C. Bonnet

发表

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

S. Haas, V. Kalscheuer, H. Man, 2013, Human molecular genetics.

MAN1B1-CDG: Three new individuals and associated biochemical profiles

E. Schmitt, B. Cogné, B. Isidor, 2021, Molecular genetics and metabolism reports.

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

Saaïd Amzazi, Philippe Jonveaux, Abdelaziz Sefiani, 2014, Molecular Cytogenetics.

Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment.

J. Howe, Ugljesa Djuric, P. Diamandis, 2022, Cell reports.

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis

C. Philippe, P. Jonveaux, J. Auger, 2013, American journal of medical genetics. Part A.

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

I. Bièche, M. Stern, R. Lidereau, 2021, Cancers.

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET

M. Michaud, A. Verger, E. Schmitt, 2022, neurogenetics.

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

P. Jonveaux, B. Leheup, E. Raffo, 2008, Journal of Human Genetics.

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson’s disease

M. Obadia, A. Poujois, E. Schmitt, 2022, Journal of Neurology.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

N. Drouot, O. Quenez, K. Cassinari, 2022, Human mutation.

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity

B. Leheup, F. Fouyssac, L. Lambert, 2019, Front. Immunol..

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

N. Lévy, A. Echaniz-Laguna, P. Latour, 2007, Neuromuscular Disorders.

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

P. Jonveaux, G. Weryha, B. Leheup, 2014, Journal of Endocrinological Investigation.

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

L. Faivre, C. Philippe, P. Jonveaux, 2012, Human mutation.

Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation

L. Lambert, C. Bonnet, O. Morel, 2022, Prenatal diagnosis.

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

P. Chambon, C. Philippe, P. Jonveaux, 2008, European Journal of Human Genetics.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

A. Reis, A. Rauch, M. Krumbiegel, 2022, European journal of medical genetics.

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

C. Philippe, B. Leheup, O. Klein, 2022, Molecular genetics & genomic medicine.

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J. Rosenfeld, R. Pfundt, M. Shinawi, 2020, Journal of Medical Genetics.

Evaluation of the Quotient® MosaiQ™ COVID-19 antibody microarray for the detection of IgG and IgM antibodies to SARS-CoV-2 virus in humans

I. Leparc-Goffart, A. Mérens, C. Bonnet, 2020, Journal of Clinical Virology.

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization

P. Jonveaux, B. Leheup, E. Raffo, 2006, Journal of Human Genetics.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

J. Thevenon, L. Faivre, P. Jonveaux, 2015, JIMD reports.

What can we learn from old microdeletion syndromes using array‐CGH screening?

L. Faivre, P. Jonveaux, C. Thauvin-Robinet, 2012, Clinical genetics.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

A retrospective study by oligonucleotide array‐CGH analysis in 50 fetuses with multiple malformations

C. Philippe, P. Jonveaux, B. Foliguet, 2010, Prenatal diagnosis.

Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity

C. Philippe, P. Jonveaux, C. Bonnet, 2006, American journal of medical genetics. Part A.

L'hybridation génomique comparative sur microréseau d'ADN (puces à ADN) en pathologie chromosomique constitutionnelle

P. Chambon, C. Bonnet, M. Grégoire, 2007 .

Toxicity of TiO2 Nanoparticles: Validation of Alternative Models

R. Schneider, S. Migot, V. Zhernovkov, 2020, International journal of molecular sciences.

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability

C. Philippe, P. Jonveaux, M. Bronner, 2012, American journal of medical genetics. Part A.

Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation

C. Philippe, P. Jonveaux, B. Leheup, 2009, American journal of medical genetics. Part A.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

M. Devignes, C. Philippe, P. Jonveaux, 2013, European Journal of Human Genetics.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers

A. Leroux, J. Salleron, J. Merlin, 2020, Scientific Reports.

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

C. Bénéteau, C. Philippe, P. Jonveaux, 2010, American journal of medical genetics. Part A.

First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

M. Bronner, J. Ravel, L. Lambert, 2022, American journal of medical genetics. Part A.

Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound

L. Lambert, C. Bonnet, O. Morel, 2022, Journal of Maternal-Fetal & Neonatal Medicine.

Expression of neurotensin receptor 1 in endometrial adenocarcinoma is correlated with histological grade and clinical outcome

P. Forgez, S. Lacomme, J. Vignaud, 2017, Virchows Archiv.

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Z. Tümer, H. Stewart, C. Ruivenkamp, 2015, American journal of medical genetics. Part A.

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

C. Bénéteau, C. Philippe, P. Jonveaux, 2011, Journal of Medical Genetics.

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

P. Jonveaux, G. Weryha, L. Lambert, 2014, Annales de biologie clinique.

Mining Linked Open Data: A Case Study with Genes Responsible for Intellectual Disability

Adrien Coulet, Marie-Dominique Devignes, Malika Smaïl-Tabbone, 2014, DILS.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia

B. Brais, F. Weber, M. Synofzik, 2023, medRxiv.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

N. Drouot, M. Koenig, F. Ory-Magne, 2021, Journal of Neurology.

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

M. Michaud, S. Frismand, J. Benoist, 2023, Parkinsonism & related disorders.

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)

J. Hascoët, L. Lambert, J. Vigneron, 2012, Clinical dysmorphology.

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

G. Lefort, P. Jonveaux, B. Leheup, 2023, Genome Medicine.

ENPP1 homozygous stop-loss variant causing generalized arterial cal cifications of infancy: About a severe neonatal clinical case.

M. Bronner, L. Lambert, C. Bonnet, 2023, European journal of medical genetics.

Scale-Up of Academic Mesenchymal Stromal Cell Production

L. Reppel, D. Bensoussan, N. Charif, 2023, Journal of clinical medicine.

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson’s disease

M. Obadia, A. Poujois, E. Schmitt, 2022, Journal of Neurology.

Is Cell-free fetal DNA testing a safe option for women in a high-risk population after combined first-trimester testing?

C. Bonnet, O. Morel, E. Perdriolle‐Galet, 2022, Journal of gynecology obstetrics and human reproduction.

ILP for Mining Linked Open Data: a biomedical Case Study

Adrien Coulet, Marie-Dominique Devignes, Malika Smaïl-Tabbone, 2014, ILP 2014.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

H. Galehdari, M. Abramowicz, G. Lefort, 2022, Clinical genetics.

Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

B. Brais, M. Synofzik, H. Houlden, 2023, Movement disorders : official journal of the Movement Disorder Society.

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

M. Eberle, T. Pastinen, B. Brais, 2023, bioRxiv.

Unraveling the Missing Heritability in Late‐Onset Cerebellar Ataxia

C. Bonnet, 2023, Movement disorders : official journal of the Movement Disorder Society.

Manifestations endocrines du syndrome de Woodhouse-Sakati, revue exhaustive de la littérature

P. Jonveaux, G. Weryha, C. Bonnet, 2013 .

Site frequency spectrum of a rescued population under rare resistant mutations

H. Leman, C. Bonnet, 2023, 2303.04069.

Cooperation of bio-ontologies for the classification of genetic intellectual disabilities : a diseasome approach

Adrien Coulet, Marie-Dominique Devignes, Malika Smaïl-Tabbone, 2018, SWAT4LS.

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis

C. Philippe, P. Jonveaux, J. Auger, 2013, American journal of medical genetics. Part A.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.