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KBG syndrome in a Chinese population: A case series

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1693-1699

2022

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The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1626-1629

2022

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Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.984-990

2022

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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.267-273

2021

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Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.995-998

2021

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An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks‐Innes syndrome)

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1925-1931

2021

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CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.130-137

2022

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Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.636-646

2021

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Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2250-2261

2021

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.196-207

2019

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Mowat–Wilson syndrome in a Chinese population: A case series

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1336-1341

2020

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Rare SUZ12 variants commonly cause an overgrowth phenotype

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.532-547

2019

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Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63657-n/a

2024

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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1562-1567

2022

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CHARGE syndrome in nine patients from China

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.15-19

2020

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Coffin–Lowry syndrome in Chinese

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2043-2048

2019

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HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2049-2055

2019

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.208-217

2019

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ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell

BMC medical genomics, 2022-03, Vol.15 (1), p.43-14, Article 43

2022

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Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1938-1941

2016

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235 Genotype/phenotype correlations in 125 Chinese patients with tuberous sclerosis: a 29 years’ experience in hong kong

BMJ paediatrics open, 2021-04, Vol.5 (Suppl 1), p.A68-A68

2021

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

Clinical dysmorphology, 2019-07, Vol.28 (3), p.145

2019

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Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

Case reports in pediatrics, 2022, Vol.2022, p.7414628-6

2022

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A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2351-2355

2014

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KBG syndrome in a Chinese population: A case series

The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review

Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations

Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman

An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks‐Innes syndrome)

CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series

Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature

Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome

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

Mowat–Wilson syndrome in a Chinese population: A case series

Rare SUZ12 variants commonly cause an overgrowth phenotype

Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers

Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications

CHARGE syndrome in nine patients from China

Coffin–Lowry syndrome in Chinese

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

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

ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

235 Genotype/phenotype correlations in 125 Chinese patients with tuberous sclerosis: a 29 years’ experience in hong kong

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

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

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