Publications by authors named "Lam Son Nguyen"

15Publications

Role of in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.

Mol Autism 2018 19;9:38. Epub 2018 Jun 19.

1INSERM UMR 1163, Laboratory of Molecular and pathophysiological bases of cognitive disorders, Imagine Institute, Necker-Enfants Malades Hospital, 24 Boulevard du Montparnasse, 75015 Paris, France.

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October 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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June 2018

The emerging roles of MicroRNAs in autism spectrum disorders.

Neurosci Biobehav Rev 2016 Dec 25;71:729-738. Epub 2016 Oct 25.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, 24 Boulevard du Montparnasse, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, 12 Rue de l'École de Médecine, 75006 Paris, France. Electronic address:

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December 2016

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

Mol Autism 2016 8;7. Epub 2016 Jan 8.

INSERM UMR 1163, Laboratory of Molecular and pathophysiological bases of cognitive disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, 24 boulevard du Montparnasse, 75015 Paris, France.

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April 2016

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

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

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March 2016

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

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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June 2015

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

Am J Hum Genet 2014 Mar;94(3):470-8

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5005, Australia; Robinson Institute, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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March 2014

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

Neurosci Biobehav Rev 2014 Oct 14;46 Pt 2:175-86. Epub 2013 Nov 14.

School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5006, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5006, Australia. Electronic address:

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October 2014

Rare copy number variation in cerebral palsy.

Eur J Hum Genet 2014 Jan 22;22(1):40-5. Epub 2013 May 22.

Robinson Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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January 2014

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

Eur J Med Genet 2012 Aug-Sep;55(8-9):476-9. Epub 2012 Apr 25.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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November 2012

A UPF3-mediated regulatory switch that maintains RNA surveillance.

Nat Struct Mol Biol 2009 Jul 7;16(7):747-53. Epub 2009 Jun 7.

Department of Biochemistry and Molecular Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA.

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July 2009