List of works - Frédéric Laumonnier

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

scientific article published on 9 April 2013

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

scientific article published in October 2009

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

scientific article

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

scientific article published in January 2018

Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosis.

scientific article

Association of a Functional Deficit of the BK Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation

article published in 2006

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

scientific article published on 9 July 2009

Autism, genetics and synaptic function alterations

scientific article published on 23 February 2010

Could autism with mental retardation result from digenism and frequent de novo mutations?

scientific article published on January 2009

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

scientific article published on 14 December 2015

FG syndrome: The FGS2 locus revisited

scientific article published on 23 April 2012

From mental retardation to autism: common aspects, common genes

article

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

scientific article

GC-MS-based urine metabolic profiling of autism spectrum disorders.

scientific article published on 10 April 2013

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

scientific article

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

scientific article published on 08 January 2021

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

scientific article published on 29 June 2019

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

scientific article published on 27 December 2018

LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain

scientific article published on 3 March 2012

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

scientific article published on 11 September 2015

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

scientific article

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

scientific article published on 03 May 2021

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

scientific article published on 29 July 2019

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

scientific article

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

scientific article

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule

scientific article

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

scientific article published on 27 October 2020

The role of neuronal complexes in human X-linked brain diseases

scientific article

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

scientific article

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

scientific article published on 30 June 2018

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families

scientific article published on 11 January 2013

List of works by Frédéric Laumonnier

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosis.

Association of a Functional Deficit of the BK Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

Autism, genetics and synaptic function alterations

Could autism with mental retardation result from digenism and frequent de novo mutations?

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

FG syndrome: The FGS2 locus revisited

From mental retardation to autism: common aspects, common genes

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

GC-MS-based urine metabolic profiling of autism spectrum disorders.

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

The role of neuronal complexes in human X-linked brain diseases

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

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability