F. Reinier

Most-cited papers

1. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

   Jessica X. Chong, K. Buckingham, S. Jhangiani, C. Boehm +38 more

   2015American Journal of Human Genetics615 citations Open access

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2. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

   C. Sidore, F. Busonero, A. Maschio, E. Porcu +36 more

   2015Nature Genetics365 citations Open access

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3. Genetic Variants Regulating Immune Cell Levels in Health and Disease

   V. Orrù, M. Steri, G. Sole, C. Sidore +48 more

   2013Cell358 citations Open access

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4. Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

   P. Francalacci, L. Morelli, A. Angius, R. Berutti +35 more

   2013Science161 citations Open access

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5. Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

   Jessica X. Chong, Lindsay C. Burrage, A. Beck, Colby T. Marvin +60 more

   2015bioRxiv65 citations Open access

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6. Population and individual-specific regulatory variation in Sardinia

   M. Pala, Z. Zappala, M. Marongiu, X. Li +29 more

   2017Nature Genetics41 citations Open access

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7. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

   F. Reinier, M. Zoledziewska, D. Hanna, Joshua D. Smith +15 more

   2015Metabolism: Clinical and Experimental32 citations

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8. Uncovering and deciphering the pro-invasive role of HACE1 in melanoma cells

   Najla El Hachem, Nadia Habel, Tanesha Naiken, H. Bzioueche +10 more

   2018Cell Death and Differentiation28 citations Open access

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9. PROTOGENE: turning amino acid alignments into bona fide CDS nucleotide alignments

   S. Moretti, F. Reinier, Olivier Poirot, F. Armougom +3 more

   2006Nucleic Acids Res.18 citations Open access

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10. Copy Number Changes Identified Using Whole Exome Sequencing in Non-Syndromic Cleft Lip and Palate in a Honduran Population

    Yi Cai, K. Patterson, F. Reinier, Sarah E Keesecker +3 more

    2017Birth Defects Research16 citations Open access

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11. Germline variants in exonic regions have limited impact on immune checkpoint blockade clinical outcomes in advanced melanoma

    H. Montaudié, Guillaume Emmanuel Beranger, F. Reinier, Nicolas Nottet +5 more

    2021Pigment Cell & Melanoma Research9 citations

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12. New Drug Repositioning Candidates for T-ALL Identified Via Human/Murine Gene Signature Comparison

    R. Bonnet, Marielle Nebout, Carine Brousse, F. Reinier +3 more

    2020Frontiers in Oncology6 citations Open access

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13. European Y-Chromosome Phylogeny Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs

    L. Morelli, A. Angius, R. Berutti, F. Reinier +34 more

    20132 citations

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14. Uncovering and deciphering the pro-invasive role of HACE1 in melanoma cells

    Najla El Hachem, Nadia Habel, Tanesha Naiken, H. Bzioueche +10 more

    2018Cell Death and Differentiation0 citations Open access

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15. Systematic assessment of the immune system by genetic mapping of its quantitative dimensions

    S. Sanna, M. Steri, G. Sole, C. Sidore +16 more

    20120 citations

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16. Scaling with the flow: advantages of a MapReduce-based scalable and high-throughput sequencing workflow

    L. Pireddu, Simone Leo, F. Reinier, R. Berutti +2 more

    20110 citations

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17. CENTRAL AVALANCHE HAZARD FORECASTING-PHASE I FEASIBILITY STUDY-FINAL REPORT

    E. Lachapelle, R. Marriott, M. Moore, F. Reinier +1 more

    19750 citations

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