L. Baala

Most-cited papers

1. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

   M. Delous, L. Baala, R. Salomon, C. Laclef +33 more

   2007Nature Genetics501 citations

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2. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

   S. Hadj-Rabia, L. Baala, Pierre Vabres, D. Hamel-Teillac +7 more

   2004Gastroenterology401 citations Open access

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3. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

   L. Baala, S. Audollent, J. Martinovic, C. Ozilou +31 more

   2007American Journal of Human Genetics288 citations Open access

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4. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

   L. Baala, S. Romano, Rana Khaddour, S. Saunier +17 more

   2007American Journal of Human Genetics253 citations Open access

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5. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

   L. Baala, S. Briault, H. Etchevers, F. Laumonnier +11 more

   2007Nature Genetics204 citations

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6. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

   E. Bal, L. Baala, C. Cluzeau, F. El Kerch +7 more

   2007Human Mutation95 citations

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7. MUTATION IN BRIEF

   Rana Khaddour, U. Smith, L. Baala, J. Martinovic +31 more

   93 citations

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8. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation

   C. Crétolle, A. Pelet, D. Sanlaville, M. Zérah +7 more

   2008Human Mutation79 citations

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9. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

   L. Baala, S. Hadj-Rabia, D. Hamel-Teillac, M. Hadchouel +9 more

   2002Journal of Investigative Dermatology64 citations Open access

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10. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

    A. Lossos, L. Baala, D. Soffer, L. Averbuch‐Heller +9 more

    2004Brain : a journal of neurology32 citations

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11. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

    Siham Chafai-Elalaoui, M. Chalon, Nadia Elkhartoufi, Yamna Kriouele +4 more

    2015Journal of Medical Case Reports11 citations Open access

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12. Case Report: Co-infection with SARS-CoV-2 and influenza H1N1 in a patient with acute respiratory distress syndrome and a pulmonary sarcoidosis

    L. Baala, D. Benzékri-Lefèvre, L. Bret, T. Kamel +17 more

    2020F1000Research6 citations Open access

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13. Sensitivity and specificity of heat and moisture exchange filters sampling for SARS-CoV-2 detection in mechanically ventilated COVID-19 patients

    T. Kamel, C. Guillaume, G. Muller, L. Baala +15 more

    2022Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi1 citations Open access

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