List of works - Joris Andrieux

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

scientific article

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

scientific article

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

scientific article

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

scientific article

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

scientific article

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

scientific article published in The Lancet

Bone morphogenetic protein antagonist gene NOG is involved in myeloproliferative disease associated with myelofibrosis

scientific article

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

scientific article published on 12 October 2012

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

scientific article published on July 2013

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

scientific article

Clinical utility gene card for: 16p13.11 microdeletion syndrome

scientific article published on 9 October 2013

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies

scientific article published on October 2009

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

scientific article published on 12 April 2012

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

scientific article published on 2 December 2015

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

scientific article published on 14 January 2008

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

scientific article

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

scientific article published on 13 February 2013

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

scientific article

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

scientific article published on 16 October 2013

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

Extended spectrum of MBD5 mutations in neurodevelopmental disorders ⬇️

scientific article published on February 20, 2013

FOXP1-related intellectual disability syndrome: a recognisable entity

scientific article

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 and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

scientific article

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

scientific article published on 29 May 2013

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

scientific article

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

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

scientific article published on 5 November 2014

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

scientific article

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

scientific article

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

scientific article published on 6 April 2015

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

scientific article

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

scientific article

On the role of FAN1 in Fanconi anemia

scientific article

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

scientific article published on 01 February 2009

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

scientific article

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

scientific article published on 25 August 2016

TPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphoma

scientific article

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

scientific article

The PI3K/AKT signaling pathway controls the quiescence of the low-Rhodamine123-retention cell compartment enriched for melanoma stem cell activity.

scientific article published on April 2013

The clinical significance of small copy number variants in neurodevelopmental disorders

scientific article

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

scientific article published on 18 March 2015

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

scientific article published on June 20, 2013

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

scientific article

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

scientific article published on June 2017

List of works by Joris Andrieux

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

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

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

Bone morphogenetic protein antagonist gene NOG is involved in myeloproliferative disease associated with myelofibrosis

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Clinical utility gene card for: 16p13.11 microdeletion syndrome

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Extended spectrum of MBD5 mutations in neurodevelopmental disorders ⬇️

FOXP1-related intellectual disability syndrome: a recognisable entity

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

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

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

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

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

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

On the role of FAN1 in Fanconi anemia

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

TPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphoma

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

The PI3K/AKT signaling pathway controls the quiescence of the low-Rhodamine123-retention cell compartment enriched for melanoma stem cell activity.

The clinical significance of small copy number variants in neurodevelopmental disorders

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction