List of works - Patrick Edery

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

scientific article

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

scientific article published on 29 October 2008

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

scientific article published on 24 December 2013

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

scientific article

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

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

scientific article

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

scientific article

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

scientific article

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

scientific article published on 27 September 2017

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

scientific article published on 11 December 2014

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma

scientific article

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer?

scientific article published on October 2012

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

scientific article published on 6 June 2009

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives

scientific article published on 16 July 2019

ELLIPSE Study: a Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia

scientific article

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

scientific article published on 27 June 2012

Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome

scientific article

Functional variants of POC5 identified in patients with idiopathic scoliosis

scientific article

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

scientific article published on 18 January 2013

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

scientific article published on 19 June 2008

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

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients

scientific article (publication date: 15 July 2003)

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

scientific article published on 8 February 2017

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases

scientific article published on 25 July 2007

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

scientific article published on 12 November 2019

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis

scientific article published on 7 March 2013

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

scientific article published on 11 December 2014

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

scientific article published on 2 February 2017

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

scientific article

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

scientific article

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

scientific article

New disease gene location and high genetic heterogeneity in idiopathic scoliosis.

scientific article

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

scientific article published on 07 June 2019

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

scientific article

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region

scientific article

Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.

scientific article published on 20 December 2012

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

scientific article

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

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

scientific article published on 10 April 2013

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

scientific article published on 17 September 2013

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

scientific article

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

scientific article published on 21 October 2015

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

scientific article published on 23 April 2015

ZEB2, a new candidate gene for asplenia

scientific article published on 8 January 2014

List of works by Patrick Edery

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

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

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer?

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives

ELLIPSE Study: a Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome

Functional variants of POC5 identified in patients with idiopathic scoliosis

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

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

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients

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

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

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

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

New disease gene location and high genetic heterogeneity in idiopathic scoliosis.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region

Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

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

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

ZEB2, a new candidate gene for asplenia