Publications by authors named "Angeline Lai"

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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in diagnostic challenges with NGS.
Harshini Hariram, Khadijah Rafi'ee, Jiin Ying Lim, Sylvia Kam, Sunny Yu Shen, Angeline Lai

BMJ Case Rep· August 2025

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Case of de-novo variant in CDH2 with novel findings: a case report and review of literature.
Afiqah Binte Abdul Rahman, Jeannette Goh, Shermaine Chan, Sylvia Kam, Jonathan Tze Liang Choo, Angeline Hwei Meeng Lai

Clin Dysmorphol· July 2025

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National Thalassemia Registry: a 30 year journey of implementing carrier screening in Singapore.
Stella Zhang, Guek Peng Tan, Soh Lan Peh, Swee Lim Ang, Sylvia Kam, Angeline Lai

Lancet Reg Health West Pac· February 2025

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Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.
Sandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, Jonathan Choo, Cristelle Chow, Angeline Hwei Meeng Lai

Clin Dysmorphol· October 2024

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Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Jeannette Goh, Heming Wei, Angeline H M Lai, Benjamin Chang, Shazia Khan

Clin Dysmorphol· April 2024

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Cardiovascular Outcomes in Acute Coronary Syndrome and Malnutrition: A Meta-Analysis of Nutritional Assessment Tools.
Angeline Rx Lai, Manish Warrier, Ethel Zx Ng, Chaoxing Lin, Yip Han Chin, Haoxing Lai

JACC Adv· October 2023

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Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.
Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim

J Pediatr Genet· June 2023

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Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.
Ene-Choo Tan, Angeline H M Lai, Maggie S Y Brett

Am J Med Genet A· July 2022

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Angeline H M Lai, Laila Bastaki

Eur J Hum Genet· November 2021

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Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes.
Pravin Rr, Catherine Douch, Mark Jean Aan Koh, Angeline H M Lai, Cc Tchoyoson Lim

Eur J Paediatr Neurol· July 2021

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Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Neha S Bhatia, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Poh San Lai, Angeline Lai

Arch Dis Child· January 2021

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Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.
Heming Wei, Angeline Lai, Ee Shien Tan, Mark Jean Aan Koh, Ivy Ng

Arch Dis Child· January 2021

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Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
Heming Wei, Ee-Shien Tan, Saumya Jamuar, Angeline H M Lai, Ivy Ng

Am J Med Genet A· October 2020

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Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.
Sophie Lian, Teck Wah Ting, Angeline H M Lai, Ee-Shien Tan, Heming Wei

J Neurol Sci· July 2020

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Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Chui-Sun Yap, Saumya Shekhar Jamuar, Angeline H M Lai, Ee-Shien Tan, Ivy Ng

Gene· March 2020

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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Sara Cabet, Audrey Putoux, Annie Buenerd, Lucie Gueneau, Alexandre Reymond, Angeline H M Lai

Prenat Diagn· January 2020

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Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype.
Yi-Rong Chew, Jiin-Ying Lim, Oon-Hoe Teoh, Ching-Kit Chen, Roger Foo, Angeline Hm Lai

Clin Dysmorphol· July 2019

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The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Ai-Ling Koh, Ee-Shien Tan, Maggie S Brett, Angeline H M Lai, Saumya Shekhar Jamuar

Mol Genet Genomic Med· April 2019

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Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.
Neha S Bhatia, Jiin-Ying Lim, Maggie S Brett, Ene-Choo Tan, Hai Yang Law, Angeline H M Lai

Clin Dysmorphol· January 2019

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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, Alvin Yu Jin Ng, Sumanty Tohari, Angeline Lai

Eur J Med Genet· October 2018

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Williams-Beuren syndrome in diverse populations.
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Laila Bouguenouch, Angeline Lai

Am J Med Genet A· May 2018

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Angeline H M Lai

J Med Genet· February 2018

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Angeline Lai, Laima Ambrozaityte

Am J Hum Genet· January 2018

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Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan

J Hum Genet· July 2017

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Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.
Maggie Brett, Angeline H M Lai, Teck-Wah Ting, Ah-Moy Tan, Roger Foo

Am J Med Genet A· February 2017

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