Hui-Lin Chin - Dissemin

All papers authored by Hui-Lin Chin

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2023 Hui-Lin Chin

, Joyce Ching Mei Lam, Dheepa Christopher, Poon Limei Michelle, Benedict Yan Junrong

Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

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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

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Pradip Dashraath, Karen M. X. Lim, Hui-Lin Chin

, Azleen Sidek, Derrick W. Q. Lian, Arundhati Gosavi, Pei Lin Koh, Arijit Biswas, Denise L. M. Goh

Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene

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Julia Handra, Adrienne Elbert, Nour Gazzaz, Ashley Moller-Hansen, Stephanie Hyunh, Hyun Kyung Lee, Pierre Boerkoel, Emily Alderman, Erin Anderson, Lorne Clarke, Sara Hamilton, Ronnalea Hamman, Shevaun Hughes, Simon Ip, Sylvie Langlois and 15 other authors

The practice of genomic medicine: A delineation of the process and its governing principles

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DeniseLi Meng Goh, Hui-Lin Chin

Pitfalls in clinical genetics

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2022 Kay W. P. Ng, Hui-Lin Chin

, Amanda X. Y. Chin, Denise Li-Meng Goh

Using gene panels in the diagnosis of neuromuscular disorders: A mini-review

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Pradip Dashraath, Soe-Na Choo, Harvard Lin, Hui-Lin Chin

, Lin Lin Su, Mary Rauff, Mahesh Choolani

Covert Ehlers-Danlos syndrome in pregnancy

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Hui-Lin Chin

, Nour Gazzaz, Stephanie Huynh, Iulia Handra, Lynn Warnock, Ashley Moller-Hansen, Pierre Boerkoel, Julius O. B. Jacobsen, Christèle du Souich, Nan Zhang, Kent Shefchek, Leah M. Prentice, Nicole Washington, Melissa Haendel, Linlea Armstrong and 5 other authors

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

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Julius O. B. Jacobsen, Andreas Zankl, Michael Baudis, Gareth S. Baynam, Jacques S. Beckmann, Sergi Beltran, Orion J. Buske, Tiffany J. Callahan, Buske Oj, Christopher G. Chute, Callahan Tj, Mélanie Courtot, Daniel Danis, Olivier Elemento, Robert R. Freimuth and 67 other authors

The GA4GH Phenopacket schema defines a computable representation of clinical data

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Hui-Lin Chin

, Susan Lin, Joshua Dalmann, Bhavi Modi

, Emily Alderman, Areesha Salman

, Kate L. Del Bel, Anna Lehman, Stuart E. Turvey

, Cornelius F. Boerkoel

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

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Katherine Dixon, Yaoqing Shen, Hui-Lin Chin

, Nour Gazzaz, Stephanie Huynh, Simon Chan, Cathy Zhang, Luka Culibrk, Kieran O'Neill, Karen Mungall, Andrew Mungall, Richard Moore, William Gibson, Jean-Pierre Chanoine, Cornelius Boerkoel and 1 other authors

eP343: Long-read genome sequencing informs the molecular etiology of imprinting disorders

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Pierre K. Boerkoel

, Katherine Dixon, Carrie Fitzsimons, Yaoqing Shen, Stephanie Huynh, Kamilla Schlade‐Bartusiak, Luka Culibrk, Simon Chan, Cornelius F. Boerkoel

, Steven J. M. Jones, Hui‐Lin Chin

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

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2021 Hui‐Lin Chin

, Stephanie Huynh, Jahanshah Ashkani, Michael Castaldo, Katherine Dixon, Kathryn Selby, Yaoqing Shen, Marie Wright, Cornelius F. Boerkoel

, Glenda Hendson, Steven J. M. Jones

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

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Ashley Moller‐Hansen, Stephanie Huynh, Cornelius F. Boerkoel

, Hui‐Lin Chin

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease

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Hui‐Lin Chin

, Kieran O'Neill, Kristal Louie, Lindsay Brown, Kamilla Schlade‐Bartusiak, Patrice Eydoux, Rosemarie Rupps, Ali Farahani, Cornelius F. Boerkoel

, Steven J. M. Jones

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

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Distributing this paper is prohibited by the publisher

Sarah Ming Li Tan, Ching Ong, Kong Bing Tan, Hui-Lin Chin

, Prakash R. Paliwal, Kay Wei Ping Ng, Weiqin Lin

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging

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Julius O. B. Jacobsen, A. Zankl, Michael Baudis, Gareth S. Baynam, Jacques S. Beckmann, Sergi Beltran, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Robert R. Freimuth, Michael A. Gargano, Tudor Groza, R. Kaliyaperuma and 48 other authors

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

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2020 Youjia Zhong

, Hannah Eleanor Clapham, Ramkumar Aishworiya, Ying Xian Chua, Ying Xian Chua, Jancy Mathews

, Mabel Ong

, Jingji Wang, Belinda Murugasu, Wen Chin Chiang, Wen Chin Chiang, Bee Wah Lee, Bee Wah Lee, Hui-Lin Chin

Childhood vaccinations: hidden impact of COVID-19 on children in Singapore

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Neha S. Bhatia

, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Heming Wei, Breana Cham, Huilin Chin

, Celia Bosso-Lefevre, Perumal Dharuman, Nathalie Escande-Beillard, Arun George Devasia, Chew Yin Jasmine Goh, Sylvia Kam

, Wendy Kein-Meng Liew and 29 other authors

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

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Jeremy Lin

, Furene Wang

, Hui‐lin-L. Chin

, Velda Han

An infant with hair like fur of a teddy bear

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All papers authored by Hui-Lin Chin