List of works - Lam S Nguyen

A UPF3-mediated regulatory switch that maintains RNA surveillance

scientific article published on 7 June 2009

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

scientific article published on 8 July 2015

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay

scientific article published on 25 April 2012

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

scientific article

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

scientific article

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability

scientific article published on 04 September 2018

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

scientific article

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

scientific journal article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

scientific article

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

Nonsense-mediated mRNA decay: inter-individual variability and human disease

scientific article

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

scientific article

Rare copy number variation in cerebral palsy

scientific article published on 22 May 2013

The emerging roles of MicroRNAs in autism spectrum disorders

scientific article published on 25 October 2016

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

scientific article

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

scientific article published on 10 February 2015

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

scientific article

List of works by Lam S Nguyen

A UPF3-mediated regulatory switch that maintains RNA surveillance

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Nonsense-mediated mRNA decay: inter-individual variability and human disease

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Rare copy number variation in cerebral palsy

The emerging roles of MicroRNAs in autism spectrum disorders

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity