List of works - Laurence Faivre

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

scientific article

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

scientific article

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

scientific article published on 25 June 2015

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

scientific article published on 23 September 2015

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

scientific article

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

scientific article

Angelman syndrome: a case series assessing neurological issues in adulthood

scientific article published on 29 November 2014

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

scientific article published on 27 September 2020

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

scientific article

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

scientific article published on 20 December 2016

C5orf42 is the major gene responsible for OFD syndrome type VI.

scientific article published on November 2013

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

scientific article

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

scientific article (publication date: December 2003)

Cohen syndrome is associated with major glycosylation defects

scientific article

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review

scientific article published on 04 October 2013

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

scientific article published on 21 March 2013

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

scientific article

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

scientific article published on 20 April 2016

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

scientific article published on 13 March 2017

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

scientific article published on February 2009

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

scientific article

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

scientific article

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

scientific article published on 21 October 2015

High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries

scientific article (publication date: April 2006)

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

scientific article (publication date: April 2002)

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

scientific article published on 10 September 2015

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

scientific article

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

scientific article published on 29 October 2010

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

scientific article

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

scientific article

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

scientific article

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

scientific article published on 7 December 2015

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

scientific article published on 27 June 2013

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

scientific article

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

scientific article published on 11 August 2017

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability ⬇️

scientific article published on November 28, 2011

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

scientific article published on 24 January 2017

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

scientific article published on August 2010

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

scientific article published on 07 March 2019

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

scientific article published on 27 December 2020

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

scientific article

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

scientific article published on 09 May 2016

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

scientific article

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

scientific article

List of works by Laurence Faivre

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

Angelman syndrome: a case series assessing neurological issues in adulthood

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

C5orf42 is the major gene responsible for OFD syndrome type VI.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

Cohen syndrome is associated with major glycosylation defects

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

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

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability ⬇️

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

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

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis