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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Human genomics, 2023-10, Vol.17 (1), p.1-91, Article 91

2023

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Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong

PloS one, 2014-02, Vol.9 (2), p.e87988-e87988

2014

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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Npj genomic medicine, 2022-12, Vol.7 (1), p.74-74, Article 74

2022

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The clinical impact of chromosomal microarray on paediatric care in Hong Kong

PloS one, 2014-10, Vol.9 (10), p.e109629-e109629

2014

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

BMC medical genomics, 2018-10, Vol.11 (1), p.93-93, Article 93

2018

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Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2521-2528

2014

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Adrenomedullin has a pivotal role in trophoblast differentiation: A promising nanotechnology-based therapeutic target for early-onset preeclampsia

Science advances, 2023-11, Vol.9 (44), p.eadi4777-eadi4777

2023

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

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1229-n/a

2020

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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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Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: Report and a review of literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1309-1318

2013

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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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Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases

Prenatal diagnosis, 2021-05, Vol.41 (6), p.697-700

2021

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Optimal timing of hepatitis B virus DNA quantification and clinical predictors for higher viral load during pregnancy

Acta obstetricia et gynecologica Scandinavica, 2019-10, Vol.98 (10), p.1301-1306

2019

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Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome

Hong Kong medical journal = Xianggang yi xue za zhi, 2016-06, Vol.22 (3), p.223-230

2016

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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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Prenatal diagnosis of 5p deletion syndrome: Report of five cases

The journal of obstetrics and gynaecology research, 2019-04, Vol.45 (4), p.923-926

2019

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Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report

Hong Kong medical journal = Xianggang yi xue za zhi, 2024-05, Vol.30 (4), p.328

2024

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Dysregulation of the CD147 complex confers defective placental development: A pathogenesis of early‐onset preeclampsia

Clinical and translational medicine, 2022-06, Vol.12 (6), p.e826-n/a

2022

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Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care

European journal of medical genetics, 2014-05, Vol.57 (6), p.306-311

2014

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First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family

Hemoglobin, 2017-05, Vol.41 (3), p.175-179

2017

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An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations

Hemoglobin, 2016-11, Vol.40 (6), p.431-434

2016

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A Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16

Hemoglobin, 2016-01, Vol.40 (1), p.66-69

2016

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A prospective randomized comparison of sublingual and oral misoprostol when combined with mifepristone for medical abortion at 12–20 weeks gestation

Human reproduction (Oxford), 2005-11, Vol.20 (11), p.3062-3066

2005

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A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling

European journal of medical genetics, 2014-02, Vol.57 (2), p.81-84

2014

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

American journal of medical genetics. Part A, 2024-09, Vol.194 (9)

2024

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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

The clinical impact of chromosomal microarray on paediatric care in Hong Kong

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

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation

Adrenomedullin has a pivotal role in trophoblast differentiation: A promising nanotechnology-based therapeutic target for early-onset preeclampsia

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

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

Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: Report and a review of literature

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

Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases

Optimal timing of hepatitis B virus DNA quantification and clinical predictors for higher viral load during pregnancy

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome

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

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report

Dysregulation of the CD147 complex confers defective placental development: A pathogenesis of early‐onset preeclampsia

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care

First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations

A Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16

A prospective randomized comparison of sublingual and oral misoprostol when combined with mifepristone for medical abortion at 12–20 weeks gestation

A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling

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

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