Publications by authors named "Steven Pei"

6Publications

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

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