Maggie S. Brett

Singapore, Singapore

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

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

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

Journal: European journal of human genetics : EJHG

Published: February 02, 2021

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

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

Journal: Archives of disease in childhood

Published: March 19, 2020

Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.

Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.

Journal: Archives of disease in childhood

Published: March 17, 2020

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

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

Journal: Clinical dysmorphology

Published: December 04, 2018

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Journal: JAAD case reports

Published: April 26, 2018

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

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

Journal: European journal of medical genetics

Published: June 30, 2017

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

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

Journal: Journal of human genetics

Published: November 25, 2016

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

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

Journal: American journal of medical genetics. Part A

Published: August 03, 2016

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Journal: American journal of human genetics

Published: March 03, 2016

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Journal: EBioMedicine

Published: November 26, 2015

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

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

Journal: Clinical dysmorphology

Published: October 30, 2015

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

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

Journal: Human genomics

Published: September 08, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026