington, USA PubMed articles Google scholar articles
Heather C Mefford Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
William T Reynolds Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA PubMed articles Google scholar articles
Xiaoqin Liu Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA PubMed articles Google scholar articles
Mathilda T M Mommersteeg Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Wendy K Chung Department of Pediatrics, Columbia University Medical Center, New York, New York, USA Department of Medicine, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Cecilia W Lo Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA PubMed articles Google scholar articles
Maximilian Muenke Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles

Correspondence to Dr Paul Kruszka, Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B-203, Bethesda, MD 20892, USA; paul.kruszka{at}nih.gov

View Full Text

Citation

Kruszka P, Tanpaiboon P, Neas K, et al

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Journal of Medical Genetics 2017;54:825-829.

Publication history

Received February 25, 2017
Revised April 6, 2017
Accepted April 19, 2017
First published June 7, 2017.

Online issue publication

February 26, 2018

Article Versions

Previous version (23 November 2017).
You are viewing the most recent version of this article.

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.

Main menu

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

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

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password