List of works - Laurent Pasquier

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

scientific article

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

scientific article published on 25 April 2024

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

scientific article published on 10 April 2018

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome

scientific article published on 07 May 2020

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Population genetic screening: current issues in a European country

scientific article published on 08 May 2019

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

scientific article

Searching for secondary findings: considering actionability and preserving the right not to know

scientific article published on 11 June 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

scientific article

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

scientific article published on 14 July 2017

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases.

scientific article published on 25 March 2018

List of works by Laurent Pasquier

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

New insights into genotype-phenotype correlation for GLI3 mutations

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Population genetic screening: current issues in a European country

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

Searching for secondary findings: considering actionability and preserving the right not to know

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases.