Lista de obras -

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome

artículo científico publicado en 2020

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

artículo científico publicado en 2020

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

artículo científico publicado en 2021

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data

artículo científico publicado en 2020

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

artículo científico publicado en 2017

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).

artículo científico publicado en 2017

Coffin-Lowry syndrome in Chinese

artículo científico publicado en 2019

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

scientific article published in 2022

Development of clinical genetics in Asia

scientific article published on 29 April 2019

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

artículo científico publicado en 2020

Headache in a Child with Pseudohypoparathyroidism: An Alarming Symptom Not to Miss

artículo científico publicado en 2020

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

article

Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics

artículo científico publicado en 2021

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

artículo científico publicado en 2017

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

scientific article published on 25 October 2018

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

artículo científico publicado en 2017

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature

artículo científico publicado en 2020

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

scientific article published on 05 August 2019

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

artículo científico publicado en 2021

The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes

scientific article published on 30 April 2020

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10

artículo científico publicado en 2017

Lista de obras de

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).

Coffin-Lowry syndrome in Chinese

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

Development of clinical genetics in Asia

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

Headache in a Child with Pseudohypoparathyroidism: An Alarming Symptom Not to Miss

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

Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

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

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10