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Guillem de Valles Ibáñez
Guillem de Valles Ibáñez
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Title
Cited by
Cited by
Year
Morphometric, behavioral, and genomic evidence for a new orangutan species
A Nater, MP Mattle-Greminger, A Nurcahyo, MG Nowak, M De Manuel, ...
Current Biology 27 (22), 3487-3498. e10, 2017
3182017
Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond
G de Valles-Ibáñez, A Esteve-Sole, M Piquer, EA González-Navarro, ...
Frontiers in Immunology 9, 636, 2018
1412018
Non-Hodgkin lymphoma in pediatric patients with common variable immunodeficiency
M Piquer Gibert, L Alsina, MT Giner Muñoz, O Cruz Martínez, ...
European journal of pediatrics 174, 1069-1076, 2015
302015
Genomes reveal marked differences in the adaptive evolution between orangutan species
MP Mattle-Greminger, T Bilgin Sonay, A Nater, M Pybus, T Desai, ...
Genome biology 19, 1-13, 2018
272018
Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes
G de Valles-Ibáñez, J Prado-Martinez, J Hernandez-Rodriguez, P Luisi, ...
Genome Biology 8, 871-877, 2016
252016
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy
LG Sadleir, G de Valles‐Ibáñez, C King, M Coleman, S Mossman, ...
Epilepsia 61 (4), e23-e29, 2020
212020
The epileptology of GNB5 encephalopathy
G Poke, C King, A Muir, G de Valles‐Ibáñez, M Germano, ...
Epilepsia 60 (11), e121-e127, 2019
152019
Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond. Front. Immunol. 9, 636
G de Valles-Ibáñez, A Esteve-Solé, M Piquer, EA Gonzalez-Navarro, ...
72018
PIGN encephalopathy: Characterizing the epileptology
A Bayat, G de Valles‐Ibáñez, M Pendziwiat, A Knaus, K Alt, E Biamino, ...
Epilepsia 63 (4), 974-991, 2022
62022
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
HC Happ, LG Sadleir, M Zemel, G de Valles-Ibáñez, MS Hildebrand, ...
Neurology 100 (6), e603-e615, 2023
52023
Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
G de Valles‐Ibáñez, MS Hildebrand, M Bahlo, C King, M Coleman, ...
Epilepsia open 7 (1), 170-180, 2022
52022
GNB5-related neurodevelopmental disorder
G Poke, LG Sadleir, G Merla, G de Valles-Ibáñez, JR Skinner
32021
New LRBA-mutation in a patient with severe reduction in IgG, IgM and IgA with normal number of B-cells at diagnosis and previously classified as CVID
M Piquer, G de Valles, E González, A Esteve, MA Martín-Mateos, ...
JOURNAL OF CLINICAL IMMUNOLOGY 34, S419-S419, 2014
32014
Selección del alimento en la hormiga argentina, Linepithema humile (Mayr, 1868) Hymenoptera, Formicidae
G Valles-Ibáñez
22009
Genotype and phenotype correlation of PHACTR1-related neurological disorders
Z Xu, L Sadleir, H Goel, X Jiao, Y Niu, Z Zhou, G de Valles-Ibáñez, G Poke, ...
Journal of Medical Genetics, 2024
2024
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
DM Nyaga, MS Hildebrand, G de Valles‐Ibáñez, NF Keenan, Z Ye, ...
Epilepsia Open, 2023
2023
Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy
HC Happ, LG Sadleir, M Zemel, G de Valles-Ibáñez, MS Hildebrand, ...
medRxiv, 2022.04. 26.22274147, 2022
2022
Evolutionary analysis of the genome load of loss-of-function variants and their contribution to immunodeficiencies
G Valles Ibáñez
Universitat Pompeu Fabra, 2018
2018
Comparing 3 patients initially classified as CVID, which, sharing phenotypic elements, have different genetic basis: LRBA, PI3KR1 and CTLA-4 deficiencies
A Llobell, M Piquer, G De Valles, A Esteve-Sole, E Gonzalez, ...
EUROPEAN JOURNAL OF IMMUNOLOGY 46, 1259-1259, 2016
2016
Epilepsia Brief Communication
LG Sadleir, G de Valles-Ibáñez, C King, M Coleman, S Mossman, ...
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Articles 1–20