Works by Rabionet, Raquel

Results: 40

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Published in:

Osteoporosis International, 2025, v. 36, n. 3, p. 555, doi. 10.1007/s00198-024-07382-0

By:

Ovejero, Diana;
Garcia-Giralt, Natalia;
Patiño-Salazar, Juan David;
Rabionet, Raquel;
Nogués, Xavier

Publication type:

Article

Variants at APOE influence risk of deep and lobar intracerebral hemorrhage.

Published in:

Annals of Neurology, 2010, v. 68, n. 6, p. 934, doi. 10.1002/ana.22134

By:

Biffi, Alessandro;
Sonni, Akshata;
Anderson, Christopher D.;
Kissela, Brett;
Jagiella, Jeremiasz M.;
Schmidt, Helena;
Jimenez-Conde, Jordi;
Hansen, Björn M.;
Fernandez-Cadenas, Israel;
Cortellini, Lynelle;
Ayres, Alison;
Schwab, Kristin;
Juchniewicz, Karol;
Urbanik, Andrzej;
Rost, Natalia S.;
Viswanathan, Anand;
Seifert-Held, Thomas;
Stoegerer, Eva-Maria;
Tomás, Marta;
Rabionet, Raquel

Publication type:

Article

Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 564, doi. 10.1186/1471-2164-15-564

By:

Petersen, Britt-Sabina;
Spehlmann, Martina E;
Raedler, Andreas;
Stade, Björn;
Thomsen, Ingo;
Rabionet, Raquel;
Rosenstiel, Philip;
Schreiber, Stefan;
Franke, Andre

Publication type:

Article

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Published in:

Human Genetics, 2002, v. 111, n. 2, p. 190, doi. 10.1007/s00439-002-0750-2

By:

Thönnissen, Eva;
Rabionet, Raquel;
Arbonès, Maria;
Estivill, Xavier;
Willecke, Klaus;
Ott, Thomas

Publication type:

Article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007

By:

Rabionet, Raquel;
Zelante, Leopoldo;
López-Bigas, Núria;
D'Agruma, Leonardo;
Melchionda, Salvatore;
Restagno, Gabrielle;
Arbonés, Maria Lourdes;
Gasparini, Paolo;
Estivill, Xavier

Publication type:

Article

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612

By:

Grifa, Anna;
Wagner, Carsten A.;
D'Ambrosio, Lucrezia;
Melchionda, Salvatore;
Bernardi, Francesco;
Lopez-Bigas, Nuria;
Rabionet, Raquel;
Arbones, Mariona;
Monica, Matteo Della;
Estivill, Xavier;
Zelante, Leopoldo;
Lang, Florian;
Gasparini, Paolo

Publication type:

Article

High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome.

Published in:

Journal of Clinical Laboratory Analysis, 2023, v. 37, n. 23/24, p. 1, doi. 10.1002/jcla.24982

By:

Blanco, Gonzalo;
López-Aventín, Daniel;
Pujol, Ramon M.;
Gómez-Llonín, Andrea;
Puiggros, Anna;
López-Sánchez, Manuela;
Estrach, Teresa;
García-Muret, Mariya Pilar;
Servitje, Octavio;
Bellosillo, Beatriz;
Muro, Manuel;
Espinet, Blanca;
Rabionet, Raquel;
Gallardo, Fernando;
López-Lerma, Ingrid

Publication type:

Article

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

Published in:

Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6

By:

Wattenhofer, Marie;
Di Iorio, Mario;
Rabionet, Raquel;
Dougherty, Loretta;
Pampanos, Andreas;
Schwede, Torsten;
Montserrat-Sentis, Barbara;
Arbones, Maria;
Iliades, Theofilos;
Pasquadibisceglie, Annamaria;
D'Amelio, Marcello;
Alwan, Sura;
Rossier, Colette;
Dahl, Hans-Henrik M.;
Petersen, Michael B.;
Estivill, Xavier;
Gasparini, Paolo;
Scott, Hamish S.;
Antonarakis, Stylianos E.

Publication type:

Article

A decade of structural variants: description, history and methods to detect structural variation.

Published in:

Briefings in Functional Genomics, 2015, v. 14, n. 5, p. 305, doi. 10.1093/bfgp/elv014

By:

Escaramís, Geòrgia;
Docampo, Elisa;
Rabionet, Raquel

Publication type:

Article

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00652-2

By:

Garcia-Giralt, Natalia;
Ovejero, Diana;
Grinberg, Daniel;
Nogues, Xavier;
Castañeda, Santos;
Balcells, Susanna;
Rabionet, Raquel

Publication type:

Article

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772

By:

Bosio, Mattia;
Drechsel, Oliver;
Rahman, Rubayte;
Muyas, Francesc;
Rabionet, Raquel;
Bezdan, Daniela;
Domenech Salgado, Laura;
Hor, Hyun;
Schott, Jean‐Jacques;
Munell, Francina;
Colobran, Roger;
Macaya, Alfons;
Estivill, Xavier;
Ossowski, Stephan

Publication type:

Article

Allele balance bias identifies systematic genotyping errors and false disease associations.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 115, doi. 10.1002/humu.23674

By:

Muyas, Francesc;
Bosio, Mattia;
Puig, Anna;
Susak, Hana;
Domènech, Laura;
Escaramis, Georgia;
Zapata, Luis;
Demidov, German;
Estivill, Xavier;
Rabionet, Raquel;
Ossowski, Stephan

Publication type:

Article

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 190, doi. 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I

By:

Rabionet, Raquel;
Gasparini, Paolo;
Estivill, Xavier

Publication type:

Article

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 ( GJB3) gene.

Published in:

Human Mutation, 2000, v. 15, n. 5, p. 481, doi. 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7

By:

López-Bigas, Núria;
Rabionet, Raquel;
Martínez, Elisabeth;
Banchs, Isabel;
Volpini, Víctor;
Vance, Jeffery M.;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 520, doi. 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K

By:

López-Bigas, Núria;
Rabionet, Raquel;
de Cid, Rafael;
Govea, Nancy;
Gasparini, Paolo;
Zelante, Leopoldo;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

Published in:

JBMR Plus, 2022, v. 6, n. 4, p. 1, doi. 10.1002/jbm4.10602

By:

Martínez‐Gil, Núria;
Ovejero, Diana;
Garcia‐Giralt, Natalia;
Bruque, Carlos David;
Mellibovsky, Leonardo;
Nogués, Xavier;
Rabionet, Raquel;
Grinberg, Daniel;
Balcells, Susanna

Publication type:

Article

Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era.

Published in:

Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (English edition), 2023, v. 15, n. 1, p. 29, doi. 10.20960/RevOsteoporosMetabMiner.00008

By:

Martínez-Gil, Núria;
David Patiño-Salazar, Juan;
Rabionet, Raquel;
Grinberg, Daniel;
Balcells, Susanna

Publication type:

Article

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40874-2

By:

Rabionet, Raquel;
Remesal, Agustín;
Mensa-Vilaró, Anna;
Murías, Sara;
Alcobendas, Rosa;
González-Roca, Eva;
Ruiz-Ortiz, Estibaliz;
Antón, Jordi;
Iglesias, Estibaliz;
Modesto, Consuelo;
Comas, David;
Puig, Anna;
Drechsel, Oliver;
Ossowski, Stephan;
Yagüe, Jordi;
Merino, Rosa;
Estivill, Xavier;
Arostegui, Juan I.

Publication type:

Article

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.

Published in:

BMC Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2156-14-61

By:

Aigner, Johanna;
Villatoro, Sergi;
Rabionet, Raquel;
Roquer, Jaume;
Jiménez-Conde, Jordi;
Martí, Eulàlia;
Estivill, Xavier

Publication type:

Article

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome.

Published in:

2018

By:

Urreizti, Roser;
Gürsoy, Semra;
Castilla‐Vallmanya, Laura;
Cunill, Guillem;
Rabionet, Raquel;
Erçal, Derya;
Grinberg, Daniel;
Balcells, Susana

Publication type:

Case Study

Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study.

Published in:

Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0804-z

By:

Alemany-Navarro, María;
Cruz, Raquel;
Real, Eva;
Segalàs, Cinto;
Bertolín, Sara;
Rabionet, Raquel;
Carracedo, Ángel;
Menchón, Jose M.;
Alonso, Pino

Publication type:

Article

Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach.

Published in:

Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0410-0

By:

Alemany-Navarro, María;
Costas, Javier;
Real, Eva;
Segalàs, Cinto;
Bertolín, Sara;
Domènech, Laura;
Rabionet, Raquel;
Carracedo, Ángel;
Menchón, Jose M.;
Alonso, Pino

Publication type:

Article

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05480-9

By:

Domènech, Laura;
Willis, Jesse;
Alemany-Navarro, Maria;
Morell, Marta;
Real, Eva;
Escaramís, Geòrgia;
Bertolín, Sara;
Sánchez Chinchilla, Daniel;
Balcells, Susanna;
Segalàs, Cinto;
Estivill, Xavier;
Menchón, Jose M.;
Gabaldón, Toni;
Alonso, Pino;
Rabionet, Raquel

Publication type:

Article

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7395, doi. 10.3390/ijms22147395

By:

Ugartondo, Nerea;
Martínez-Gil, Núria;
Esteve, Mònica;
Garcia-Giralt, Natàlia;
Roca-Ayats, Neus;
Ovejero, Diana;
Nogués, Xavier;
Díez-Pérez, Adolfo;
Rabionet, Raquel;
Grinberg, Daniel;
Balcells, Susanna

Publication type:

Article

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1549, doi. 10.3390/ijms22041549

By:

Castilla-Vallmanya, Laura;
Gürsoy, Semra;
Giray-Bozkaya, Özlem;
Prat-Planas, Aina;
Bullich, Gemma;
Matalonga, Leslie;
Centeno-Pla, Mónica;
Rabionet, Raquel;
Grinberg, Daniel;
Balcells, Susanna;
Urreizti, Roser

Publication type:

Article

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.

Published in:

PLoS Computational Biology, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pcbi.1007784

By:

Susak, Hana;
Serra-Saurina, Laura;
Demidov, German;
Rabionet, Raquel;
Domènech, Laura;
Bosio, Mattia;
Muyas, Francesc;
Estivill, Xavier;
Escaramís, Geòrgia;
Ossowski, Stephan

Publication type:

Article

Estudios de asociación de genoma completo (GWAS) versus validación funcional: reto de la era post-GWAS.

Published in:

Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (Spanish edition), 2023, v. 15, n. 1, p. 29, doi. 10.20960/RevOsteoporosMetabMiner.000008

By:

Martínez-Gil, Núria;
Patiño-Salazar, Juan David;
Rabionet, Raquel;
Grinberg, Daniel;
Balcells, Susanna

Publication type:

Article

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3067

By:

Miñones-Moyano, Elena;
Porta, Sílvia;
Escaramís, Georgia;
Rabionet, Raquel;
Iraola, Susana;
Kagerbauer, Birgit;
Espinosa-Parrilla, Yolanda;
Ferrer, Isidre;
Estivill, Xavier;
Martí, Eulàlia

Publication type:

Article

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.

Published in:

Clinical Genetics, 1999, v. 55, n. 5, p. 382, doi. 10.1034/j.1399-0004.1999.550515.x

By:

Antoniadi, Thalia;
Rabionet, Raquel;
Kroupis, Christos;
Aperis, George A.;
Economides, John;
Petmezakis, Jacob;
Economou-Petersen, Effrosini;
Estivill, Xavier;
Petersen, Michael B.

Publication type:

Article

Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074873

By:

Docampo, Elisa;
Collado, Antonio;
Escaramís, Geòrgia;
Carbonell, Jordi;
Rivera, Javier;
Vidal, Javier;
Alegre, José;
Rabionet, Raquel;
Estivill, Xavier

Publication type:

Article

PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063377

By:

Escaramís, Geòrgia;
Tornador, Cristian;
Bassaganyas, Laia;
Rabionet, Raquel;
Tubio, Jose M. C.;
Martínez-Fundichely, Alexander;
Cáceres, Mario;
Gut, Marta;
Ossowski, Stephan;
Estivill, Xavier

Publication type:

Article

Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups.

Published in:

PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007230

By:

Armengol, Lluís;
Villatoro, Sergi;
González, Juan R.;
Pantano, Lorena;
García-Aragonés, Manel;
Rabionet, Raquel;
Cáceres, Mario;
Estivill, Xavier

Publication type:

Article

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 987, doi. 10.1007/s10875-020-00794-7

By:

Martín-Nalda, Andrea;
Fortuny, Claudia;
Rey, Lourdes;
Bunney, Tom D.;
Alsina, Laia;
Esteve-Solé, Ana;
Bull, Daniel;
Anton, Maria Carmen;
Basagaña, María;
Casals, Ferran;
Deyá, Angela;
García-Prat, Marina;
Gimeno, Ramon;
Juan, Manel;
Martinez-Banaclocha, Helios;
Martinez-Garcia, Juan J;
Mensa-Vilaró, Anna;
Rabionet, Raquel;
Martin-Begue, Nieves;
Rudilla, Francesc

Publication type:

Article

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Published in:

2022

By:

Álvarez-Mora, María Isabel;
Sánchez, Aurora;
Rodríguez-Revenga, Laia;
Corominas, Jordi;
Rabionet, Raquel;
Puig, Susana;
Madrigal, Irene

Publication type:

journal article

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.

Published in:

Neurogenetics, 2010, v. 11, n. 3, p. 291, doi. 10.1007/s10048-009-0228-7

By:

Cukier, Holly;
Rabionet, Raquel;
Konidari, Ioanna;
Rayner-Evans, Melissa;
Baltos, Mary;
Wright, Harry;
Abramson, Ruth;
Martin, Eden;
Cuccaro, Michael;
Pericak-Vance, Margaret;
Gilbert, John

Publication type:

Article

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947

By:

López-Bigas, Núria;
Olivé, Montserrat;
Rabionet, Raquel;
Ben-David, Orit;
Martínez-Matos, Juan Antonio;
Bravo, Olga;
Banchs, Isabel;
Volpini, Victor;
Gasparini, Paolo;
Avraham, Karen B.;
Ferrer, Isidre;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

Connexin 31 ( GJB3 ) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947

By:

López-Bigas, Núria;
Olivé, Montserrat;
Rabionet, Raquel;
Ben-David, Orit;
Martínez-Matos, Juan Antonio;
Bravo, Olga;
Banchs, Isabel;
Volpini, Victor;
Gasparini, Paolo;
Avraham, Karen B.;
Ferrer, Isidre;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Published in:

Genes, 2022, v. 13, n. 1, p. 146, doi. 10.3390/genes13010146

By:

Garcia-Giralt, Natalia;
Roca-Ayats, Neus;
Abril, Josep F;
Martinez-Gil, Nuria;
Ovejero, Diana;
Castañeda, Santos;
Nogues, Xavier;
Grinberg, Daniel;
Balcells, Susanna;
Rabionet, Raquel

Publication type:

Article

High carrier frequency of the 35delG deafness mutation in European populations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 19

By:

Gasparini, Paolo;
Rabionet, Raquel;
Barbujani, Guido;
Melchionda, Salvatore;
Petersen, Michael;
Brøndum-Nielsen, Karen;
Metspalu, Andres;
Oitmaa, Eneli;
Pisano, Marina;
Fortina, Paolo;
Zelante, Leopoldo;
Estivill, Xavier

Publication type:

Article

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

Published in:

Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 6, p. 1061, doi. 10.1038/jcbfm.2012.24

By:

Krug, Tiago;
Gabriel, João Paulo;
Taipa, Ricardo;
Fonseca, Benedita V;
Domingues-Montanari, Sophie;
Fernandez-Cadenas, Israel;
Manso, Helena;
Gouveia, Liliana O;
Sobral, João;
Albergaria, Isabel;
Gaspar, Gisela;
Jiménez-Conde, Jordi;
Rabionet, Raquel;
Ferro, José M;
Montaner, Joan;
Vicente, Astrid M;
Silva, Mário Rui;
Matos, Ilda;
Lopes, Gabriela;
Oliveira, Sofia A

Publication type:

Article