Stephanie L. Ho

Sar, China

Last Updated: 09/26/2026

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Found 13 publications

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: March 16, 2026

Population-scale genomic medicine with the Hong Kong Genome Project.

Population-scale genomic medicine with the Hong Kong Genome Project.

Journal: Nature medicine

Published: September 09, 2025

Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus.

Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus.

Journal: Clinical dysmorphology

Published: June 30, 2025

Exploring ATP6V1B2 -related disorders: a case report-based literature review.

Exploring ATP6V1B2 -related disorders: a case report-based literature review.

Journal: Clinical dysmorphology

Published: June 04, 2025

Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.

Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.

Journal: American journal of medical genetics. Part A

Published: May 29, 2025

Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.

Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.

Journal: HGG advances

Published: March 07, 2025

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Journal: The Lancet regional health. Western Pacific

Published: August 14, 2024

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

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

Journal: American journal of medical genetics. Part A

Published: March 13, 2024

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Journal: Cancer genetics

Published: March 05, 2024

Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.

Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.

Journal: European journal of medical genetics

Published: July 05, 2021

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

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

Journal: American journal of medical genetics. Part A

Published: May 06, 2021

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

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

Journal: American journal of medical genetics. Part A

Published: April 09, 2021

Showing 1-12 of 13

Last Updated: 09/26/2026