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Almoguera Castillo, Berta [Author]

Utilidad de la farmacogenética para predecir la eficacia y seguridad de la risperidona en el tratamiento de esquizofrenia

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http://hdl.handle.net/10486/6784

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[Erscheinungsort nicht ermittelbar]: [Verlag nicht ermittelbar], 2014
Cruz, Raquel [Author]; Diz-de Almeida, Silvia [Author]; Heredia, Miguel López de [Author]; Quintela, Inés [Author]; Ceballos, Francisco C. [Author]; Pita, Guillermo [Author]; Lorenzo-Salazar, José M. [Author]; González-Montelongo, Rafaela [Author]; Gago-Domínguez, Manuela [Author]; Porras, Marta Sevilla [Author]; Castaño, Jair Antonio Tenorio [Author]; Nevado, Julian [Author]; Aguado, Jose Maria [Author]; Aguilar, Carlos [Author]; Aguilera-Albesa, Sergio [Author]; Almadana, Virginia [Author]; Almoguera, Berta [Author]; Alvarez, Nuria [Author]; Andreu-Bernabeu, Álvaro [Author]; Arana-Arri, Eunate [Author]; Arango, Celso [Author]; Arranz, María J. [Author]; Artiga, Maria-Jesus [Author]; Baptista-Rosas, Raúl C. [Author]; [...]

Novel genes and sex differences in COVID-19 severity

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2022

Published in: Human molecular genetics ; 31(2022), 22, Seite 3789-3806
Prieto-Pérez, Rocío; Almoguera, Berta; Cabaleiro, Teresa; Hakonarson, Hakon; Abad-Santos, Francisco

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

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MDPI AG, 2016

Published in: International Journal of Molecular Sciences
Sleiman, Patrick; Bradfield, Jonathan; Mentch, Frank; Almoguera, Berta; Connolly, John; Hakonarson, Hakon

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

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Frontiers Media SA, 2014

Published in: Frontiers in Genetics
Almoguera, Berta; Vazquez, Lyam; Connolly, John J.; Bradfield, Jonathan; Sleiman, Patrick; Keating, Brendan; Hakonarson, Hakon

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

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Frontiers Media SA, 2014

Published in: Frontiers in Genetics
Connolly, John J.; Glessner, Joseph T.; Almoguera, Berta; Crosslin, David R.; Jarvik, Gail P.; Sleiman, Patrick M.; Hakonarson, Hakon

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

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Frontiers Media SA, 2014

Published in: Frontiers in Genetics
Best, Lyle G.; Anderson, Cindy M.; Saxena, Richa; Almoguera, Berta; Chandrupatla, Hareesh; Martin, Candelaria; Falcon, Gilbert; Keplin, Kylie; Pearson, Nichole; Keating, Brendan J.

IBC CARe Microarray Allelic Population Prevalences in an American Indian Population

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Public Library of Science (PLoS), 2013

Published in: PLoS ONE
Martínez‐Granero, Francisco; Martínez‐Cayuelas, Elena; Rodilla, Cristina; Núñez‐Moreno, Gonzalo; Rodríguez de Alba, Marta; Blanco‐Kelly, Fiona; Romero, Raquel; Minguez, Pablo; Ayuso, Carmen; Lorda‐Sanchez, Isabel; Corton, Marta; Almoguera, Berta

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report

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Wiley, 2023

Published in: Clinical Genetics
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

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

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Wiley, 2022

Published in: Clinical Genetics
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

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 and Genotype-Phenotype Correlation

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MDPI AG, 2021

Published in: Genes
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

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

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Springer Science and Business Media LLC, 2021

Published in: npj Genomic Medicine
Ovejero‐Benito, María C.; Muñoz‐Aceituno, Ester; Sabador, David; Almoguera, Berta; Prieto‐Pérez, Rocío; Hakonarson, Hakon; Coto‐Segura, Pablo; Carretero, Gregorio; Reolid, Alejandra; Llamas‐Velasco, Mar; Abad‐Santos, Francisco; Daudén, Esteban

Genome‐wide association analysis of psoriasis patients treated with anti‐TNF drugs

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Wiley, 2020

Published in: Experimental Dermatology
Almoguera, Berta; Vazquez, Lyam; Mentch, Frank; March, Michael E.; Connolly, John J.; Peissig, Peggy L.; Linneman, James G.; Plaza-Serón, María del Carmen; Pino-Yanes, Maria; Burchard, Esteban G.; Brilliant, Murray; Sleiman, Patrick; Hakonarson, Hakon

Novel locus for atopic dermatitis in African Americans and replication in European Americans

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Elsevier BV, 2019

Published in: Journal of Allergy and Clinical Immunology
Martin-Merida, Inmaculada; Aguilera-Garcia, Domingo; Jose, Patricia Fernandez-San; Blanco-Kelly, Fiona; Zurita, Olga; Almoguera, Berta; Garcia-Sandoval, Blanca; Avila-Fernandez, Almudena; Arteche, Ana; Minguez, Pablo; Carballo, Miguel; Corton, Marta; Ayuso, Carmen

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

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Association for Research in Vision and Ophthalmology (ARVO), 2018

Published in: Investigative Opthalmology & Visual Science
Martin-Merida, Inmaculada; Sanchez-Alcudia, Rocio; Fernandez-San Jose, Patricia; Blanco-Kelly, Fiona; Perez-Carro, Raquel; Rodriguez-Jacy da Silva, Luciana; Almoguera, Berta; Garcia-Sandoval, Blanca; Lopez-Molina, Maria Isabel; Avila-Fernandez, Almudena; Carballo, Miguel; Corton, Marta; Ayuso, Carmen

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

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Association for Research in Vision and Ophthalmology (ARVO), 2017

Published in: Investigative Opthalmology & Visual Science
Hysinger, Erik B.; Roizen, Jeffrey D.; Mentch, Frank D.; Vazquez, Lyam; Connolly, John J.; Bradfield, Jonathan P.; Almoguera, Berta; Sleiman, Patrick M.; Allen, Julian L.; Levine, Michael A.; Hakonarson, Hakon

Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma

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Elsevier BV, 2016

Published in: Journal of Allergy and Clinical Immunology
Best, Lyle G.; Saxena, Richa; Anderson, Cindy M.; Barnes, Michael R.; Hakonarson, Hakon; Falcon, Gilbert; Martin, Candelaria; Castillo, Berta Almoguera; Karumanchi, Ananth; Keplin, Kylie; Pearson, Nichole; Lamb, Felicia; Bercier, Shellee; Keating, Brendan J.

Correction: Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population

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Public Library of Science (PLoS), 2013

Published in: PLoS ONE
Almoguera, Berta; Riveiro-Alvarez, Rosa; Lopez-Castroman, Jorge; Dorado, Pedro; Vaquero-Lorenzo, Concepción; Fernandez-Piqueras, José; LLerena, Adrián; Abad-Santos, Francisco; Baca-García, Enrique; Dal-Ré, Rafael; Ayuso, Carmen

CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment

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Ovid Technologies (Wolters Kluwer Health), 2013

Published in: Pharmacogenetics and Genomics
Best, Lyle G.; Saxena, Richa; Anderson, Cindy M.; Barnes, Michael R.; Hakonarson, Hakon; Falcon, Gilbert; Martin, Candelaria; Castillo, Berta Almoguera; Karumanchi, Ananth; Keplin, Kylie; Pearson, Nichole; Lamb, Felicia; Bercier, Shellee; Keating, Brendan J.

Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population

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Public Library of Science (PLoS), 2013

Published in: PLoS ONE
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

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

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Springer Science and Business Media LLC, 2011

Published in: BMC Medical Genetics

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