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Pilar Cacheiro
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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
3592021
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
1072023
‘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
1032012
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
902018
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
752020
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
602014
New models for human disease from the International Mouse Phenotyping Consortium
P Cacheiro, MA Haendel, D Smedley
Mammalian Genome 30 (5), 143-150, 2019
592019
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
402021
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
202016
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
182012
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
162022
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
92017
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
82023
Databases for neurogenetics: Introduction, overview, and challenges
MJ Sobrido, P Cacheiro, A Carracedo, L Bertram
Human Mutation 33 (9), 1311-1314, 2012
42012
Florence Nightingale's network: Women, power, and scientific collaboration
A Lorenzo-Arribas, P Cacheiro
Significance 17 (2), 22-25, 2020
32020
Essential genes: a cross-species perspective
P Cacheiro, D Smedley
Mammalian Genome 34 (3), 357-363, 2023
22023
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
22023
Mendelian gene identification through mouse embryo viability screening
P Cacheiro, CH Westerberg, J Mager, ME Dickinson, LMJ Nutter, ...
Genome Medicine 14 (1), 119, 2022
22022
Improving prenatal diagnosis through standards and aggregation
MH Duyzend, P Cacheiro, JOB Jacobsen, J Giordano, H Brand, ...
Prenatal Diagnosis, 2024
12024
Lethal phenotypes in Mendelian disorders
P Cacheiro, S Lawson, IB Van den Veyver, G Marengo, D Zocche, ...
medRxiv, 2024.01. 12.24301168, 2024
12024
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