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Valerie Cormier-Daire

Valerie Cormier-Daire (Valérie Cormier-Daire),Hôpital Necker Enfants Malades,Genetics & Genealogy,Family Medicine,Neuroscience

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Valerie Cormier-Daire (Valérie Cormier-Daire)

Hôpital Necker Enfants Malades

Publications: 201 | Citations: 2566

Fields: Genetics & Genealogy, Family Medicine, Neuroscience

Collaborated with 1134 co-authors from 1994 to 2012 | Cited by 9789 authors

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Publications (201)

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Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome

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Journal: Journal of Clinical and Experimental Neuropsychology - J CLIN EXP NEUROPSYCHOL , vol. ahead-of-p, no. ahead-of-p, pp. 1-8, 2012

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis (Citations: 3)

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 4, pp. 306-308, 2011

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias (Citations: 2)

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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 89, no. 1, pp. 7-14, 2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (Citations: 1)

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 6, pp. 601-606, 2011

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

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Journal: PLOS Genetics - PLOS GENET , vol. 7, no. 4, 2011

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Citations (2566 times by 2164 publications)

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

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Journal: Molecular Psychiatry - MOL PSYCHIATR , vol. 17, no. 2, pp. 142-153, 2012

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

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Journal: Nature Genetics - NAT GENET , vol. 44, no. 3, pp. 277-284, 2012

Variation of BMP3 Contributes to Dog Breed Skull Diversity

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Journal: PLOS Genetics - PLOS GENET , vol. 8, no. 8, 2012

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

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Journal: PLOS One , vol. 7, no. 5, 2012

Microenvironmental Regulation by Fibrillin1

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Journal: PLOS Genetics - PLOS GENET , vol. 8, no. 1, 2012

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Co-authors (1134)

Journals (47)

Keywords (289)

Valerie Cormier-Daire (Valérie Cormier-Daire),Hôpital Necker Enfants Malades,Genetics & Genealogy,Family Medicine,Neuroscience

Publications (201)

BibTeX | RIS | RefWorks Download

Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis (Citations: 3)

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias (Citations: 2)

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (Citations: 1)

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Citations (2566 times by 2164 publications)

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Variation of BMP3 Contributes to Dog Breed Skull Diversity

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Microenvironmental Regulation by Fibrillin1


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Valerie Cormier-Daire (Valérie Cormier-Daire),Hôpital Necker Enfants Malades,Genetics & Genealogy,Family Medicine,Neuroscience

Publications (201) BibTeX | RIS | RefWorks Download

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis (Citations: 3)

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias (Citations: 2)

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (Citations: 1)

Publications (201)

BibTeX | RIS | RefWorks Download