C. Beugnet

Most-cited papers

1. Revised spectrum of mutations in sarcoglycanopathies

   M. Trabelsi, N. Kavian, F. Daoud, V. Commere +8 more

   2008European Journal of Human Genetics86 citations

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2. Detection of exonic copy‐number changes using a highly efficient oligonucleotide‐based comparative genomic hybridization‐array method

   Y. Saillour, M. Cossée, F. Leturcq, Aurélie Vasson +10 more

   2008Human Mutation56 citations Open access

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3. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia

   L. Orhant, O. Anselem, M. Fradin, P. Becker +10 more

   2016Prenatal Diagnosis55 citations

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4. When a mid-intronic variation of DMD gene creates an ESE site.

   M. Trabelsi, C. Beugnet, N. Deburgrave, Virgine Commere +3 more

   2014Neuromuscular Disorders29 citations

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5. Foveal hypoplasia grading in 95 cases of congenital aniridia: correlation to phenotype and PAX6 genotype.

   A. Daruich, M. Robert, Camille Leroy, N. de Vergnes +4 more

   2021American journal of ophthalmology-glaucoma20 citations Open access

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6. VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.

   C. Garnier, F. Briki, B. Nedelec, P. Le Pogamp +11 more

   2017Blood18 citations Open access

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7. New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.

   M. Colombat, J. Aldigier, P. Rothschild, V. Javaugue +14 more

   2020Kidney International17 citations Open access

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8. Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

   B. Terrier, M. Colombat, C. Beugnet, Astrid Quéant +10 more

   2017Journal of Medical Case Reports5 citations Open access

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9. Molecular basis for a novel systemic form of human hereditary apoA-I amyloidosis with vision loss

   I. Morgado, P. Rothschild, Afra Panahi, J. Aldigier +15 more

   2018bioRxiv0 citations Open access

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10. Genetic anomalies in congenital cataract

    D. Bremond-Gignac, C. B. D. Roziers, C. Beugnet, C. Fourrage +3 more

    20170 citations

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11. Update in genetics of corneal dystrophies

    J. Bourges, C. B. D. Roziers, C. Beugnet, B. Nedelec +10 more

    20170 citations

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12. Title Droplet Digital PCR combined with minisequencing , a new approach to analyze fetal DNA from maternal blood : application to the non-invasive prenatal diagnosis of achondroplasia Running Head Non-invasive prenatal diagnosis of achondroplasia by ddPCR and minisequencing

    L. Orhant, O. Anselem, M. Fradin, P. Becker +9 more

    20160 citations

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13. P2.43 Revisiting X-linked Emery-Dreifuss muscular dystrophy. New insights into an old story

    R. ben Yaou, C. Beugnet, K. Chikhaoui, D. Hamroun +4 more

    20110 citations

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