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Mohr, Sandra [Author]; Fritz, Nikola [Author]; Hammer, Christian [Author]; Martínez, Cristina [Author]; Berens, Sabrina [Author]; Schmitteckert, Stefanie [Author]; Wahl, Verena [Author]; Schmidt, Malin [Author]; Houghton, Lesley A. [Author]; Goebel-Stengel, Miriam [Author]; Kabisch, Maria [Author]; Götze, Dorothea [Author]; Milovač, Irina [Author]; D’Amato, Mauro [Author]; Zheng, Tenghao [Author]; Röth, Ralph [Author]; Mönnikes, Hubert [Author]; Engel, Felicitas [Author]; Gauss, Annika [Author]; Tesarz, Jonas [Author]; Raithel, Martin [Author]; Andresen, Viola [Author]; Frieling, Thomas [Author]; Keller, Jutta [Author]; [...]

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

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August 2021

Published in: Journal of cellular and molecular medicine ; 25(2021), 16 vom: Aug., Seite 8047-8061
Rabionet, Raquel

Lack of Association Between Autism and SLC25A12

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American Psychiatric Association Publishing, 2006

Published in: American Journal of Psychiatry, 163 (2006) 5, Seite 929
Escaramís, Geòrgia; Docampo, Elisa; Rabionet, Raquel

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

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Oxford University Press (OUP), 2015

Published in: Briefings in Functional Genomics, 14 (2015) 5, Seite 305-314
Rabionet, Raquel; Espinosa-Parrilla, Yolanda; Estivill, Xavier

Human genetics branches out in Barcelona

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Springer Science and Business Media LLC, 2008

Published in: Genome Biology, 9 (2008) 8, Seite 318
Rabionet, Raquel; Gasparini, Paolo; Estivill, Xavier

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

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Hindawi Limited, 2000

Published in: Human Mutation, 16 (2000) 3, Seite 190-202
Rabionet, Raquel; Gasparini, Paolo; Estivill, Xavier

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

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Hindawi Limited, 2000

Published in: Human Mutation, 16 (2000) 3, Seite 190
Garcia-Giralt, Natalia; Ovejero, Diana; Grinberg, Daniel; Nogues, Xavier; Castañeda, Santos; Balcells, Susanna; Rabionet, Raquel

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

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Springer Science and Business Media LLC, 2024

Published in: Human Genomics, 18 (2024) 1
Balcells, Susana; Martínez-Gil, Núria; Patiño-Salazar, Juan David; Rabionet, Raquel; Grinberg, Daniel

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

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ARAN Ediciones, 2023

Published in: Revista de Osteoporosis y Metabolismo Mineral (2023)
Ugartondo, Nerea; Esteve, Monica; Garcia-Giralt, Natalia; Martinez-Gil, Nuria; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susanna

Functional characterization of CYP1A1 variants identified in patients who sustained bisphosphonate-related atypical femoral fractures

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Elsevier BV, 2021

Published in: Bone Reports, 14 (2021), Seite 100935
Aigner, Johanna; Villatoro, Sergi; Rabionet, Raquel; Roquer, Jaume; Jiménez-Conde, Jordi; Martí, Eulàlia; Estivill, Xavier

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

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Springer Science and Business Media LLC, 2013

Published in: BMC Genetics, 14 (2013) 1
Rabionet, Raquel; Morales-Peralta, Estela; López-Bigas, Núria; Arbonés, Maria Lourdes; Estivill, Xavier

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

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FapUNIFESP (SciELO), 2006

Published in: Genetics and Molecular Biology, 29 (2006) 3, Seite 443-445
Thönnissen, Eva; Rabionet, Raquel; Arbonès, Maria; Estivill, Xavier; Willecke, Klaus; Ott, Thomas

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

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Springer Science and Business Media LLC, 2002

Published in: Human Genetics, 111 (2002) 2, Seite 190-197
Alemany-Navarro, María; Cruz, Raquel; Real, Eva; Segalàs, Cinto; Bertolín, Sara; Rabionet, Raquel; Carracedo, Ángel; Menchón, Jose M.; Alonso, Pino

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

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Springer Science and Business Media LLC, 2020

Published in: Translational Psychiatry, 10 (2020) 1
Álvarez-Mora, María Isabel; Sánchez, Aurora; Rodríguez-Revenga, Laia; Corominas, Jordi; Rabionet, Raquel; Puig, Susana; Madrigal, Irene

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

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Springer Science and Business Media LLC, 2022

Published in: Orphanet Journal of Rare Diseases, 17 (2022) 1
Gil, Núria Martinez; Mellibovsky, Leonardo; Gonzalez, Demian Manzano-Lopez; Patiño, Juan David; Cozar, Monica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susanna

On the association between Chiari malformation type 1, bone mineral density and bone related genes

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Elsevier BV, 2022

Published in: Bone Reports, 16 (2022), Seite 101543
Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián; Patiño, Juan David; Cozar, Monica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susanna

On the association between Chiari malformation type 1, bone mineral density and bone related genes

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Elsevier BV, 2022

Published in: Bone Reports, 16 (2022), Seite 101181
Urreizti, Roser; Gürsoy, Semra; Castilla‐Vallmanya, Laura; Cunill, Guillem; Rabionet, Raquel; Erçal, Derya; Grinberg, Daniel; Balcells, Susana

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

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Wiley, 2018

Published in: Clinical Case Reports, 6 (2018) 8, Seite 1452-1456
Petersen, Britt-Sabina; Spehlmann, Martina E; Raedler, Andreas; Stade, Björn; Thomsen, Ingo; Rabionet, Raquel; Rosenstiel, Philip; Schreiber, Stefan; Franke, Andre

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

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Springer Science and Business Media LLC, 2014

Published in: BMC Genomics, 15 (2014) 1, Seite 564
Docampo, Elisa; Collado, Antonio; Escaramís, Geòrgia; Carbonell, Jordi; Rivera, Javier; Vidal, Javier; Alegre, José; Rabionet, Raquel; Estivill, Xavier

Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups

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Public Library of Science (PLoS), 2013

Published in: PLoS ONE, 8 (2013) 9, Seite e74873
Armengol, Lluís; Villatoro, Sergi; González, Juan R.; Pantano, Lorena; García-Aragonés, Manel; Rabionet, Raquel; Cáceres, Mario; Estivill, Xavier

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

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Public Library of Science (PLoS), 2009

Published in: PLoS ONE, 4 (2009) 9, Seite e7230

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