Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

por Sleiman, Patrick, Bradfield, Jonathan, Mentch, Frank, Almoguera, Berta, Connolly, John, Hakonarson, Hakon
Publicado 2014

Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease

por Prieto-Pérez, Rocío, Almoguera, Berta, Cabaleiro, Teresa, Hakonarson, Hakon, Abad-Santos, Francisco
Publicado 2016

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes

por Almoguera, Berta, Vazquez, Lyam, Connolly, John J., Bradfield, Jonathan, Sleiman, Patrick, Keating, Brendan, Hakonarson, Hakon
Publicado 2014

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

por Connolly, John J., Glessner, Joseph T., Almoguera, Berta, Crosslin, David R., Jarvik, Gail P., Sleiman, Patrick M., Hakonarson, Hakon
Publicado 2014

IBC CARe Microarray Allelic Population Prevalences in an American Indian Population

por Best, Lyle G., Anderson, Cindy M., Saxena, Richa, Almoguera, Berta, Chandrupatla, Hareesh, Martin, Candelaria, Falcon, Gilbert, Keplin, Kylie, Pearson, Nichole, Keating, Brendan J.
Publicado 2013

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

por Popp, Bernt, Bienvenu, Thierry, Giurgea, Irina, Metreau, Julia, Kraus, Cornelia, Reis, André, Fischer, Jan, Bralo, María Palomares, Tenorio‐Castaño, Jair, Lapunzina, Pablo, Almoguera, Berta, Lopez‐Grondona, Fermina, Sticht, Heinrich, Zweier, Christiane
Publicado 2022

ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study

por Almoguera, Berta, Riveiro-Alvarez, Rosa, Lopez-Castroman, Jorge, Dorado, Pedro, Lopez-Rodriguez, Rosario, Fernandez-Navarro, Pablo, Baca-García, Enrique, Fernandez-Piqueras, Jose, Dal-Ré, Rafael, Abad-Santos, Francisco, LLerena, Adrián, Ayuso, Carmen
Publicado 2011

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

por Iancu, Ionut-Florin, Avila-Fernandez, Almudena, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Riveiro-Alvarez, Rosa, Almoguera, Berta, Martin-Merida, Inmaculada, Del Pozo-Valero, Marta, Perea-Romero, Irene, Corton, Marta, Minguez, Pablo, Ayuso, Carmen
Publicado 2021

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

por Garcia-Hoyos, Maria, Auz-Alexandre, Carmen Laura, Almoguera, Berta, Cantalapiedra, Diego, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Gimenez, Ascension, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Trujillo-Tiebas, Maria Jose, Garcia-Sandoval, Blanca, Ramos, Carmen, Ayuso, Carmen
Publicado 2011

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations...

por Sanchez-Jimeno, Carolina, Blanco-Kelly, Fiona, López-Grondona, Fermina, Losada-Del Pozo, Rebeca, Moreno, Beatriz, Rodrigo-Moreno, María, Martinez-Cayuelas, Elena, Riveiro-Alvarez, Rosa, Fenollar-Cortés, María, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Publicado 2021

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

por Del Pozo-Valero, Marta, Corton, Marta, López-Rodríguez, Rosario, Mahillo-Fernández, Ignacio, Ruiz-Hornillos, Javier, Minguez, Pablo, Villaverde, Cristina, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen
Publicado 2022

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

por López-Rodríguez, Rosario, Del Pozo-Valero, Marta, Corton, Marta, Minguez, Pablo, Ruiz-Hornillos, Javier, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Villaverde, Cristina, Núñez-Moreno, Gonzalo, Romero, Raquel, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen
Publicado 2022

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

por Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Publicado 2021

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

por Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo
Publicado 2022

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

por Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Publicado 2014

High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease

por Soria, María Eugenia, Cortón, Marta, Martínez-González, Brenda, Lobo-Vega, Rebeca, Vázquez-Sirvent, Lucía, López-Rodríguez, Rosario, Almoguera, Berta, Mahillo, Ignacio, Mínguez, Pablo, Herrero, Antonio, Taracido, Juan Carlos, Macías-Valcayo, Alicia, Esteban, Jaime, Fernandez-Roblas, Ricardo, Gadea, Ignacio, Ruíz-Hornillos, Javier, Ayuso, Carmen, Perales, Celia
Publicado 2021

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

por Romero, Raquel, de la Fuente, Lorena, Del Pozo-Valero, Marta, Riveiro-Álvarez, Rosa, Trujillo-Tiebas, María José, Martín-Mérida, Inmaculada, Ávila-Fernández, Almudena, Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, Damián, Alejandra, Rodilla, Cristina, Almoguera, Berta, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo
Publicado 2022

Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study

por López‐Rodríguez, Rosario, Ruiz‐Hornillos, Javier, Cortón, Marta, Almoguera, Berta, Minguez, Pablo, Pérez‐Tomás, María Elena, Barreda‐Sánchez, María, Mancebo, Esther, Ondo, Lorena, Martínez‐Ramas, Andrea, Fernández‐Caballero, Lidia, Taracido‐Fernández, Juan Carlos, Herrero‐González, Antonio, Mahillo, Ignacio, Paz‐Artal, Estela, Guillén‐Navarro, Encarna, Ayuso, Carmen
Publicado 2022

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

por Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Publicado 2015

IL-6–based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts

por Utrero-Rico, Alberto, Ruiz-Hornillos, Javier, González-Cuadrado, Cecilia, Rita, Claudia Geraldine, Almoguera, Berta, Minguez, Pablo, Herrero-González, Antonio, Fernández-Ruiz, Mario, Carretero, Octavio, Taracido-Fernández, Juan Carlos, López-Rodriguez, Rosario, Corton, Marta, Aguado, José María, Villar, Luisa María, Ayuso-García, Carmen, Paz-Artal, Estela, Laguna-Goya, Rocio
Publicado 2021