Publications by authors named "Angeline H M Lai"

16Publications

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

Am J Med Genet A 2020 10 17;182(10):2461-2465. Epub 2020 Aug 17.

Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.61798DOI Listing
October 2020

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

J Neurol Sci 2020 Jul 4;414:116819. Epub 2020 Apr 4.

Research Laboratory, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116819DOI Listing
July 2020

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

Gene 2020 Mar 11;731:144360. Epub 2020 Jan 11.

Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144360DOI Listing
March 2020

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

Prenat Diagn 2020 01 5;40(2):276-281. Epub 2019 Dec 5.

Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.

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http://dx.doi.org/10.1002/pd.5589DOI Listing
January 2020

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

Mol Genet Genomic Med 2019 04 19;7(4):e00581. Epub 2019 Feb 19.

Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore.

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http://dx.doi.org/10.1002/mgg3.581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465663PMC
April 2019

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

J Hum Genet 2017 Jul 23;62(7):711-715. Epub 2017 Mar 23.

KK Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1038/jhg.2017.32DOI Listing
July 2017

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

Am J Med Genet A 2017 02 19;173(2):550-552. Epub 2016 Oct 19.

Research Laboratory, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.38026DOI Listing
February 2017

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

Hum Genomics 2015 Dec 14;9:33. Epub 2015 Dec 14.

KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.

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http://dx.doi.org/10.1186/s40246-015-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678573PMC
December 2015

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

Clin Dysmorphol 2016 Jan;25(1):37-40

aDepartment of Paediatrics bKK Research Centre cDNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital dPaediatric Academic Clinical Programme, Singhealth Duke-NUS Graduate School of Medicine, Singapore, Singapore.

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http://pdfs.journals.lww.com/clindysmorphol/2016/01000/DICER
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000105DOI Listing
January 2016

Asymptomatic proteinuria, renal cysts and dorsal pancreas agenesis.

Clin Kidney J 2014 Aug 23;7(4):411-2. Epub 2014 Jun 23.

Department of Renal Medicine , Singapore General Hospital , Singapore.

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http://dx.doi.org/10.1093/ckj/sfu066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377811PMC
August 2014

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

Int Urol Nephrol 2014 Sep 16;46(9):1869-70. Epub 2014 May 16.

Department of Renal Medicine, Singapore General Hospital, Level 3 Academia, 1 Hospital Drive, Outram Road, Singapore, 169608, Singapore,

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http://dx.doi.org/10.1007/s11255-014-0735-9DOI Listing
September 2014

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

Ther Adv Hematol 2012 Oct;3(5):299-307

Division of Genetics, 300 Longwood Avenue, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/2040620712450252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627318PMC
October 2012

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

Gene 2012 May 9;499(1):182-5. Epub 2012 Mar 9.

Genetics Service, KK Women's and Children's Hospital, Republic of Singapore.

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http://dx.doi.org/10.1016/j.gene.2012.02.043DOI Listing
May 2012

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.

Clin Dysmorphol 2008 Jan;17(1):73-4

Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1097/MCD.0b013e3282efdaf1DOI Listing
January 2008