Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 716 | 2021 |
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss A Mencia, S Modamio-Høybjør, N Redshaw, M Morin, F Mayo-Merino, ... Nature genetics 41 (5), 609-613, 2009 | 654 | 2009 |
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing … FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ... Journal of medical genetics 42 (7), 588-594, 2005 | 373 | 2005 |
High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing … A Álvarez, I del Castillo, M Villamar, LA Aguirre, A González‐Neira, ... American Journal of Medical Genetics Part A 137 (3), 255-258, 2005 | 104 | 2005 |
Hypoxia-induced PD-L1/PD-1 crosstalk impairs T-cell function in sleep apnoea C Cubillos-Zapata, J Avendaño-Ortiz, E Hernandez-Jimenez, V Toledano, ... European Respiratory Journal 50 (4), 2017 | 92 | 2017 |
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss AK Huebner, M Gandia, P Frommolt, A Maak, EM Wicklein, H Thiele, ... The American Journal of Human Genetics 88 (5), 621-627, 2011 | 91 | 2011 |
Immune Response and COVID-19: A mirror image of Sepsis E López-Collazo, J Avendano-Ortiz, A Martin-Quiros, LA Aguirre International journal of biological sciences 16 (14), 2479, 2020 | 83 | 2020 |
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→ T mutation in the mitochondrial 12S … M Rodriguez-Ballesteros, M Olarte, LA Aguirre, F Galan, R Galan, ... Journal of Medical Genetics 43 (11), e54-e54, 2006 | 77 | 2006 |
Long-range regulatory interactions at the 4q25 atrial fibrillation risk locus involve PITX2c and ENPEP LA Aguirre, ME Alonso, C Badía-Careaga, I Rollán, C Arias, ... BMC biology 13, 1-13, 2015 | 67 | 2015 |
PD-L1 overexpression during endotoxin tolerance impairs the adaptive immune response in septic patients via HIF1α J Avendaño-Ortiz, C Maroun-Eid, A Martín-Quirós, V Toledano, ... The Journal of infectious diseases 217 (3), 393-404, 2018 | 50 | 2018 |
Monocytes inhibit NK activity via TGF-β in patients with obstructive sleep apnoea E Hernández-Jiménez, C Cubillos-Zapata, V Toledano, RP de Diego, ... European Respiratory Journal 49 (6), 2017 | 47 | 2017 |
Cellular and humoral functional responses after BNT162b2 mRNA vaccination differ longitudinally between naive and subjects recovered from COVID-19 R Lozano-Rodríguez, J Valentín-Quiroga, J Avendaño-Ortiz, ... Cell reports 38 (2), 2022 | 45 | 2022 |
Tumor stem cells fuse with monocytes to form highly invasive tumor-hybrid cells LA Aguirre, K Montalbán-Hernández, J Avendaño-Ortiz, E Marín, ... Oncoimmunology 9 (1), 1773204, 2020 | 34 | 2020 |
PD-L1/PD-1 crosstalk in colorectal cancer: are we targeting the right cells? R Cantero-Cid, J Casas-Martin, E Hernández-Jiménez, C Cubillos-Zapata, ... BMC cancer 18, 1-9, 2018 | 32 | 2018 |
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A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness‐dystonia (Mohr–Tranebjaerg … LA Aguirre, I del Castillo, A Macaya, C Medá, M Villamar, ... American Journal of Medical Genetics Part A 140 (4), 392-397, 2006 | 30 | 2006 |
Obstructive sleep apnea monocytes exhibit high levels of vascular endothelial growth factor secretion, augmenting tumor progression C Cubillos-Zapata, E Hernández-Jiménez, J Avendaño-Ortiz, V Toledano, ... Mediators of Inflammation 2018, 2018 | 25 | 2018 |
Oxygen saturation on admission is a predictive biomarker for PD-L1 expression on circulating monocytes and impaired immune response in patients with sepsis J Avendano-Ortiz, C Maroun-Eid, A Martín-Quirós, R Lozano-Rodríguez, ... Frontiers in Immunology 9, 2008, 2018 | 20 | 2018 |
Proteins from SARS-CoV-2 reduce T cell proliferation: A mirror image of sepsis J Avendaño-Ortiz, R Lozano-Rodríguez, A Martín-Quirós, C Maroun-Eid, ... Heliyon 6 (12), 2020 | 19 | 2020 |
Incidence of histoplasmosis in a cohort of people with HIV: from estimations to reality N Medina, JL Rodriguez-Tudela, L Aguirre, LR Salazar, O Gamboa, ... Microorganisms 9 (12), 2596, 2021 | 18 | 2021 |