Alvin J. Ng

Singapore, 138673, Singapore

Last Updated: 09/26/2026

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Found 16 publications

Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.

Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.

Journal: Molecular genetics & genomic medicine
Published: May 28, 2024

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 11, 2022

Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Journal: BMC cancer
Published: November 25, 2021

Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.

Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.

Journal: Brain pathology (Zurich, Switzerland)
Published: September 16, 2021

Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study.

Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study.

Journal: Journal of clinical medicine
Published: May 03, 2021

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Journal: American journal of medical genetics. Part A
Published: February 28, 2020

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Journal: The Journal of experimental medicine
Published: August 21, 2019

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

Journal: Bone
Published: August 29, 2018

Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma.

Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma.

Journal: Blood cancer journal
Published: June 26, 2018

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Journal: BMC medical genetics
Published: April 22, 2018

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Journal: Nature communications
Published: September 20, 2017

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
Showing 1-12 of 16

Last Updated: 09/26/2026