Jyn Ling Kuan
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View article: Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production Open
View article: Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy
Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy Open
A significant proportion of adult-onset neurological disorders remain diagnostic odysseys despite extensive evaluation. Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL) is an autosomal recessive disorder…
View article: Analysis of clinically relevant variants from ancestrally diverse Asian genomes
Analysis of clinically relevant variants from ancestrally diverse Asian genomes Open
View article: MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report Open
Introduction Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorde…
View article: Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause Open
View article: Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era
Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era Open
View article: Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2) Open
Most aldosterone-producing adenomas (APA) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell-clusters of normal adrenals suggests the existence of co-driver mutat…
View article: Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context
Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context Open
Objective: Use rapid next-generation sequencing (NGS) to improve our diagnostic yield in critically ill paediatric patients with suspected genetic disorders in the Asian setting. Design: A diagnostic study conducted between April 2018 and …
View article: Family history assessment significantly enhances delivery of precision medicine in the genomics era
Family history assessment significantly enhances delivery of precision medicine in the genomics era Open
Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs re…
View article: Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era
Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era Open
Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs, w…
View article: Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore Open
View article: Genetic Mosaicism in Calmodulinopathy
Genetic Mosaicism in Calmodulinopathy Open
Background: CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with …
View article: Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders
Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders Open
View article: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders Open
View article: Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? Open