Publications by authors named "Christopher C Y Mak"

15Publications

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Mol Genet Genomic Med 2020 05 10;8(5):e1205. Epub 2020 Mar 10.

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

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http://dx.doi.org/10.1002/mgg3.1205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216811PMC
May 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Am J Med Genet A 2020 02 22;182(2):279-288. Epub 2019 Nov 22.

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.61412DOI Listing
February 2020

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

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

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

Parkinsonism Relat Disord 2019 06 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

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

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