Hui-Lin Chin

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 7

Top Topics

Pulmonary Arterial Hypertension

Saccharomyces Cerevisiae

Mitochondrial Dna

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Journal of molecular medicine (Berlin, Germany)

Journal of paediatrics and child health

This page only lists publications with an associated author ORCID identifier.

Publications

Hui-Lin Chin, Miles C Benton, Lin Yang, Kok-Siong Poon, Karen M L Tan, Saumya S Jamuar, Roger Foo, Hai Yang Law, Denise Li-Meng Goh, Samuel S Chong, Paola Florez de Sessions
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling. Molecular genetics & genomic medicine (2023)
Pierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, Yaoqing Shen, Stephanie Huynh, Kamilla Schlade-Bartusiak, Luka Culibrk, Simon Chan, Elizabeth M J Lee, Steven J M Jones, Hui-Lin Chin
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia. American journal of medical genetics. Part A 188 (5) (2022)
Jeremy Bingyuan Lin, Furene Sijia Wang, Hui-Lin Chin, Velda Xinying Han
An infant with hair like fur of a teddy bear. Journal of paediatrics and child health (2022)
Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, Michael Castaldo, Katherine Dixon, Kathryn Selby, Yaoqing Shen, Marie Wright, Elizabeth M J Lee, Glenda Hendson, Steven J M Jones
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype? American journal of medical genetics. Part A (2021)
Hui-Lin Chin, Kieran O'Neill, Kristal Louie, Lindsay Brown, Kamilla Schlade-Bartusiak, Patrice Eydoux, Rosemarie Rupps, Ali Farahani, Elizabeth M J Lee, Steven J M Jones
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment. American journal of medical genetics. Part A 185 (8) (2021)
Ashley Moller-Hansen, Stephanie Huynh, Elizabeth M J Lee, Hui-Lin Chin
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease. American journal of medical genetics. Part A (2021)
Hui-Lin Chin, Denise Li-Meng Goh, Furene Sijia Wang, Stacey Kiat Hong Tay, Chew Kiat Heng, Claudia Donnini, Enrico Baruffini, Ophry Pines
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. Journal of molecular medicine (Berlin, Germany) 97 (11) (2019)