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Carine Le Goff

Observed names: C GOFF, C Le Goff, C. Le Goff, Carine LE GOFF, Carine Le Goff, Carine le Goff, Le Goff, C, Le Goff,Carine
Observed institutions: Hôpital Necker-Enfants Malades, Cleveland Clinic, Inserm, United Arab Emirates University, Université Paris Cité, Sorbonne Université, Institut Necker Enfants Malades, Université Sorbonne Paris Nord, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Laboratoire de Recherche Vasculaire Translationnelle, Hôpital Bichat-Claude-Bernard, Institut des Maladies Génétiques Imagine, Université Paris Diderot, Université Paris Descartes, Cleveland Clinic Research, The University of Texas Health Science Center at Houston
ORCID: 0000-0002-7788-708X
Observed ORCID: 0000-0002-7788-708X
OpenAlex ID: A5043127129
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
2008 · Carine Le Goff, Fanny Morice-Picard, et al. · Nature Genetics · 243
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
2011 · Carine Le Goff, Clémentine Mahaut, et al. · The American Journal of Human Genetics · 229
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
2011 · Carine Le Goff, Clémentine Mahaut, et al. · Nature Genetics · 161
Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis
2012 · Caroline Michot, Carine Le Goff, et al. · The American Journal of Human Genetics · 128
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The ADAMTS(L) family and human genetic disorders
2011 · C. Le Goff, V. Cormier-Daire · Human Molecular Genetics · 116
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis
2006 · Carine Le Goff, Robert P. T. Somerville, et al. · Development · 112
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Adamts9 is widely expressed during mouse embryo development
2005 · Katherine A. Jungers, Carine Le Goff, et al. · Gene Expression Patterns · 108
Identification of CANT1 Mutations in Desbuquois Dysplasia
2009 · Céline Huber, Bénédicte Oulès, et al. · The American Journal of Human Genetics · 104
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Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues
2009 · Daniel R. McCulloch, Carine Le Goff, et al. · Gene Expression Patterns · 87
From tall to short: The role of TGFβ signaling in growth and its disorders
2012 · Carine Le Goff, Valérie Cormier‐Daire · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 85
Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes
2007 · N. Dagoneau, S. Bellais, et al. · The American Journal of Human Genetics · 70
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
2012 · Mathilde Nizon, Céline Huber, et al. · Human Mutation · 63
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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
2016 · Aideen M McInerney-Leo, Carine Le Goff, et al. · Journal of Medical Genetics · 62
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
2011 · Slimane Allali, Carine Le Goff, et al. · Journal of Medical Genetics · 60
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ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis☆
2007 · B KOO, C GOFF, et al. · Matrix Biology · 58
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
2014 · Caroline Michot, Carine Le Goff, et al. · European Journal of Human Genetics · 55
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
2020 · Sandy Elbitar, Marjolijn Renard, et al. · Genetics in Medicine · 51
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Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
2016 · Carine Le Goff, Curtis Rogers, et al. · The American Journal of Human Genetics · 47
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Myhre syndrome
2014 · C. Le Goff, C. Michot, et al. · Clinical Genetics · 40
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency
2018 · Laure Delhon, Clémentine Mahaut, et al. · The FASEB Journal · 39
Genetic and molecular aspects of acromelic dysplasia.
2009 · Carine Le Goff, Valerie Cormier-Daire · PubMed · 39
ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms
2021 · Zakaria Mougin, Julia Huguet Herrero, et al. · Biomolecules · 32
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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
2021 · Pauline Arnaud, Hélène Morel, et al. · Genetics in Medicine · 31
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
2018 · Caroline Michot, Carine Le Goff, et al. · European Journal of Human Genetics · 31
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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 ofSRCAP
2012 · Carine Le Goff, Clémentine Mahaut, et al. · Human Mutation · 30
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Works count: 59
Citation count: 2,251
H-index: 25
I10-index: 34
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