A. Lai

发表

Left Ventricular Non-compaction: Is It Genetic?

S. Jamuar, E. Tan, J. Choo, 2015, Pediatric Cardiology.

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

S. Jamuar, E. Tan, M. Brett, 2019, Molecular genetics & genomic medicine.

Williams–Beuren syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, A. Adeyemo, 2018, American journal of medical genetics. Part A.

Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series

T. Tan, J. Choo, T. Ting, 2014, European Journal of Pediatrics.

Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy.

K. Y. Wong, T. Tan, J. Choo, 2009, Singapore medical journal.

University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

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

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

S. Rozen, E. Tan, P. Tan, 2014, PloS one.

Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context

S. Jamuar, E. Tan, W. K. Lim, 2021 .

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients

S. Jamuar, E. Tan, Heming Wei, 2020, American journal of medical genetics. Part A.

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

E. Tan, M. Brett, A. Lai, 2012, Gene.

Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene

E. Tan, Heming Wei, T. Ting, 2020, Journal of the Neurological Sciences.

Use of deferiprone for iron chelation in patients with transfusion‐dependent thalassaemia

S. Jamuar, A. Tan, E. Tan, 2011, Journal of paediatrics and child health.

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.

E. Tan, M. Brett, A. Lai, 2013, Gene.

SMN1 deletions among singaporean patients with spinal muscular atrophy.

H. Law, A. Lai, I. Ng, 2005, Annals of the Academy of Medicine, Singapore.

DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.

S. Jamuar, E. Tan, T. Ting, 2016, Clinical dysmorphology.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

S. Jamuar, E. Tan, J. Choo, 2019, Clinical dysmorphology.

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

N. Guex, A. Reymond, I. Xenarios, 2017, American journal of human genetics.

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

S. Jamuar, E. Tan, M. Brett, 2015, Human Genomics.

Congenital perineal lipoma associated with bilateral undescended testes and anorectal malformation

A. Lai, L. Chiang, C. Ong, 2020 .

Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation

R. Foo, S. Jamuar, E. Tan, 2017, American journal of medical genetics. Part A.

Association of trisomy 18 with hepatoblastoma and its implications

A. Tan, K. Chang, A. Lai, 2014, European Journal of Pediatrics.

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

S. Robertson, H. Brunner, D. Markie, 2015, American journal of human genetics.

Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event

E. Tan, M. Brett, A. Lai, 2017, Journal of Human Genetics.

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

B. Venkatesh, Kanika Jain, S. Jamuar, 2020, Archives of Disease in Childhood.

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

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

B. Venkatesh, E. Valente, E. Tan, 2018, European journal of medical genetics.

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

E. Tan, T. Ting, E. Tan, 2020, Gene.

Intussusception: a three-year review.

A. Lai, A. Jacobsen, E. Teo, 2002, Annals of the Academy of Medicine, Singapore.

An osteosclerotic form of Robinow syndrome

S. Robertson, S. Craw, M. Farella, 2014, American journal of medical genetics. Part A.

Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia

S. Jamuar, A. Lai, 2012, Therapeutic advances in hematology.

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Asif Javed, Y. Teo, B. Venkatesh, 2016, EBioMedicine.

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

D. Chitayat, N. Matsumoto, Hironori Ito, 2013, American journal of human genetics.

Clinical and radiological findings in Pallister-Killian syndrome.

S. Jamuar, G. Nishimura, S. Unger, 2012, European journal of medical genetics.

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

A. Reymond, G. Lesca, L. Gueneau, 2019, Prenatal diagnosis.

Cytogenomic Delineation and Clinical Characterization of Three Cases of MECP2 Duplication Syndrome

J. Ha, E. Tan, S. Ling, 2015 .

End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation

M. Foo, C. Lim, A. Lai, 2014, International Urology and Nephrology.

Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes.

L. Hartley, C. Lim, T. Thomas, 2021, European journal of paediatric neurology.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

E. Tan, G. Mochida, M. Al-Saffar, 2021, European Journal of Human Genetics.

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation

E. Tan, M. Brett, A. Lai, 2022, American journal of medical genetics. Part A.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

Incidental finding of an aortic aneurysm in a paediatric patient with tuberous sclerosis - A case report with literature review

S. Chowdhury, A. Lai, C. Y. Ting, 2023, Proceedings of Singapore Healthcare.