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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum
Author / Creator:Aguilera, Cinthia ; Gabau, Elisabeth ; Ramirez-Mallafré, Ariadna ; Brun-Gasca, Carme ; Dominguez-Carral, Jana ; Delgadillo, Veronica ; Laurie, Steve ; Derdak, Sophia ; Padilla, Natàlia ; de la Cruz, Xavier ; Capdevila, Núria ; Spataro, Nino ; Baena, Neus ; Guitart, Miriam ; Ruiz, Anna
Publisher:United States: Public Library of Science
Journal title:PloS one, 2021-10, Vol.16 (10), p.e0258766-e0258766
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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors
Author / Creator:Martin-Trujillo, Alex ; Vidal, Enrique ; Monteagudo-Sánchez, Ana ; Sanchez-Delgado, Marta ; Moran, Sebastian ; Hernandez Mora, Jose Ramon ; Heyn, Holger ; Guitart, Miriam ; Esteller, Manel ; Monk, David
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-09, Vol.8 (1), p.467-12, Article 467
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High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
Author / Creator:Viñas-Jornet, Marina ; Esteba-Castillo, Susanna ; Baena, Neus ; Ribas-Vidal, Núria ; Ruiz, Anna ; Torrents-Rodas, David ; Gabau, Elisabeth ; Vilella, Elisabet ; Martorell, Lourdes ; Armengol, Lluís ; Novell, Ramon ; Guitart, Míriam
Publisher:New York: Springer US
Journal title:Behavior genetics, 2018-07, Vol.48 (4), p.323-336
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Decline of Sperm Quality over the Last Two Decades in the South of Europe: A Retrospective Study in Infertile Patients
Author / Creator:Garcia-Grau, Emma ; Lleberia, Judith ; Costa, Laura ; Guitart, Miriam ; Yeste, Marc ; Benet, Jordi ; Amengual, María José ; Ribas-Maynou, Jordi
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2022-12, Vol.12 (1), p.70
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The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome
Author / Creator:Aguilera, Cinthia ; Hümmer, Stefan ; Masanas, Marc ; Gabau, Elisabeth ; Guitart, Miriam ; Jeyaprakash, A Arockia ; Segura, Miguel F ; Santamaria, Anna ; Ruiz, Anna
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2021-05, Vol.15, p.618098-618098
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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome
Author / Creator:Baena, Neus ; Monk, David ; Aguilera, Cinthia ; Fraga, Mario F ; Fernández, Agustín F ; Gabau, Elisabeth ; Corripio, Raquel ; Capdevila, Nuria ; Trujillo, Juan Pablo ; Ruiz, Anna ; Guitart, Miriam
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2024-05, Vol.16 (1), p.62-11, Article 62
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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature
Author / Creator:Aguilera, Cinthia ; Viñas-Jornet, Marina ; Baena, Neus ; Gabau, Elisabeth ; Fernández, Concepción ; Capdevila, Nuria ; Cirkovic, Sanja ; Sarajlija, Adrijan ; Miskovic, Marijana ; Radivojevic, Danijela ; Ruiz, Anna ; Guitart, Miriam
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2017-11, Vol.18 (1), p.137-7, Article 137
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Prader-Willi and Angelman syndromes: genetic counseling
Author / Creator:Camprubí, Cristina ; Coll, Maria Dolors ; Gabau, Elisabeth ; Guitart, Míriam
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2010-02, Vol.18 (2), p.154-155
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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
Author / Creator:Brunet, Anna ; Armengol, Lluís ; Heine, Damià ; Rosell, Jordi ; García-Aragonés, Manel ; Gabau, Elisabeth ; Estivill, Xavier ; Guitart, Miriam
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2009-12, Vol.10 (1), p.144-144, Article 144
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Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain
Author / Creator:Hernández-Chico, Concepción ; Pintado, Elizabet ; Rosell, Jordi ; Calvo, María-Teresa ; Ayuso, Carmen ; Ramos-Arroyo, María-Antonia ; Maortua, Hiart ; Milà, Montserrat ; Tejada, María-Isabel ; Ramos, Feliciano J. ; Fernández-Carvajal, Isabel ; de Diego-Otero, Yolanda ; Glover, Guillermo ; Martínez, Francisco ; Guitart, Miriam
Publisher:Cairo, Egypt: Hindawi Puplishing Corporation
Journal title:BioMed research international, 2014-01, Vol.2014 (2014), p.1-8
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Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
Author / Creator:Pujana, Miguel Angel ; Nadal, Marga ; Guitart, Miriam ; Armengol, Lluís ; Gratacòs, Mònica ; Estivill, Xavier
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2002-01, Vol.10 (1), p.26-35
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Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
Author / Creator:Brunet, Anna ; Armengol, Lluís ; Pelaez, Trini ; Guillamat, Roser ; Vallès, Vicenç ; Gabau, Elisabeth ; Estivill, Xavier ; Guitart, Miriam
Publisher:England: BioMed Central Ltd
Journal title:Behavioral and brain functions, 2008-02, Vol.4 (1), p.10-10, Article 10
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Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome
Author / Creator:Bueno, Marta ; Esteba-Castillo, Susanna ; Novell, Ramon ; Giménez-Palop, Olga ; Coronas, Ramon ; Gabau, Elisabeth ; Corripio, Raquel ; Baena, Neus ; Viñas-Jornet, Marina ; Guitart, Míriam ; Torrents-Rodas, David ; Deus, Joan ; Pujol, Jesús ; Rigla, Mercedes ; Caixàs, Assumpta
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-09, Vol.11 (9), p.e0163468-e0163468
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Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
Author / Creator:Thygesen, Johan H. ; Wolfe, Kate ; McQuillin, Andrew ; Viñas-Jornet, Marina ; Baena, Neus ; Brison, Nathalie ; D'Haenens, Greet ; Esteba-Castillo, Susanna ; Gabau, Elisabeth ; Ribas-Vidal, Núria ; Ruiz, Anna ; Vermeesch, Joris ; Weyts, Eddy ; Novell, Ramon ; Buggenhout, Griet Van ; Strydom, André ; Bass, Nick ; Guitart, Miriam ; Vogels, Annick
Publisher:Cambridge, UK: Cambridge University Press
Journal title:British journal of psychiatry, 2018-05, Vol.212 (5), p.287-294
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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders
Author / Creator:Spataro, Nino ; Trujillo-Quintero, Juan Pablo ; Manso, Carmen ; Gabau, Elisabeth ; Capdevila, Nuria ; Martinez-Glez, Victor ; Berenguer-Llergo, Antoni ; Reyes, Sara ; Brunet, Anna ; Baena, Neus ; Guitart, Miriam ; Ruiz, Anna
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-03, Vol.14 (3), p.708
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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors
Author / Creator:Martin-Trujillo, Alejandro ; Vidal, Enrique ; Monteagudo-Sánchez, Ana ; Sanchez-Delgado, Marta ; Moran, Sebastian ; Hernandez Mora, Jose Ramon ; Heyn, Holger ; Guitart, Miriam ; Esteller, Manel ; Monk, David
Publisher:Nature Publishing Group
Journal title:Nature communications, 2017-09
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Author / Creator:Xiol, Clara ; Vidal, Silvia ; Pascual-Alonso, Ainhoa ; Blasco, Laura ; Brandi, Núria ; Pacheco, Paola ; Gerotina, Edgar ; O’Callaghan, Mar ; Pineda, Mercè ; Armstrong, Judith
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-08, Vol.9 (1), p.11983-9, Article 11983
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ArticlesPeer ReviewedFull Text
Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors
Author / Creator:Martin-Trujillo, Alex ; Vidal Ocabo, Enrique ; Monteagudo-Sánchez, Ana ; Sanchez-Delgado, Marta ; Moran, Sebastian ; Hernández Mora, José Ramón ; Heyn, Holger ; Guitart, Miriam ; Esteller, Manel ; Monk, David
Publisher:Nature Publishing Group
Journal title:Nature communications, 2017
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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Author / Creator:Ibarluzea, Nekane ; Hoz, Ana Belén de la ; Villate, Olatz ; Llano, Isabel ; Ocio, Intzane ; Martí, Itxaso ; Guitart, Miriam ; Gabau, Elisabeth ; Andrade, Fernando ; Gener, Blanca ; Tejada, María-Isabel
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-01, Vol.11 (1), p.51
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ArticlesPeer ReviewedFull Text
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Author / Creator:Vidal, Silvia ; Brandi, Núria ; Pacheco, Paola ; Gerotina, Edgar ; Blasco, Laura ; Trotta, Jean-Rémi ; Derdak, Sophia ; del Mar O’Callaghan, Maria ; Garcia-Cazorla, Àngels ; Pineda, Mercè ; Armstrong, Judith
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.18146-18146, Article 18146
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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

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High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

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Decline of Sperm Quality over the Last Two Decades in the South of Europe: A Retrospective Study in Infertile Patients

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The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

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Prader-Willi and Angelman syndromes: genetic counseling

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

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Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

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Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

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Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

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Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome

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Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

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