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Fondation Maladies Rares

Alternate names: FMR, La Fondation Maladies Rares, FFRD, French Foundation for Rare Diseases
Description: nonprofit organization in Paris, France
Country: FR
ROR: 03jpxze54
Wikidata ID: entity/Q33121902
Crossref ID: 100014865
DOI: 10.13039/100014865
OpenAlex ID: F4320315367
Artemisinins Target GABAA Receptor Signaling and Impair α Cell Identity
2016 · Jin Li, Tamara Casteels, et al. · Cell · 401
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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
2018 · Charles Coutton, Alexandra S. Vargas, et al. · Nature Communications · 259
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The STARMEN trial indicates that alternating treatment with corticosteroids and cyclophosphamide is superior to sequential treatment with tacrolimus and rituximab in primary membranous nephropathy
2020 · Gema Fernández-Juárez, Jorge Rojas-Rivera, et al. · Kidney International · 255
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
2013 · Johann Böhm, Frédéric Chevessier, et al. · The American Journal of Human Genetics · 234
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Plasma Dihydroceramides Are Diabetes Susceptibility Biomarker Candidates in Mice and Humans
2017 · Leonore Wigger, Céline Cruciani-Guglielmacci, et al. · Cell Reports · 230
Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2
2016 · Nina Bögershausen, Vincent Gatinois, et al. · Human Mutation · 204
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RNA 2′-O-Methylation (Nm) Modification in Human Diseases
2019 · Dilyana G. Dimitrova, Laure Teysset, et al. · Genes · 201
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Altered glycosylation of IgG4 promotes lectin complement pathway activation in anti-PLA2R1–associated membranous nephropathy
2020 · George Haddad, Johan M. Lorenzen, et al. · Journal of Clinical Investigation · 190
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse
2018 · Frederick N. Dong, Amir Amiri-Yekta, et al. · The American Journal of Human Genetics · 175
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
2019 · Rahel T. Florian, Florian Kraft, et al. · Nature Communications · 169
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
2019 · Mark A. Corbett, Thessa Kroes, et al. · Nature Communications · 164
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
2019 · Charles Coutton, Guillaume Martinez, et al. · The American Journal of Human Genetics · 160
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The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
2022 · Sedigheh Delmaghani, Aziz El-Amraoui · Human Genetics · 143
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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
2020 · Najim Lahrouchi, Rafik Tadros, et al. · Circulation · 142
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
2016 · Vanessa Schartner, Norma B. Romero, et al. · Acta Neuropathologica · 139
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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
2017 · Zine‐Eddine Kherraf, Marie Christou‐Kent, et al. · EMBO Molecular Medicine · 138
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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
2018 · Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, et al. · Blood · 136
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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission
2017 · Sylvie Gerber, Majida Charif, et al. · Brain · 134
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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
2016 · Deciphering Developmental Disorders study, Loïc Broix, et al. · Nature Genetics · 133
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Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations
2016 · Amir Amiri-Yekta, Charles Coutton, et al. · Human Reproduction · 131
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Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges
2020 · Sedigheh Delmaghani, Aziz El-Amraoui · Journal of Clinical Medicine · 129
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Future treatments for hereditary hemorrhagic telangiectasia
2020 · Florian Robert, Agnès Desroches-Castan, et al. · Orphanet Journal of Rare Diseases · 125
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Functional variants of POC5 identified in patients with idiopathic scoliosis
2015 · Shunmoogum A. Patten, Patricia Margaritte-Jeannin, et al. · Journal of Clinical Investigation · 125
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
2018 · Guillaume Martinez, Zine-Eddine Kherraf, et al. · Human Reproduction · 123
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A heterodimer formed by bone morphogenetic protein 9 (BMP9) and BMP10 provides most BMP biological activity in plasma
2018 · Emmanuelle Tillet, Marie Ouarné, et al. · Journal of Biological Chemistry · 123
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Works count: 498
Citation count: 15,370
H-index: 67
I10-index: 306
2-year mean citedness: 4.6
Awards count: 84
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