Paediatrics

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Paediatrics

Lai Hwei Meeng Angeline

Clinical Associate Professor, SingHealth Duke-NUS Paediatrics Academic Clinical Programme

gmslhma@nus.edu.sg

About

Professional

Research Interests

Publications

Bio

Dr Angeline Lai is a Senior Consultant in the Genetics Service, Department of Paediatrics in KK Women’s and Children’s Hospital (KKH). She is Adjunct Associate Professor, Lee Kong Chian School of Medicine, and also serves as faculty in Duke-NUS Medical School, NUS Yong Loo Lin School of Medicine, and in the Singhealth Paediatrics Residency Program.

In her clinical practice, she manages children and adults with chromosomal and genetic conditions. She co-directs the BRIDGES (Bringing Research Initiatives for the Diagnosis of GEnetic diseases in Singapore) programme in KKH, which aims to apply new genomic technologies to improve diagnosis and management of patients with genetic conditions.

Education

Member, Royal Coll of Physicians

Royal College of Physicians, UK, United Kingdom

Bachelor of Medicine, Bachelor of Surgery

National University of Singapore, Singapore

NUS Appointment(s)

Clinical Senior Lecturer

Yong Loo Lin School of Medicine, National University of Singapore, Currently Active

Professional Appointment(s)

Service Chief, Paediatric and Obstetrics Genetics

SingHealth Duke-NUS Genomic Medicine Centre, Currently Active

Senior Consultant

Genetics Service, Department of Paediatrics, KK Women's And Children's Hospital, Currently Active

Adjunct Associate Professor

Lee Kong Chian School of Medicine, Currently Active

Membership

Member

Singapore Medical Association, Currently Active

Research Interests

Genetic causes of congenital anomalies

Genetic causes of intellectual disability

Translation of genomics research to improve patient care

Publications

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

American journal of human genetics – Gueneau Lucie; Fish Richard J; Shamseldin Hanan E; Voisin Norine; Tran Mau-Them Frédéric; Preiksaitiene Egle; Monroe Glen R; Lai Angeline; Putoux Audrey; Allias Fabienne; Ambusaidi Qamariya; Ambrozaityte Laima; Cimbalistienė Loreta; Delafontaine Julien; Guex Nicolas; Hashem Mais; Kurdi Wesam; Jamuar Saumya Shekhar; Ying Lim J; Bonnard Carine; Pippucci Tommaso; Pradervand Sylvain; Roechert Bernd; van Hasselt Peter M; Wiederkehr Michaël; Wright Caroline F; ; Xenarios Ioannis; van Haaften Gijs; Shaw-Smith Charles; Schindewolf Erica M; Neerman-Arbez Marguerite; Sanlaville Damien; Lesca Gaëtan; Guibaud Laurent; Reversade Bruno; Chelly Jamel; Kučinskas Vaidutis; Alkuraya Fowzan S; Reymond Alexandre (2018)

102 (1); 116-132

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

American journal of human genetics – Reijnders Margot R F; Zachariadis Vasilios; Latour Brooke; Jolly Lachlan; Mancini Grazia M; Pfundt Rolph; Wu Ka Man; van Ravenswaaij-Arts Conny M A; Veenstra-Knol Hermine E; Anderlid Britt-Marie M; Wood Stephen A; Cheung Sau Wai; Barnicoat Angela; Probst Frank; Magoulas Pilar; Brooks Alice S; Malmgren Helena; Harila-Saari Arja; Marcelis Carlo M; Vreeburg Maaike; Hobson Emma; Sutton V Reid; Stark Zornitza; Vogt Julie; Cooper Nicola; Lim Jiin Ying; Price Sue; Lai Angeline Hwei Meeng; Domingo Deepti; Reversade Bruno; ; Gecz Jozef; Gilissen Christian; Brunner Han G; Kini Usha; Roepman Ronald; Nordgren Ann; Kleefstra Tjitske (2016)

98 (2); 373-81

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Journal of medical genetics – Reijnders Margot R F; Janowski Robert; Alvi Mohsan; Self Jay E; van Essen Ton J; Vreeburg Maaike; Rouhl Rob P W; Stevens Servi J C; Stegmann Alexander P A; Schieving Jolanda; Pfundt Rolph; van Dijk Katinke; Smeets Eric; Stumpel Connie T R M; Bok Levinus A; Cobben Jan Maarten; Engelen Marc; Mansour Sahar; Whiteford Margo; Chandler Kate E; Douzgou Sofia; Cooper Nicola S; Tan Ene-Choo; Foo Roger; Lai Angeline H M; Rankin Julia; Green Andrew; Lönnqvist Tuula; Isohanni Pirjo; Williams Shelley; Ruhoy Ilene; Carvalho Karen S; Dowling James J; Lev Dorit L; Sterbova Katalin; Lassuthova Petra; Neupauerová Jana; Waugh Jeff L; Keros Sotirios; Clayton-Smith Jill; Smithson Sarah F; Brunner Han G; van Hoeckel Ceciel; Anderson Mel; Clowes Virginia E; Siu Victoria Mok; Ddd Study The; Selber Paulo; Leventer Richard J; Nellaker Christoffer; Niessing Dierk; Hunt David; Baralle Diana (2018)

55 (2); 104-113

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

American journal of human genetics – Bunn Kieran J; Daniel Phil; Rösken Heleen S; O'Neill Adam C; Cameron-Christie Sophia R; Morgan Tim; Brunner Han G; Lai Angeline; Kunst Henricus P M; Markie David M; Robertson Stephen P (2015)

96 (4); 623-30

An osteosclerotic form of Robinow syndrome.

American journal of medical genetics. Part A – Bunn Kieran J; Lai Angeline; Al-Ani Azza; Farella Mauro; Craw Susan; Robertson Stephen P (2014)

164A (10); 2638-42

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

American journal of human genetics – Nakajima Masahiro; Mizumoto Shuji; Miyake Noriko; Kogawa Ryo; Iida Aritoshi; Ito Hironori; Kitoh Hiroshi; Hirayama Aya; Mitsubuchi Hiroshi; Miyazaki Osamu; Kosaki Rika; Horikawa Reiko; Lai Angeline; Mendoza-Londono Roberto; Dupuis Lucie; Chitayat David; Howard Andrew; Leal Gabriela F; Cavalcanti Denise; Tsurusaki Yoshinori; Saitsu Hirotomo; Watanabe Shigehiko; Lausch Ekkehart; Unger Sheila; Bonafé Luisa; Ohashi Hirofumi; Superti-Furga Andrea; Matsumoto Naomichi; Sugahara Kazuyuki; Nishimura Gen; Ikegawa Shiro (2013)

92 (6); 927-34

SMN1 deletions among singaporean patients with spinal muscular atrophy.

Annals of the Academy of Medicine, Singapore – Lai A H M; Tan E S; Law H Y; Yoon C S; Ng I S L (2005)

34 (1); 73-7

Association of trisomy 18 with hepatoblastoma and its implications.

European journal of pediatrics – Tan Zhen Han; Lai Angeline; Chen Ching Kit; Chang Kenneth T E; Tan Ah Moy (2014)

173 (12); 1595-8

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.

Gene – Lai Angeline H M; Brett Maggie S; Chin Wai-Hoe; Lim Eileen C P; Ng Jasmine S H; Tan Ene-Choo (2012)

499 (1); 182-5

Intussusception: a three-year review.

Annals of the Academy of Medicine, Singapore – Lai A H M; Phua K B; Teo E L H J; Jacobsen A S (2002)

31 (1); 81-5

Paediatrics

Bio

Education

Member, Royal Coll of Physicians

Bachelor of Medicine, Bachelor of Surgery

NUS Appointment(s)

Clinical Senior Lecturer

Professional Appointment(s)

Service Chief, Paediatric and Obstetrics Genetics

Senior Consultant

Adjunct Associate Professor

Membership

Member

Research Interests

Publications

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

An osteosclerotic form of Robinow syndrome.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

SMN1 deletions among singaporean patients with spinal muscular atrophy.

Association of trisomy 18 with hepatoblastoma and its implications.

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.

Intussusception: a three-year review.

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