List of works - Alexandre Reymond

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

scientific article published on 16 June 2014

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay

scientific article published on 4 February 2012

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

scientific article

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

scientific article published on 31 August 2016

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

scientific article

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

scientific article

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

scientific article

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

scientific article

Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity

scientific article published on October 2001

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

scientific article published on 02 December 2008

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

scientific article

Bayesian association scan reveals loci associated with human lifespan and linked biomarkers

scientific article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

scientific article published on 31 May 2016

Chromosome 21 and down syndrome: from genomics to pathophysiology

scientific article

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

scientific article (publication date: 2002)

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

scientific article

Comparative analysis of the transcriptome across distant species

scientific article

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

scientific article

Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment

scientific article published on 12 April 2004

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes

scientific article

Conserved non-genic sequences - an unexpected feature of mammalian genomes

scientific article

Conserved noncoding sequences are selectively constrained and not mutation cold spots

article by Jared A Drake et al published 25 December 2005 in Nature Genetics

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

scientific article

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Copy number variants, diseases and gene expression

scientific article published on April 2009

Copy number variation modifies expression time courses

scientific article

Copy number variations and cognitive phenotypes in unselected populations

scientific article

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

scientific article published on 2 December 2015

Detecting long-range chromatin interactions using the chromosome conformation capture sequencing (4C-seq) method

scientific article

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

scientific article published on 05 September 2019

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

scientific article

Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis

scientific article

EGASP: the human ENCODE Genome Annotation Assessment Project

scientific article

Efficient targeted transcript discovery via array-based normalization of RACE libraries

scientific article

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

scientific article published on 03 August 2016

Emergence of young human genes after a burst of retroposition in primates

scientific article published in November 2005

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

scientific article

Evidence for transcript networks composed of chimeric RNAs in human cells

scientific article

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

scientific article

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

scientific article

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

scientific article

From PREDs and Open Reading Frames to cDNA Isolation: Revisiting the Human Chromosome 21 Transcription Map ⬇️

scientific article (publication date: November 2001)

GENCODE reference annotation for the human and mouse genomes

scientific article published on 01 January 2019

GENCODE: producing a reference annotation for ENCODE

scientific article

GENCODE: the reference human genome annotation for The ENCODE Project

scientific article

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

scientific article published on September 2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

scientific article published on 10 August 2016

Gene finding in the chicken genome

scientific article

Human chromosome 21 gene expression atlas in the mouse

scientific article published in December 2002

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

scientific article

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

scientific article

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

scientific article

Identification of additional transcripts in the Williams-Beuren syndrome critical region

scientific article (publication date: May 2002)

Identification of structural variation in mouse genomes

scientific article

Identifying protein-coding genes in genomic sequences

scientific article published on 30 January 2009

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

scientific article published on 19 June 2008

Initial sequencing and comparative analysis of the mouse genome

scientific article

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

scientific article

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

scientific article

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

scientific article published on 27 December 2017

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

scientific article published in January 2004

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes

scientific article

Low Rate of Somatic Mutations in a Long-Lived Oak Tree

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

scientific article

Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?

scientific article

Molecular cloning and characterization of a novel retinoblastoma-binding protein

scientific article

Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling

scientific article published on June 2012

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

scientific article published on 9 June 2011

Mutations in the cdc10 start gene of Schizosaccharomyces pombe implicate the region of homology between cdc10 and SWI6 as important for p85cdc10 function

scientific article published in September 1992

New quality measure for SNP array based CNV detection

scientific article published on 10 July 2016

Nineteen additional unpredicted transcripts from human chromosome 21

scientific article (publication date: June 2002)

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

scientific article

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models ⬇️

scientific article published on November 23, 2010

Prematurity and perinatal pathology

scientific article

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

scientific article

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution

scientific article

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

scientific article published on 27 March 2018

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

scientific article

Segmental copy number variation shapes tissue transcriptomes

scientific article published on 8 March 2009

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

scientific article

Side effects of genome structural changes

scientific article published on 24 October 2007

Structural variation and its effect on expression

scientific article published in January 2012

Structural variation-associated expression changes are paralleled by chromatin architecture modifications

scientific article

Structured RNAs in the ENCODE selected regions of the human genome

scientific article

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

scientific article

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease

scientific article published on April 2014

TRIM9 is specifically expressed in the embryonic and adult nervous system

scientific article

Tandem chimerism as a means to increase protein complexity in the human genome

scientific article

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

scientific article

The GENCODE human gene set

article

The GENCODE pseudogene resource

scientific article

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

scientific article published on 24 October 2019

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

scientific article published on 27 September 2017

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

scientific article published on 10 November 2015

The TPTE gene family: cellular expression, subcellular localization and alternative splicing

scientific journal article

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile

scientific article

The effect of translocation-induced nuclear reorganization on gene expression

scientific article

The future is genome-wide

scientific article published on January 2006

The genome sequence of taurine cattle: a window to ruminant biology and evolution

scientific article

The human ROX gene: genomic structure and mutation analysis in human breast tumors

scientific article

The implications of alternative splicing in the ENCODE protein complement

scientific article (publication date: 27 March 2007)

The origins, evolution, and functional potential of alternative splicing in vertebrates

scientific article

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

scientific article

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

scientific article

The tripartite motif family identifies cell compartments

scientific article

The tripartite motif: structure and function

scientific article published on January 1, 2012

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

scientific article published in July 2005

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome

scientific article

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

scientific article published on September 2009

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

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

List of works by Alexandre Reymond

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay

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

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

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

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Bayesian association scan reveals loci associated with human lifespan and linked biomarkers

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Chromosome 21 and down syndrome: from genomics to pathophysiology

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

Comparative analysis of the transcriptome across distant species

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes

Conserved non-genic sequences - an unexpected feature of mammalian genomes

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Copy number variants, diseases and gene expression

Copy number variation modifies expression time courses

Copy number variations and cognitive phenotypes in unselected populations

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

Detecting long-range chromatin interactions using the chromosome conformation capture sequencing (4C-seq) method

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis

EGASP: the human ENCODE Genome Annotation Assessment Project

Efficient targeted transcript discovery via array-based normalization of RACE libraries

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Emergence of young human genes after a burst of retroposition in primates

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

Evidence for transcript networks composed of chimeric RNAs in human cells

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

From PREDs and Open Reading Frames to cDNA Isolation: Revisiting the Human Chromosome 21 Transcription Map ⬇️

GENCODE reference annotation for the human and mouse genomes

GENCODE: producing a reference annotation for ENCODE

GENCODE: the reference human genome annotation for The ENCODE Project

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Gene finding in the chicken genome

Human chromosome 21 gene expression atlas in the mouse

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

Identification of additional transcripts in the Williams-Beuren syndrome critical region

Identification of structural variation in mouse genomes

Identifying protein-coding genes in genomic sequences

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

Initial sequencing and comparative analysis of the mouse genome

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes

Low Rate of Somatic Mutations in a Long-Lived Oak Tree

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

Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?

Molecular cloning and characterization of a novel retinoblastoma-binding protein

Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Mutations in the cdc10 start gene of Schizosaccharomyces pombe implicate the region of homology between cdc10 and SWI6 as important for p85cdc10 function

New quality measure for SNP array based CNV detection

Nineteen additional unpredicted transcripts from human chromosome 21

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models ⬇️

Prematurity and perinatal pathology

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study