Olivier Pichon

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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

R. Redon, C. Dina, E. Charpentier, 2016, Circulation. Cardiovascular genetics.

Disruption of the SEMA3D Gene in a Patient with Congenital Heart Defects

V. Gournay, O. Pichon, A. David, 2015, Human mutation.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

C. Le Caignec, B. Isidor, O. Pichon, 2010, American journal of medical genetics. Part A.

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

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

De novo duplication and deletions at 7q in a three‐generation family

L. Pérez-Jurado, C. Le Caignec, B. Isidor, 2012, American journal of medical genetics. Part A.

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

Y. Crow, É. Lainey, B. Isidor, 2013, American journal of medical genetics. Part A.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

R. Redon, A. Toutain, C. Retière, 2019, American journal of human genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

A. Toutain, J. Deleuze, L. Pasquier, 2023, Journal of Medical Genetics.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, American journal of human genetics.

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

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

Identification of two novel mutations in Shh long‐range regulator associated with familial pre‐axial polydactyly

C. Le Caignec, B. Isidor, S. Bézieau, 2011, Clinical 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.

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

A. Toutain, C. Le Caignec, B. Isidor, 2009, American journal of medical genetics. Part A.

Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma

C. Le Caignec, P. Layrolle, O. Pichon, 2018, International journal of molecular sciences.

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.

C. Le Caignec, B. Isidor, O. Pichon, 2008, European journal of medical genetics.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

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

Pierre Lindenbaum, Christian Dina, Laurence Faivre, 2011, Nature Genetics.

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

C. Le Caignec, B. Isidor, O. Pichon, 2019, European journal of medical genetics.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

Congenital Heart Defects in Patients with Deletions Upstream of SOX9

A. Visel, L. Pennacchio, S. Lyonnet, 2013, Human mutation.

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

R. Redon, M. Bitner-Glindzicz, G. Mortier, 2010, American journal of human genetics.

Mandibular dysostosis without microphthalmia caused by OTX2 deletion

C. Le Caignec, B. Isidor, O. Pichon, 2016, American journal of medical genetics. Part A.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.