List of works - Cédric Le Caignec

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

scientific article

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome

scientific article

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

scientific article published on 20 March 2014

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

scientific article

Autosomal insertional translocation mimicking an X-linked mode of inheritance ⬇️

scientific article published on October 26, 2012

Barth syndrome in a female patient

scientific article

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

scientific article published on November 2013

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

scientific article

Copy number variation goes clinical

scientific article published on 23 January 2009

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

scientific article

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

scientific article

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

scientific article published on October 2014

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 aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

scientific article

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

scientific article

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

scientific article

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

scientific article

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

scientific article

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

scientific article

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

scientific article published on 7 December 2015

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

scientific article published on 10 November 2015

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

scientific article

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

scientific article

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

scientific article

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci ⬇️

scientific article published on March 15, 2011

Whole-genome multiple displacement amplification from single cells

scientific article

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

scientific article

List of works by Cédric Le Caignec

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

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Autosomal insertional translocation mimicking an X-linked mode of inheritance ⬇️

Barth syndrome in a female patient

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

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

Copy number variation goes clinical

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

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

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

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

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

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

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci ⬇️

Whole-genome multiple displacement amplification from single cells

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas