Publications by authors named "Belinda Chong"

22Publications

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.

Am J Med Genet A 2016 12 1;170(12):3327-3332. Epub 2016 Oct 1.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37954DOI Listing
December 2016

A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype.

Eur Heart J Cardiovasc Imaging 2014 Oct 12;15(10):1108-16. Epub 2014 May 12.

Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes Institute, Melbourne, Australia

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ehjci/jeu077DOI Listing
October 2014

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

Neurol India 2009 Jul-Aug;57(4):406-10

Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.55603DOI Listing
November 2009

Population screening and cascade testing for carriers of SMA.

Eur J Hum Genet 2007 Jul 28;15(7):759-66. Epub 2007 Mar 28.

Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201821DOI Listing
July 2007

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

J Mol Diagn 2005 Oct;7(4):525-34

Diagnostic Sequencing Laboratory, Medical Genetics Laboratories, Baylor College of Medicine-NAB 2015, One Baylor Plaza, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1888496PMC
http://dx.doi.org/10.1016/S1525-1578(10)60584-3DOI Listing
October 2005

A homozygous mutation in MSH6 causes Turcot syndrome.

Clin Cancer Res 2005 Jul;11(13):4689-93

Diagnostic Sequencing Laboratory, Department of Molecular and Human Genetics and Texas Children's Cancer Center, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1078-0432.CCR-04-2025DOI Listing
July 2005