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Stanislas Lyonnet
Affiliation : Hôpital Necker-Enfants Malades · Inserm · Université Paris Cité · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine
- 14Publications (affiliation in France)
- 688Total publications
- 43126Citations
- 98h-index
Research profile
Stanislas Lyonnet has 14 indexed publications (1999–2019). Their work appears mainly in “Human Mutation”, “The American Journal of Human Genetics” and “Nature Genetics”. Their most cited article, “Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease” (2004), has been cited 426 times. 5 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Morocco, Tunisia.
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Create my free profile Add my publicationsResearch areas
- Genomics and Rare Diseases
- Congenital gastrointestinal and neural anomalies
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
Publications (14)
- Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
- Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
- CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
- Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
- Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia
- TCTN3 Mutations Cause Mohr-Majewski Syndrome
- REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
- High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
- Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
- Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
- Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28
- Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13
Publication venues
- Human Mutation × 3
- The American Journal of Human Genetics × 3
- Nature Genetics × 2
- European Journal of Human Genetics × 2
- Nature Communications × 1
- Molecular Syndromology × 1
Publications per year
- 20192
- 20173
- 20152
- 20121
- 20111
- 20101
- 20071
- 20041
- 20021
- 19991
Collaborations
Partner institutions : Université Paris Descartes · Centre National de la Recherche Scientifique · Pitié-Salpêtrière Hospital · Sorbonne Paris Cité · Institut Necker Enfants Malades
Co-authors’ countries : Morocco · Tunisia
Co-authors
- Arnold Münnich
- Patrick Nitschké
- Christine Bôle‐Feysot
- Tania Attié‐Bitach
- Smail Hadj-Rabia
- Lekbir Baala
- Férechté Encha‐Razavi
- Jeanne Amiel
- Bettina Bessières
- Frédéric Brioude
- Jéléna Martinovic
- Yves De Prost
Bibliographic data from OpenAlex (open database).
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