Brian H Chung

Brian H Y Chung

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Brian H Chung

Brian H Y Chung

Publications by authors named "Brian H Y Chung"

42Publications

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1PubMed Central Citations

Coffin-Lowry syndrome in Chinese.

Am J Med Genet A 2019 Oct 9;179(10):2043-2048. Epub 2019 Aug 9.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.a.61323DOI Listing
October 2019

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.

Parkinsonism Relat Disord 2019 Jun 17;63:42-45. Epub 2019 Jan 17.

Department of Paediatric and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.013DOI Listing
June 2019

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Am J Med Genet C Semin Med Genet 2019 06 21;181(2):208-217. Epub 2019 Mar 21.

Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.c.31692DOI Listing
June 2019

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.

Am J Med Genet C Semin Med Genet 2019 06 23;181(2):196-207. Epub 2019 Mar 23.

Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, HKSAR.

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http://dx.doi.org/10.1002/ajmg.c.31697DOI Listing
June 2019

The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.

Am J Med Genet C Semin Med Genet 2019 06 2;181(2):187-195. Epub 2019 May 2.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.

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http://dx.doi.org/10.1002/ajmg.c.31699DOI Listing
June 2019

A fatal case of -associated primary coenzyme Q deficiency.

JIMD Rep 2019 May 3;47(1):23-29. Epub 2019 Apr 3.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine Queen Mary Hospital, The University of Hong Kong Hong Kong SAR China.

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http://dx.doi.org/10.1002/jmd2.12032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498831PMC
May 2019

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

BMC Med Genomics 2018 Oct 25;11(1):93. Epub 2018 Oct 25.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.

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http://dx.doi.org/10.1186/s12920-018-0409-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202811PMC
October 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Mol Genet Genomic Med 2017 Jan 13;5(1):40-49. Epub 2016 Nov 13.

Department of Paediatrics and Adolescent MedicineLKS Faculty of MedicineThe University of Hong KongHong KongHong Kong; Department of Paediatrics and Adolescent MedicineQueen Mary HospitalHong KongHong Kong; Department of Paediatrics and Adolescent MedicineThe Duchess of Kent Children's Hospital at Sandy BayHong Kong.

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http://dx.doi.org/10.1002/mgg3.258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241212PMC
January 2017

Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome.

Eur J Med Genet 2016 Nov 2;59(11):573-576. Epub 2016 Oct 2.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong; Department of Paediatrics and Adolescent Medicine, HKU Shenzhen Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Shenzhen, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.10.001DOI Listing
November 2016

Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens.

Am J Med Genet A 2016 08 31;170(8):2069-77. Epub 2016 May 31.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

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http://dx.doi.org/10.1002/ajmg.a.37764DOI Listing
August 2016

The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

PLoS One 2014 15;9(10):e109629. Epub 2014 Oct 15.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China; Department of Obstetrics and Gynecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109629PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198120PMC
June 2015

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

Eur J Med Genet 2014 May-Jun;57(6):306-11. Epub 2014 Apr 8.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China; Department of Obstetrics & Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.014DOI Listing
February 2015

Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

PLoS One 2014 5;9(2):e87988. Epub 2014 Feb 5.

Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China ; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087988PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914896PMC
November 2014

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.

Am J Med Genet A 2014 Oct 16;164A(10):2521-8. Epub 2014 Jul 16.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.

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http://doi.wiley.com/10.1002/ajmg.a.36670
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http://dx.doi.org/10.1002/ajmg.a.36670DOI Listing
October 2014

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

Am J Med Genet A 2014 Feb 5;164A(2):461-6. Epub 2013 Nov 5.

Department of Paediatrics and Adolescent Medicine, Centre for Reproduction, Growth and Development, The University of Hong Kong, Hong Kong, Hong Kong.

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http://doi.wiley.com/10.1002/ajmg.a.36246
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http://dx.doi.org/10.1002/ajmg.a.36246DOI Listing
February 2014

A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling.

Eur J Med Genet 2014 Feb 28;57(2-3):81-4. Epub 2013 Dec 28.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China; Department of Obstetrics & Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.005DOI Listing
February 2014

Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.

Am J Med Genet A 2013 Jun 30;161A(6):1309-18. Epub 2013 Apr 30.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, and Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.

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http://dx.doi.org/10.1002/ajmg.a.35909DOI Listing
June 2013

A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?

Eur J Med Genet 2012 Dec 9;55(12):758-62. Epub 2012 Oct 9.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120027
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http://dx.doi.org/10.1016/j.ejmg.2012.09.011DOI Listing
December 2012

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

Eur J Med Genet 2011 Sep-Oct;54(5):e516-20. Epub 2011 Jun 29.

Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.008DOI Listing
December 2011

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Am J Med Genet A 2011 Feb;155A(2):424-9

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33821DOI Listing
February 2011

Functional impact of global rare copy number variation in autism spectrum disorders.

Authors:
Dalila Pinto Alistair T Pagnamenta Lambertus Klei Richard Anney Daniele Merico Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Joana Almeida Elena Bacchelli Gary D Bader Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Susan E Bryson Andrew R Carson Guillermo Casallo Jillian Casey Brian H Y Chung Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Cheryl Cytrynbaum Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Andrew Green Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Marion Pilorge Joseph Piven Chris P Ponting David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Ana F Sequeira Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Olaf Stein Nuala Sykes Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Caleb Webber Rosanna Weksberg Kirsty Wing Kerstin Wittemeyer Shawn Wood Jing Wu Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Bernie Devlin Sean Ennis Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Joachim Hallmayer Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Stephen W Scherer James S Sutcliffe Catalina Betancur

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1038/nature09146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021798PMC
July 2010

Mutation of gene in spinal muscular atrophy respiratory distress type I.

Pediatr Neurol 2006 Jun;34(6):474-7

Division of Neurodevelopmental Paediatrics, Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.10.022DOI Listing
June 2006

The evaluation of Wallerian degeneration in chronic paediatric middle cerebral artery infarction using diffusion tensor MR imaging.

Cerebrovasc Dis 2004 23;18(3):240-7. Epub 2004 Jul 23.

Department of Diagnostic Radiology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.

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http://dx.doi.org/10.1159/000079961DOI Listing
November 2004

Spinal muscular atrophy: survival pattern and functional status.

Pediatrics 2004 Nov 18;114(5):e548-53. Epub 2004 Oct 18.

Division of Neurodevelopmental Paediatrics, Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China.

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http://pediatrics.aappublications.org/content/pediatrics/114
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2004-0668DOI Listing
November 2004

Acute fulminant subacute sclerosing panencephalitis with absent measles and PCR studies in cerebrospinal fluid.

Pediatr Neurol 2004 Sep;31(3):222-4

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, China.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.03.016DOI Listing
September 2004

Subacute sclerosing panencephalitis in children: prevalence in South China.

Pediatr Neurol 2004 Jul;31(1):46-51

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.

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http://dx.doi.org/10.1016/j.pediatrneurol.2003.11.010DOI Listing
July 2004

Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia.

AJNR Am J Neuroradiol 2003 Jun-Jul;24(6):1181-3

Department of Diagnostic Radiology, Queen Mary Hospital, University of Hong Kong, 102 Pokfulam Road, Hong Kong, ROC.

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October 2003

Survey of public awareness, attitudes, and understanding toward epilepsy in Hong Kong.

Epilepsia 2003 Feb;44(2):268-9; author reply 269-70

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http://dx.doi.org/10.1046/j.1528-1157.2003.510023.xDOI Listing
February 2003