E. Lopez

Most-cited papers

1. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

   C. Thauvin-Robinet, Jaclyn S. Lee, E. Lopez, V. Herranz-Pérez +25 more

   2014Nature Genetics133 citations Open access

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2. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

   Jean-Benoît Courcet, L. Faivre, P. Malzac, A. Masurel‐Paulet +14 more

   2012Journal of Medical Genetics120 citations

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3. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

   Chun-Mei Li, Victor L Jensen, Kwangjin Park, Julie E. Kennedy +14 more

   2016PLoS Biology116 citations Open access

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4. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

   V. Carmignac, J. Thevenon, L. Adès, B. Callewaert +34 more

   2012American Journal of Human Genetics114 citations Open access

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5. Cohen syndrome is associated with major glycosylation defects.

   L. Duplomb, S. Duvet, Damien Picot, G. Jego +21 more

   2014Human Molecular Genetics96 citations

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6. 15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

   A. Bruel, B. Franco, Y. Duffourd, J. Thevenon +48 more

   2017Journal of Medical Genetics92 citations Open access

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7. C5orf42 is the major gene responsible for OFD syndrome type VI

   E. Lopez, C. Thauvin-Robinet, B. Reversade, Nadia El Khartoufi +28 more

   2013Human Genetics84 citations

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8. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

   E. Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, S. Marlin +10 more

   2016Journal of Medical Genetics54 citations

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9. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

   J. Thevenon, E. Lopez, B. Keren, D. Heron +30 more

   2012Journal of Medical Genetics46 citations

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10. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

    C. Thauvin-Robinet, S. Thomas, M. Sinico, B. Aral +21 more

    2013Clinical Genetics39 citations

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11. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

    Angèle Tingaud-Sequeira, A. Trimouille, S. Marlin, E. Lopez +5 more

    2020Molecular Genetics & Genomic Medicine29 citations Open access

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12. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

    Angèle Tingaud-Sequeira, A. Trimouille, M. Salaria, Rachel Stapleton +7 more

    2021Human Genetics24 citations

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13. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

    V. Darmency-Stamboul, L. Burglen, E. Lopez, N. Méjean +18 more

    2013European Journal of Medical Genetics20 citations

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14. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

    C. Alby, L. Boutaud, M. Bonnière, S. Collardeau-Frachon +20 more

    2018Birth Defects Research8 citations

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15. Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

    E. Lopez, P. Callier, V. Cormier-Daire, D. Lacombe +13 more

    2012American Journal of Medical Genetics. Part A8 citations Open access

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16. GLI3 is rarely implicated in OFD syndromes with midline abnormalities

    M. Avila, N. Gigot, B. Aral, P. Callier +15 more

    2011Human Mutation6 citations Open access

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