Publications by authors named "Brian Hon-Yin Chung"

49Publications

CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

BMJ Case Rep 2020 Jul 22;13(7). Epub 2020 Jul 22.

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

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http://dx.doi.org/10.1136/bcr-2019-233037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7380955PMC
July 2020

Coexistence of paternally-inherited mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.

Int J Pediatr Endocrinol 2020 10;2020:13. Epub 2020 Jul 10.

Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.

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http://dx.doi.org/10.1186/s13633-020-00083-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350603PMC
July 2020

Mowat-Wilson syndrome in a Chinese population: A case series.

Am J Med Genet A 2020 06 20;182(6):1336-1341. Epub 2020 Mar 20.

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

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http://dx.doi.org/10.1002/ajmg.a.61557DOI Listing
June 2020

Training in clinical genetics and genetic counseling in Asia.

Am J Med Genet C Semin Med Genet 2019 06 29;181(2):177-186. Epub 2019 Apr 29.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31703
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http://dx.doi.org/10.1002/ajmg.c.31703DOI Listing
June 2019

Myhre syndrome: a report of six Chinese patients and literature review.

Clin Dysmorphol 2019 Jul;28(3):145-150

Clinical Genetic Service, Department of Health.

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http://dx.doi.org/10.1097/MCD.0000000000000271DOI Listing
July 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

[Standard training and certification of clinical geneticist in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):28-31

Section of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado, University of Colorado,Aurora, CO 80045, USA. Email:

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.005DOI Listing
January 2019

[Standardization and accreditation of training programs in clinical genetics in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):7-12

Section of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, CO 80045, USA. Email:

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.002DOI Listing
January 2019

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

Am J Med Genet A 2018 11 5;176(11):2523-2527. Epub 2018 Oct 5.

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

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http://doi.wiley.com/10.1002/ajmg.a.40349
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http://dx.doi.org/10.1002/ajmg.a.40349DOI Listing
November 2018

Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets.

Orphanet J Rare Dis 2018 08 28;13(1):147. Epub 2018 Aug 28.

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China.

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http://dx.doi.org/10.1186/s13023-018-0892-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114034PMC
August 2018

Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation.

Child Neurol Open 2018 19;5:2329048X18769811. Epub 2018 Apr 19.

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

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http://dx.doi.org/10.1177/2329048X18769811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946598PMC
April 2018

A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening.

Prenat Diagn 2018 04 13;38(5):376-378. Epub 2018 Mar 13.

Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Special Administrative Region, China.

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http://dx.doi.org/10.1002/pd.5241DOI Listing
April 2018

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

Eur J Med Genet 2018 Apr 27;61(4):219-224. Epub 2017 Nov 27.

Department of Paediatrics and Adolescent Medicine, University of Hong Kong, HKSAR, Hong Kong. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.018DOI Listing
April 2018

Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.

Am J Med Genet A 2017 Apr;173(4):978-984

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.38105DOI Listing
April 2017

A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.

Am J Med Genet A 2017 Apr;173(4):1109-1114

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

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http://dx.doi.org/10.1002/ajmg.a.38118DOI Listing
April 2017

Prenatal Tobacco Exposure Shortens Telomere Length in Children.

Nicotine Tob Res 2017 01 18;19(1):111-118. Epub 2016 May 18.

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

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http://dx.doi.org/10.1093/ntr/ntw139DOI Listing
January 2017

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma.

BMJ Case Rep 2014 Nov 18;2014. Epub 2014 Nov 18.

Department of Paediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1136/bcr-2014-203919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244520PMC
November 2014

Validation and application of health utilities index in Chinese subjects with down syndrome.

Health Qual Life Outcomes 2014 Oct 14;12:144. Epub 2014 Oct 14.

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, People's Republic of China.

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http://dx.doi.org/10.1186/s12955-014-0144-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207901PMC
October 2014

Copy number variation and autism: new insights and clinical implications.

J Formos Med Assoc 2014 Jul 13;113(7):400-8. Epub 2013 Mar 13.

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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http://dx.doi.org/10.1016/j.jfma.2013.01.005DOI Listing
July 2014

EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome.

BMC Genomics 2014 Jun 10;15:455. Epub 2014 Jun 10.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, 5 Sassoon Road, Hong Kong, China.

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http://dx.doi.org/10.1186/1471-2164-15-455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061446PMC
June 2014

Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics.

J Genet Couns 2013 Dec 19;22(6):917-24. Epub 2013 Sep 19.

School of English, The University of Hong Kong, Faculty of Arts, Centennial Campus, the University of Hong Kong, Room 738, 7/F, Run Run Shaw Tower (Building B, Arts) Pokfulam Road, Hong Kong SAR, China,

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http://dx.doi.org/10.1007/s10897-013-9646-7DOI Listing
December 2013

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.

BMJ Case Rep 2013 Jan 22;2013. Epub 2013 Jan 22.

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1136/bcr-2012-007529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604426PMC
January 2013

Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

Am J Hum Genet 2013 Jan 27;92(1):41-51. Epub 2012 Dec 27.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Hong Kong.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542470PMC
January 2013

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Am J Med Genet A 2009 Jul;149A(7):1452-9

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

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http://dx.doi.org/10.1002/ajmg.a.32918DOI Listing
July 2009

Inherited thrombophilic factors do not increase central venous catheter blockage in children with malignancy.

Pediatr Blood Cancer 2008 Oct;51(4):509-12

Department of Paediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong.

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http://doi.wiley.com/10.1002/pbc.21617
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http://dx.doi.org/10.1002/pbc.21617DOI Listing
October 2008

Spectrum of anticonvulsant hypersensitivity syndrome: controversy of treatment.

J Child Neurol 2004 Aug;19(8):619-23

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

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http://dx.doi.org/10.1177/088307380401900810DOI Listing
August 2004