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Clinical characteristics and outcome of omphalocele and gastroschisis: a 20-year multicenter regional experience.
- Published in:
- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05783-0
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- Article
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis.
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- Prenatal Diagnosis, 2024, v. 44, n. 6/7, p. 821, doi. 10.1002/pd.6581
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- Publication type:
- Article
Revealing the role of SPP1<sup>+</sup> macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas.
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- Cell & Bioscience, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13578-024-01218-4
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- Publication type:
- Article
Unraveling the role of vaporization momentum in self-jumping dynamics of freezing supercooled droplets at reduced pressures.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45928-2
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- Publication type:
- Article
Unraveling the role of vaporization momentum in self-jumping dynamics of freezing supercooled droplets at reduced pressures.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45928-2
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- Article
Client Service Receipt Inventory for rare genetic diseases in Hong Kong: abridged secondary publication.
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- Hong Kong Medical Journal, 2024, v. 30, p. 23
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- Publication type:
- Article
Genome-wide DNA methylation profiling for central nervous system embryonal tumours in children: abridged secondary publication.
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- Hong Kong Medical Journal, 2024, v. 30, p. 29
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- Article
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
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- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00535-y
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- Publication type:
- Article
Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong.
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- Cancers, 2023, v. 15, n. 19, p. 4880, doi. 10.3390/cancers15194880
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- Article
Enhancing Cementitious Composites with Functionalized Graphene Oxide-Based Materials: Surface Chemistry and Mechanisms.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10461, doi. 10.3390/ijms241310461
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- Article
Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study.
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- Pediatric Allergy & Immunology, 2023, v. 34, n. 7, p. 1, doi. 10.1111/pai.13987
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- Article
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 4, p. 1, doi. 10.1002/pbc.30157
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- Publication type:
- Article
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders.
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- Antioxidants, 2023, v. 12, n. 3, p. 718, doi. 10.3390/antiox12030718
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- Publication type:
- Article
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.
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- Journal of the American Heart Association, 2023, v. 12, n. 4, p. 1, doi. 10.1161/JAHA.122.028226
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- Publication type:
- Article
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00347-4
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- Publication type:
- Article
Collagen Alignment via Electro-Compaction for Biofabrication Applications: A Review.
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- Polymers (20734360), 2022, v. 14, n. 20, p. 4270, doi. 10.3390/polym14204270
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- Article
Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report.
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- Hong Kong Medical Journal, 2022, v. 28, n. 5, p. 406, doi. 10.12809/hkmj219513
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- Article
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.
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- Hong Kong Medical Journal, 2022, v. 28, n. 4, p. 328, doi. 10.12809/hkmj219503
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- Publication type:
- Article
Long-term follow-up of biliary atresia using liver transient elastography.
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- Pediatric Surgery International, 2022, v. 38, n. 7, p. 1013, doi. 10.1007/s00383-022-05137-8
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- Publication type:
- Article
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1562, doi. 10.1002/ajmg.a.62665
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- Publication type:
- Article
Tissue-level alveolar epithelium model for recapitulating SARS-CoV-2 infection and cellular plasticity.
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- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03026-3
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- Publication type:
- Article
Effect of Graphene Addition on Polycaprolactone Scaffolds Fabricated Using Melt-Electrowriting.
- Published in:
- Polymers (20734360), 2022, v. 14, n. 2, p. 319, doi. 10.3390/polym14020319
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- Publication type:
- Article
Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03379-5
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- Article
Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series.
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- Hong Kong Medical Journal, 2021, v. 27, n. 6, p. 444, doi. 10.12809/hkmj209001
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- Article
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong.
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- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1640, doi. 10.1002/jgc4.1430
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- Article
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1702
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- Publication type:
- Article
Epidemiology and outcomes of geriatric and non-geriatric patients with drug allergy labels in Hong Kong.
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- Hong Kong Medical Journal, 2021, v. 27, n. 3, p. 192, doi. 10.12809/hkmj208716
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- Article
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases.
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- Prenatal Diagnosis, 2021, v. 41, n. 6, p. 697, doi. 10.1002/pd.5911
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- Publication type:
- Article
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases.
- Published in:
- 2021
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- Publication type:
- journal article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
- Published in:
- 2021
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- Publication type:
- letter
'Do language and culture really matter?': A trans‐disciplinary investigation of cultural diversity in genetic counseling in Hong Kong.
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- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 75, doi. 10.1002/jgc4.1385
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- Article
Incidence of subsequent osteoporotic fractures after distal radius fractures and mortality of the subsequent distal radius fractures: a retrospective analysis of claims data of the Korea National Health Insurance Service.
- Published in:
- Osteoporosis International, 2021, v. 32, n. 2, p. 293, doi. 10.1007/s00198-020-05609-4
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- Publication type:
- Article
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 57, n. 1, p. 43, doi. 10.1002/uog.22072
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- Publication type:
- Article
Hepatitis B Virus Seropositivity Is a Poor Prognostic Factor of Pediatric Hepatocellular Carcinoma: a Population-Based Study in Hong Kong and Singapore.
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- Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.570479
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- Article
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00144-x
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- Publication type:
- Article
Indocyanine green fluorescence-assisted laparoscopic hepatectomy for hepatocellular carcinoma in a pre-adolescent girl: a case report.
- Published in:
- Hong Kong Medical Journal, 2020, v. 26, n. 4, p. 342, doi. 10.12809/hkmj198106
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- Publication type:
- Article
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
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- Publication type:
- Article
A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1329, doi. 10.1002/ajmg.a.61567
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- Publication type:
- Article
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1205
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- Publication type:
- Article
Short-term and long-term outcomes after Roux-en-Y hepaticojejunostomy versus hepaticoduodenostomy following laparoscopic excision of choledochal cyst in children.
- Published in:
- 2020
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- Publication type:
- journal article
Quality of life and defecative function 10 years or longer after posterior sagittal anorectoplasty and laparoscopic-assisted anorectal pull-through for anorectal malformation.
- Published in:
- 2020
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- Publication type:
- journal article
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 279, doi. 10.1002/ajmg.a.61412
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- Publication type:
- Article
Rare SUZ12 variants commonly cause an overgrowth phenotype.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 532, doi. 10.1002/ajmg.c.31748
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- Publication type:
- Article
Coffin–Lowry syndrome in Chinese.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2043, doi. 10.1002/ajmg.a.61323
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- Publication type:
- Article
Factors affecting willingness to get assessed and treated for osteoporosis.
- Published in:
- Osteoporosis International, 2019, v. 30, n. 7, p. 1395, doi. 10.1007/s00198-019-04952-5
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- Publication type:
- Article
The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 187, doi. 10.1002/ajmg.c.31699
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- Publication type:
- Article
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 196, doi. 10.1002/ajmg.c.31697
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- Publication type:
- Article
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 208, doi. 10.1002/ajmg.c.31692
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- Publication type:
- Article
A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 23, doi. 10.1002/jmd2.12032
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- Publication type:
- Article
Treatment outcome and pattern of failure in hepatoblastoma treated with a consensus protocol in Hong Kong.
- Published in:
- 2019
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- Publication type:
- journal article