Publications by authors named "Angeline Lai"

37Publications

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

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

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

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

EBioMedicine 2016 Mar 4;5:211-6. Epub 2016 Feb 4.

Genome Institute of Singapore, ASTAR, Singapore; Cardiovascular Research Institute, National University of Singapore, National University Health System, Singapore.

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http://dx.doi.org/10.1016/j.ebiom.2016.01.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816806PMC
March 2016

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

Left Ventricular Non-compaction: Is It Genetic?

Pediatr Cardiol 2015 Dec 25;36(8):1565-72. Epub 2015 Jun 25.

Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.

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http://dx.doi.org/10.1007/s00246-015-1222-5DOI Listing
December 2015

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

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Am J Hum Genet 2015 Apr 26;96(4):623-30. Epub 2015 Mar 26.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385193PMC
April 2015

An osteosclerotic form of Robinow syndrome.

Am J Med Genet A 2014 Oct 14;164A(10):2638-42. Epub 2014 Jul 14.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.36677DOI Listing
October 2014

Haemoglobin E-beta Thalassaemia in Singapore.

Ann Acad Med Singap 2014 Jun;43(6):331-3

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

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June 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

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

Eur J Pediatr 2014 Mar 22;173(3):387-91. Epub 2013 Oct 22.

Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore,

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http://dx.doi.org/10.1007/s00431-013-2187-0DOI Listing
March 2014

Association of trisomy 18 with hepatoblastoma and its implications.

Eur J Pediatr 2014 Dec 23;173(12):1595-8. Epub 2013 Aug 23.

Department of Pediatric Medicine, KK Women's and Children's, Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore,

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http://dx.doi.org/10.1007/s00431-013-2147-8DOI Listing
December 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

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

Gene 2013 Mar 11;517(1):82-8. Epub 2013 Jan 11.

KK Research Centre, KK Women's & Children's Hospital, Singapore.

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http://dx.doi.org/10.1016/j.gene.2012.12.082DOI Listing
March 2013

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

Clinical and radiological findings in Pallister-Killian syndrome.

Eur J Med Genet 2012 Mar 10;55(3):167-72. Epub 2012 Feb 10.

Genetics Service, Department of Paediatric Medicine, KK Hospital, Singapore.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.019DOI Listing
March 2012

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

J Paediatr Child Health 2011 Nov 9;47(11):812-7. Epub 2011 Sep 9.

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

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http://dx.doi.org/10.1111/j.1440-1754.2011.02031.xDOI Listing
November 2011

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