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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0190-9
By:
- Almoguera, Berta;
- Sijie He;
- Corton, Marta;
- Fernandez-San Jose, Patricia;
- Blanco-Kelly, Fiona;
- López-Molina, Maria Isabel;
- García-Sandoval, Blanca;
- del Val, Javier;
- Yiran Guo;
- Lifeng Tian;
- Xuanzhu Liu;
- Liping Guan;
- Torres, Rosa J.;
- Puig, Juan G.;
- Hakonarson, Hakon;
- Xun Xu;
- Keating, Brendan;
- Ayuso, Carmen
Publication type:
Article
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Published in:
2014
By:
- 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
Publication type:
journal article
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8431, doi. 10.3390/ijms23158431
By:
- 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
Publication type:
Article
Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.
Published in:
International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 225, doi. 10.3390/ijms17020225
By:
- Prieto-Pérez, Rocío;
- Almoguera, Berta;
- Cabaleiro, Teresa;
- Hakonarson, Hakon;
- Abad-Santos, Francisco
Publication type:
Article
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133624
By:
- 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
Publication type:
Article
IBC CARe Microarray Allelic Population Prevalences in an American Indian Population.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075080
By:
- Best, Lyle G.;
- Anderson, Cindy M.;
- Saxena, Richa;
- Almoguera, Berta;
- Chandrupatla, Hareesh;
- Martin, Candelaria;
- Falcon, Gilbert;
- Keplin, Kylie;
- Pearson, Nichole;
- Keating, Brendan J.
Publication type:
Article
Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071231
By:
- 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.
Publication type:
Article
Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations.
Published in:
PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0050198
By:
- Elbers, Clara C.;
- Yiran Guo;
- Tragante, Vinicius;
- van Iperen, Erik P. A.;
- Lanktree, Matthew B.;
- Castillo, Berta Almoguera;
- Fang Chen;
- Yanek, Lisa R.;
- Wojczynski, Mary K.;
- Li, Yun R.;
- Ferwerda, Bart;
- Ballantyne, Christie M.;
- Buxbaum, Sarah G.;
- Yii-Der Ida Chen;
- Wei-Min Chen;
- Cupples, L. Adrienne;
- Cushman, Mary;
- Duan, Yanan;
- Duggan, David;
- Evans, Michele K.
Publication type:
Article
DISTROFIAS HEREDITARIAS DE RETINA EN ESPAÑA: TRES DÉCADAS DE ESTUDIO EPIDEMIOLÓGICO, CLÍNICO Y GENÉTICO.
Published in:
Anales de la Real Academia Nacional de Medicina, 2022, v. 139, n. 3, p. 274, doi. 10.32440/ar.2022.139.03.rev08
By:
- Perea-Romero, Irene;
- Fernández-Caballero, Lidia;
- Iancu, Ionut F.;
- Rodilla, Cristina;
- Martín-Mérida, Inmaculada;
- Ávila-Fernández, Almudena;
- Almoguera, Berta;
- Riveiro-Álvarez, Rosa;
- Trujillo-Tiebas, María J.;
- Lorda-Sánchez, Isabel;
- Tahsin-Swafiri, Saoud;
- López-Grondona, Fermina;
- Isabel Sánchez, Ana;
- Blanco-Kelly, Fiona;
- del Pozo-Valero, Marta;
- Mínguez, Pablo;
- Millán, J. M.;
- Martín-Gutiérrez, Pilar;
- Jiménez-Rolando, Belén;
- Carreño, Ester
Publication type:
Article
Identification of Four Novel Loci in Asthma in European American and African American Populations.
Published in:
2017
By:
- Almoguera, Berta;
- Vazquez, Lyam;
- Mentch, Frank;
- Connolly, John;
- Pacheco, Jennifer A.;
- Sundaresan, Agnes S.;
- Peissig, Peggy L.;
- Linneman, James G.;
- McCarty, Catherine A.;
- Crosslin, David;
- Carrell, David S.;
- Lingren, Todd;
- Namjou-Khales, Bahram;
- Harley, John B.;
- Larson, Eric;
- Jarvik, Gail P.;
- Brilliant, Murray;
- Williams, Marc S.;
- Kullo, Iftikhar J.;
- Hysinger, Erik B.
Publication type:
journal article
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00278-6
By:
- 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
Publication type:
Article
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00188-7
By:
- 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
Publication type:
Article
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00182-z
By:
- 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
Publication type:
Article
Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study.
Published in:
Andrology, 2023, v. 11, n. 1, p. 24, doi. 10.1111/andr.13339
By:
- 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
Publication type:
Article
Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.
Published in:
Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00096
By:
- Almoguera, Berta;
- Vazquez, Lyam;
- Connolly, John J.;
- Bradfield, Jonathan;
- Sleiman, Patrick;
- Keating, Brendan;
- Hakonarson, Hakon
Publication type:
Article
Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients.
Published in:
European Heart Journal, 2012, v. 33, n. 3, p. 346, doi. 10.1093/eurheartj/ehr280
By:
- Gallardo, M. Esther;
- García-Pavía, Pablo;
- Chamorro, Raquel;
- Vázquez, María E.;
- Gómez-Bueno, Manuel;
- Millán, Isabel;
- Almoguera, Berta;
- Domingo, Verónica;
- Segovia, Javier;
- Vilches, Carlos;
- Alonso-Pulpón, Luis;
- Garesse, Rafael;
- Bornstein, Belén
Publication type:
Article
Genome‐wide association analysis of psoriasis patients treated with anti‐TNF drugs.
Published in:
Experimental Dermatology, 2020, v. 29, n. 12, p. 1225, doi. 10.1111/exd.14215
By:
- 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
Publication type:
Article
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 448, doi. 10.1111/cge.14306
By:
- 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
Publication type:
Article
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome.
Published in:
Clinical Genetics, 2022, v. 102, n. 6, p. 517, doi. 10.1111/cge.14206
By:
- 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
Publication type:
Article
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Published in:
2021
By:
- Perea-Romero, Irene;
- Gordo, Gema;
- Iancu, Ionut F.;
- Del Pozo-Valero, Marta;
- Almoguera, Berta;
- Blanco-Kelly, Fiona;
- Carreño, Ester;
- Jimenez-Rolando, Belen;
- Lopez-Rodriguez, Rosario;
- Lorda-Sanchez, Isabel;
- Martin-Merida, Inmaculada;
- Pérez de Ayala, Lucia;
- Riveiro-Alvarez, Rosa;
- Rodriguez-Pinilla, Elvira;
- Tahsin-Swafiri, Saoud;
- Trujillo-Tiebas, Maria J.;
- The ESRETNET Study Group;
- Bustamante-Aragones, Ana;
- Cardero-Merlo, Rocio;
- Fernandez-Sanchez, Ruth
Publication type:
Correction Notice
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81093-y
By:
- Perea-Romero, Irene;
- Gordo, Gema;
- Iancu, Ionut F.;
- Del Pozo-Valero, Marta;
- Almoguera, Berta;
- Blanco-Kelly, Fiona;
- Carreño, Ester;
- Jimenez-Rolando, Belen;
- Lopez-Rodriguez, Rosario;
- Lorda-Sanchez, Isabel;
- Martin-Merida, Inmaculada;
- Pérez de Ayala, Lucia;
- Riveiro-Alvarez, Rosa;
- Rodriguez-Pinilla, Elvira;
- Tahsin-Swafiri, Saoud;
- Trujillo-Tiebas, Maria J.;
- The ESRETNET Study Group;
- Bustamante-Aragones, Ana;
- Cardero-Merlo, Rocio;
- Fernandez-Sanchez, Ruth
Publication type:
Article
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85182-w
By:
- Arteche-López, A.;
- Ávila-Fernández, A.;
- Romero, R.;
- Riveiro-Álvarez, R.;
- López-Martínez, M. A.;
- Giménez-Pardo, A.;
- Vélez-Monsalve, C.;
- Gallego-Merlo, J.;
- García-Vara, I.;
- Almoguera, Berta;
- Bustamante-Aragonés, A.;
- Blanco-Kelly, F.;
- Tahsin-Swafiri, S.;
- Rodríguez-Pinilla, E.;
- Minguez, P.;
- Lorda, I.;
- Trujillo-Tiebas, M. J.;
- Ayuso, C.
Publication type:
Article
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81093-y
By:
- Perea-Romero, Irene;
- Gordo, Gema;
- Iancu, Ionut F.;
- Del Pozo-Valero, Marta;
- Almoguera, Berta;
- Blanco-Kelly, Fiona;
- Carreño, Ester;
- Jimenez-Rolando, Belen;
- Lopez-Rodriguez, Rosario;
- Lorda-Sanchez, Isabel;
- Martin-Merida, Inmaculada;
- Pérez de Ayala, Lucia;
- Riveiro-Alvarez, Rosa;
- Rodriguez-Pinilla, Elvira;
- Tahsin-Swafiri, Saoud;
- Trujillo-Tiebas, Maria J.;
- The ESRETNET Study Group;
- Bustamante-Aragones, Ana;
- Cardero-Merlo, Rocio;
- Fernandez-Sanchez, Ruth
Publication type:
Article
Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 16, p. 3394
By:
- Ganesh, Santhi K.;
- Tragante, Vinicius;
- Guo, Wei;
- Guo, Yiran;
- Lanktree, Matthew B.;
- Smith, Erin N.;
- Johnson, Toby;
- Castillo, Berta Almoguera;
- Barnard, John;
- Baumert, Jens;
- Chang, Yen-Pei Christy;
- Elbers, Clara C.;
- Farrall, Martin;
- Fischer, Mary E.;
- Franceschini, Nora;
- Gaunt, Tom R.;
- Gho, Johannes M.I.H.;
- Gieger, Christian;
- Gong, Yan;
- Isaacs, Aaron
Publication type:
Article
Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1663
By:
- Ganesh, Santhi K.;
- Tragante, Vinicius;
- Guo, Wei;
- Guo, Yiran;
- Lanktree, Matthew B.;
- Smith, Erin N.;
- Johnson, Toby;
- Castillo, Berta Almoguera;
- Barnard, John;
- Baumert, Jens;
- Chang, Yen-Pei Christy;
- Elbers, Clara C.;
- Farrall, Martin;
- Fischer, Mary E.;
- Franceschini, Nora;
- Gaunt, Tom R.;
- Gho, Johannes M.I.H.;
- Gieger, Christian;
- Gong, Yan;
- Isaacs, Aaron
Publication type:
Article
Drug‐resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.
Published in:
Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 169, doi. 10.1111/ane.13115
By:
- Almoguera, Berta;
- McGinnis, Emily;
- Abrams, Debra;
- Vazquez, Lyam;
- Cederquist, Anna;
- Sleiman, Patrick M.;
- Dlugos, Dennis;
- Hakonarson, Hakon;
- Cagan, Andrew;
- Connolly, John;
- Gainer, Vivian S;
- Garifallou, James;
- Kaminski, Courtney;
- Lee, Yvonne C.;
- Mafra, Fernanda;
- Mentch, Frank;
- Pellegrino, Renata;
- Qiu, Haijun;
- Snyder, James;
- Tian, Lifeng
Publication type:
Article
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Published in:
Genes, 2023, v. 14, n. 9, p. 1664, doi. 10.3390/genes14091664
By:
- Pascual, Patricia;
- Tenorio-Castano, Jair;
- Mignot, Cyril;
- Afenjar, Alexandra;
- Arias, Pedro;
- Gallego-Zazo, Natalia;
- Parra, Alejandro;
- Miranda, Lucia;
- Cazalla, Mario;
- Silván, Cristina;
- Heron, Delphine;
- Keren, Boris;
- Popa, Ioana;
- Palomares, María;
- Rikeros, Emi;
- Ramos, Feliciano J.;
- Almoguera, Berta;
- Ayuso, Carmen;
- Swafiri, Saoud Tahsin;
- Barbero, Ana Isabel Sánchez
Publication type:
Article
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.
Published in:
Genes, 2021, v. 12, n. 9, p. 1360, doi. 10.3390/genes12091360
By:
- 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
Publication type:
Article
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Published in:
Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738
By:
- Tenorio-Castaño, Jair;
- Morte, Beatriz;
- Nevado, Julián;
- Martinez-Glez, Víctor;
- Santos-Simarro, Fernando;
- García-Miñaúr, Sixto;
- Palomares-Bralo, María;
- Pacio-Míguez, Marta;
- Gómez, Beatriz;
- Arias, Pedro;
- Alcochea, Alba;
- Carrión, Juan;
- Arias, Patricia;
- Almoguera, Berta;
- López-Grondona, Fermina;
- Lorda-Sanchez, Isabel;
- Galán-Gómez, Enrique;
- Valenzuela, Irene;
- Méndez Perez, María Pilar;
- Cuscó, Ivón
Publication type:
Article
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Published in:
2016
By:
- Van Driest, Sara L.;
- Wells, Quinn S.;
- Stallings, Sarah;
- Bush, William S.;
- Gordon, Adam;
- Nickerson, Deborah A.;
- Kim, Jerry H.;
- Crosslin, David R.;
- Jarvik, Gail P.;
- Carrell, David S.;
- Ralston, James D.;
- Larson, Eric B.;
- Bielinski, Suzette J.;
- Olson, Janet E.;
- Zi Ye;
- Kullo, Iftikhar J.;
- Abul-Husn, Noura S.;
- Scott, Stuart A.;
- Bottinger, Erwin;
- Almoguera, Berta
Publication type:
journal article
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.
Published in:
BMC Medical Genetics, 2011, v. 12, n. 1, p. 81, doi. 10.1186/1471-2350-12-81
By:
- 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
Publication type:
Article

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