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Journal of Genetic Counseling|July 13, 2017
A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in AsiaMercy Y Laurino, Kathleen A Leppig, Peter James Abad, et al.
Molecular Genetics and Metabolism|August 8, 2025
Deep phenotyping of patients with citrin deficiency in Singapore- single centre experienceMildrid Yeo, Jeannette Lay Kuan Goh, Ai Ling Koh, et al.
American Journal of Nephrology|December 3, 2024
Clinical Implementation of Nephrologist-Led Genomic Testing for Glomerular Diseases in Singapore: Rationale and ProtocolCynthia Lim, Ru Sin Lim, Jason Choo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Frontiers in Immunology|July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohortBenedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
Archives of Disease in Childhood|August 22, 2020
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical ManagementNeha S Bhatia, Jiin Ying Lim, Carine Bonnard, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Genetics in Medicine Open|June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.
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