| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 544 | 2021 |
| The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease T Groza, FL Gomez, HH Mashhadi, V Muñoz-Fuentes, O Gunes, R Wilson, ... Nucleic acids research 51 (D1), D1038-D1045, 2023 | 261 | 2023 |
| ‘Costa da Morte’ataxia is spinocerebellar ataxia 36: clinical and genetic characterization M García-Murias, B Quintans, M Arias, AI Seixas, P Cacheiro, R Tarrío, ... Brain 135 (5), 1423-1435, 2012 | 115 | 2012 |
| The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation V Muñoz-Fuentes, P Cacheiro, TF Meehan, JA Aguilar-Pimentel, ... Conservation genetics 19, 995-1005, 2018 | 110 | 2018 |
| Human and mouse essentiality screens as a resource for disease gene discovery P Cacheiro, V Muñoz-Fuentes, SA Murray, ME Dickinson, M Bucan, ... Nature communications 11 (1), 655, 2020 | 97 | 2020 |
| New models for human disease from the International Mouse Phenotyping Consortium P Cacheiro, MA Haendel, D Smedley Mammalian Genome 30 (5), 143-150, 2019 | 69 | 2019 |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome MA Cousin, BA Creighton, KA Breau, RC Spillmann, E Torti, S Dontu, ... Nature Genetics 53 (7), 1006-1021, 2021 | 64 | 2021 |
| Medical genomics: The intricate path from genetic variant identification to clinical interpretation B Quintáns, A Ordóñez-Ugalde, P Cacheiro, A Carracedo, MJ Sobrido Applied & translational genomics 3 (3), 60-67, 2014 | 60 | 2014 |
| Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology F Dhombres, P Morgan, BP Chaudhari, I Filges, TN Sparks, P Lapunzina, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 32 | 2022 |
| Synaptotagmin XI in Parkinson's disease: new evidence from an association study in Spain and Mexico A Sesar, P Cacheiro, M López-López, M Camiña-Tato, B Quintáns, ... Journal of the Neurological Sciences 362, 321-325, 2016 | 26 | 2016 |
| Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration A Vetro, C Pelorosso, S Balestrini, A Masi, S Hambleton, E Argilli, V Conti, ... The American Journal of Human Genetics, 2023 | 21 | 2023 |
| A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample C Sintas, O Carreno, J Fernández-Morales, P Cacheiro, MJ Sobrido, ... Cephalalgia 32 (14), 1076-1080, 2012 | 18 | 2012 |
| Mendelian gene identification through mouse embryo viability screening P Cacheiro, CH Westerberg, J Mager, ME Dickinson, LMJ Nutter, ... Genome Medicine 14 (1), 119, 2022 | 11 | 2022 |
| Evaluating the calling performance of a rare disease NGS panel for single nucleotide and copy number variants P Cacheiro, A Ordóñez-Ugalde, B Quintáns, S Piñeiro-Hermida, J Amigo, ... Molecular Diagnosis & Therapy 21, 303-313, 2017 | 11 | 2017 |
| Knockout mice are an important tool for human monogenic heart disease studies P Cacheiro, N Spielmann, HH Mashhadi, H Fuchs, V Gailus-Durner, ... Disease Models & Mechanisms 16 (5), dmm049770, 2023 | 8 | 2023 |
| A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery D Danis, MJ Bamshad, Y Bridges, A Caballero-Oteyza, P Cacheiro, ... Human Genetics and Genomics Advances 6 (1), 2025 | 7 | 2025 |
| Florence Nightingale's network: Women, power, and scientific collaboration A Lorenzo-Arribas, P Cacheiro Significance 17 (2), 22-25, 2020 | 6 | 2020 |
| Lethal phenotypes in Mendelian disorders P Cacheiro, S Lawson, IB Van den Veyver, G Marengo, D Zocche, ... Genetics in Medicine 26 (7), 101141, 2024 | 4 | 2024 |
| Improving prenatal diagnosis through standards and aggregation MH Duyzend, P Cacheiro, JOB Jacobsen, J Giordano, H Brand, ... Prenatal diagnosis 44 (4), 454-464, 2024 | 4 | 2024 |
| Essential genes: a cross-species perspective P Cacheiro, D Smedley Mammalian Genome 34 (3), 357-363, 2023 | 4 | 2023 |
Manuel AriasCLINICA NEUROLOGICAכתובת אימייל מאומתת בדומיין usc.es