Author details

Full Name

Hui-Lin Chin

Affiliation

Yong Loo Lin School of Medicine, National University of Singapore

ORCID

Career Start Year

2015

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37740604	Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.	Mol Genet Genomic Med	2024
36714130	The practice of genomic medicine: A delineation of the process and its governing principles.	Front Med (Lausanne)	2023
37422302	Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene.	Lancet	2023
36722517	Pitfalls in clinical genetics.	Singapore Med J	2023
34558799	Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.	Am J Med Genet A	2022
35442193	The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.	Genet Med	2022
36468525	An infant with hair like fur of a teddy bear.	J Paediatr Child Health	2022
36313509	Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.	Front Neurol	2022
35122461	Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.	Am J Med Genet A	2022
35063693	Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?	Eur J Med Genet	2022
34825470	An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?	Am J Med Genet A	2022
32819910	Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.	Arch Dis Child	2021
33518658	Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.	Int Heart J	2021
34018669	An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.	Am J Med Genet A	2021
33414050	Childhood vaccinations: Hidden impact of COVID-19 on children in Singapore.	Vaccine	2021
32045119	An infant with hair like fur of a teddy bear.	J Paediatr Child Health	2020
29668551	Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease.	J Pediatr Hematol Oncol	2019
31529142	A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.	J Mol Med (Berl)	2019
28074087	The genetic variation rs6903956 in the novel androgen-dependent tissue factor pathway inhibitor regulating protein (<i>ADTRP</i>) gene is not associated with levels of plasma coagulation factors in the Singaporean Chinese.	Thromb J	2017
26937410	Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease.	Mol Genet Metab Rep	2015

1 - 20 of 20

Casie A Genetti

Boston Children's Hospital

Career Start Year 2015

Number of shared co-authors 2

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 0

Laure Raymond

Sorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS

Career Start Year 2013

Number of shared co-authors 0

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 1

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 5

Monica H Wojcik

Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 3

Shagun Aggarwal

Nizam's Institute of Medical Sciences

Career Start Year 2010

Number of shared co-authors 2

Ammar Husami

Cincinnati Children's Hospital Medical Center

Career Start Year 2010

Number of shared co-authors 4

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 0

David Dimmock

Rady Children's Institute for Genomic Medicine

Career Start Year 2007

Number of shared co-authors 1

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 8

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 2

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 5

Kati J Buckingham

University of Washington

Career Start Year 2005

Number of shared co-authors 0

Julie Richer

University of Ottawa, Canada Children's Hospital of Eastern Ontario

Career Start Year 2005

Number of shared co-authors 1

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 2

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 3

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 0

Zornitza Stark

Murdoch Children's Research Institute

Career Start Year 2001

Number of shared co-authors 5

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 3

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 2

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 0

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 9

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 4

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 2

Ada Hamosh

Johns Hopkins University School of Medicine

Career Start Year 1991

Number of shared co-authors 7

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 8

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 2

David Bick

Genomics England Ltd.

Career Start Year 1987

Number of shared co-authors 0

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 5

row(s) 1 - 30 of 30

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 7

Steven J M Jones

University of British Columbia

Co-authored papers 3

Leah M Prentice

British Columbia Women's Hospital and Health Centre

Co-authored papers 2

Linlea Armstrong

University of British Columbia

Co-authored papers 2

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Co-authored papers 2

Lorne Clarke

University of British Columbia

Co-authored papers 2

Nour Gazzaz

University of British Columbia

Co-authored papers 2

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Lynn Warnock

Women's Hospital of British Columbia

Co-authored papers 1

Pierre Boerkoel

University of British Columbia

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Iulia Handra

The University of British Columbia, Women's Hospital of British Columbia