Publications by authors named "Kit Yeung"

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Developing a Behavioral Phenotyping Layer for Artificial Intelligence-Driven Predictive Analytics in a Digital Resiliency Course: Protocol for a Randomized Controlled Trial.
Trevor van Mierlo, Rachel Fournier, Siu Kit Yeung, Sofiia Lahutina

JMIR Res Protoc· August 2025

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Engineering an autonomous VH domain to modulate intracellular pathways and to interrogate the eIF4F complex.
Yuri Frosi, Yen-Chu Lin, Jiang Shimin, Siti Radhiah Ramlan, Kelly Hew, Kit Yeung

Nat Commun· August 2022

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Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.
Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Kit San Yeung

Front Genet· August 2022

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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Kit San Yeung

NPJ Genom Med· March 2022

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Comparison of EUS-guided choledochoduodenostomy and percutaneous drainage for distal biliary obstruction: A multicenter cohort study.
Tarek Sawas, Natashay J Bailey, Kit Ying Kitty Au Yeung, Theodore W James, Sumana Reddy

Endosc Ultrasound· January 2022

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Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
Mullin Ho Chung Yu, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Mandy Ho Yin Tsang, Kit San Yeung

J Hum Genet· June 2021

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Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Mimi Tin-Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, Kelvin Yuen-Kwong Chan, Kit San Yeung

Am J Med Genet A· February 2021

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Mullin Ho Chung Yu, Marcus Chun Yin Chan, Claudia Ching Yan Chung, Andrew Wang Tat Li, Chara Yin Wa Yip, Kit San Yeung

PLoS Genet· February 2021

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Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.
Mullin Ho Chung Yu, Jeffrey Fong Ting Chau, Sandy Leung Kuen Au, Hei Man Lo, Kit San Yeung

Front Genet· January 2021

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Monoallelic Mutations in Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Alvin Chun Hang Ma, Christopher Chun Yu Mak, Kit San Yeung, Steven Lim Cho Pei, Dingge Ying

Circ Genom Precis Med· December 2020

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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Kit San Yeung

NPJ Genom Med· September 2020

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Claudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Mianne Lee, Kit San Yeung

Lancet Reg Health West Pac· August 2020

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The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Kit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, Sheila Wong, Hencher H C Lee

Mol Genet Genomic Med· July 2020

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Coexistence of paternally-inherited mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Joanna Yuet-Ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, Kit San Yeung, Anita Sik Yau Kan

Int J Pediatr Endocrinol· July 2020

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A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.
Brooke R Willis, Mianne Lee, Kavitha Rethanavelu, Jasmine L F Fung, Rosanna M S Wong, Kit S Yeung

Am J Med Genet A· June 2020

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Rare SUZ12 variants commonly cause an overgrowth phenotype.
Sharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, Kit S Yeung

Am J Med Genet C Semin Med Genet· December 2019

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A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Jasmine L F Fung, Mandy H Y Tsang, Gordon K C Leung, Kit San Yeung, Christopher C Y Mak

Parkinsonism Relat Disord· June 2019

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Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus.
Kit San Yeung, Tsz Leung Lee, Mo Yin Mok, Christopher Chun Yu Mak, Wanling Yang

Epigenetics· April 2019

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Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Kit San Yeung, Matthew Sai Pong Ho, So Lun Lee, Anita Sik Yau Kan, Kelvin Yuen Kwong Chan

J Med Genet· December 2018

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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Christopher Cy Mak, Gordon Kc Leung, Gary Tk Mok, Kit San Yeung, Wanling Yang

NPJ Genom Med· August 2018

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Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung

Mol Autism· July 2018

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Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway.
Kit San Yeung, Brian Hon-Yin Chung, Sanaa Choufani, Mo Yin Mok, Wai Lap Wong

PLoS One· August 2017

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Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Kit San Yeung, Janice Jing Kun Ip, Chin Pang Chow, Evelyn Yue Ling Kuong, Paul Kwong-Hang Tam

Am J Med Genet A· April 2017

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large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
Christopher C Y Mak, Pak Cheong Chow, Anthony P Y Liu, Kelvin Y K Chan, Yoyo W Y Chu, Kit San Yeung

NPJ Genom Med· September 2016

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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Ghayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, Carleton Goold, Laura A Jansen, Kit San Yeung

JAMA Neurol· July 2016

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