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Genetics Medicine

The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.

The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.

Specific research lines and teams include:

  • Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.
  • Genetic and functional evaluation of CFTR pathogenic variants in cystic fibrosis patients treated with modulators. 
  • Genetic bases of mental retardation, CNS malformations and autism spectrum disorders.
  • Epigenetic disorders secondary to alterations in the methylation of chromosomal regions subjected to imprinting.
  • Genetic bases of aortic pathology, RASopathies, 22q11.2 deletions and duplications,  tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders, skeletal dysplasias, cleft lip and palate.
  • Better phenotype delineations and genomic approach of rare and ultra-rare genetic syndromes including fetal pathology and malformations.
  • Development and validation of new tools and strategies for genetic diagnosis.

Team

Marta Garrido Pontnou

Marta Garrido Pontnou

Genetics Medicine
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David Civit  Decabo

David Civit Decabo

Research technician
Genetics Medicine
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Alberto Plaja Rustein

Alberto Plaja Rustein

Genetics Medicine
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Alejandro Moles Fernandez

Alejandro Moles Fernandez

Research technician
Genetics Medicine
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Anna  Abuli  Vidal

Anna Abuli Vidal

Postdoctoral researcher
Genetics Medicine
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Anna Maria Cueto Gonzalez

Anna Maria Cueto Gonzalez

Genetics Medicine
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Marta Garrido Pontnou

Marta Garrido Pontnou

Genetics Medicine
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David Civit  Decabo

David Civit Decabo

Research technician
Genetics Medicine
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Alberto Plaja Rustein

Alberto Plaja Rustein

Genetics Medicine
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Alejandro Moles Fernandez

Alejandro Moles Fernandez

Research technician
Genetics Medicine
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Anna  Abuli  Vidal

Anna Abuli Vidal

Postdoctoral researcher
Genetics Medicine
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Anna Maria Cueto Gonzalez

Anna Maria Cueto Gonzalez

Genetics Medicine
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Research lines

Fetal Alcohol Syndrome

IP: -

Genetic bases of heart diseases

IP: -

Genetic bases of the congenital adrenal hyperplasia

IP: -

Genetic basis of mental retardation, malformations and autism spectrum disorders (ASD)

IP: -

Projects

Ayudas Margarita Salas

IP: Eduardo Fidel Tizzano
Collaborators: Núria Martínez Gil, Miriam Izquierdo Sans
Funding agency: Ministerio de Universidades
Funding: 0.01
Reference: MIU/M_SALAS/2021/MARTÍNEZ_UB
Duration: 01/04/2022 - 31/03/2022

Aproximación genómica en atrofia muscular espinal (AME): estudio de casos especiales de pacientes con AME.5q y caracterización de pacientes con AME-no-5q.

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim
Funding agency: Instituto de Salud Carlos III
Funding: 159720
Reference: PI18/00687
Duration: 01/01/2019 - 30/06/2023

SMA beyond motoneuron degeneration: multi-system aspects - SMABEYOND

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: EUROPEAN COMMISSION
Funding: 215304.88
Reference: SMABEYOND_MSCA-ITN_H2020-2019
Duration: 01/10/2020 - 30/09/2024

Detection of structural genetic factors modifying the phenotype in a population with congenital defects.

IP: Alberto Plaja Rustein
Collaborators: Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding: 123420
Reference: PI20/01767
Duration: 01/01/2021 - 31/12/2023

Estudios funcionales de mutaciones del gen CFTR para establecer una terapia personalizada en pacientes con Fibrosis Quística

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim, Paula Fernández Álvarez, SILVIA GARTNER TIZZANO
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 104213
Reference: MM/XIV/RECERCA/2017/TIZZANO
Duration: 10/10/2017 - 30/09/2021

Caracterización de los Trastornos del Espectro Autista causados por alteraciones en regiones complejas del genoma: Definición molecular y fenotípica

IP: Ivon Cuscó Martín
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 50215
Reference: PI16/00369
Duration: 01/01/2017 - 30/06/2021

Aproximación genómica en atrofia muscular espinal (AME): estudio de casos especiales de pacientes con AME.5q y caracterización de pacientes con AME-no-5q.

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim
Funding agency: Instituto de Salud Carlos III
Funding: 159720
Reference: PI18/00687
Duration: 01/01/2019 - 30/06/2023

SMA beyond motoneuron degeneration: multi-system aspects - SMABEYOND

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: EUROPEAN COMMISSION
Funding: 215304.88
Reference: SMABEYOND_MSCA-ITN_H2020-2019
Duration: 01/10/2020 - 30/09/2024

INFORMACIO PENDENT - Proyecto Asterix sobre atrofia muscular espinal

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: Fundació Privada Daniel Bravo Andreu
Funding: 97125
Reference: FUNDACIÓ PRIVADA DANIEL BRAVO ANDREU - ASTERIX
Duration: 31/03/2016 - 31/05/2020

Estudios funcionales de mutaciones del gen CFTR para establecer una terapia personalizada en pacientes con Fibrosis Quística

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim, Paula Fernández Álvarez, SILVIA GARTNER TIZZANO
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 104213
Reference: MM/XIV/RECERCA/2017/TIZZANO
Duration: 10/10/2017 - 30/09/2021

Caracterización de los Trastornos del Espectro Autista causados por alteraciones en regiones complejas del genoma: Definición molecular y fenotípica

IP: Ivon Cuscó Martín
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 50215
Reference: PI16/00369
Duration: 01/01/2017 - 30/06/2021

Aproximación genómica en atrofia muscular espinal (AME): estudio de casos especiales de pacientes con AME.5q y caracterización de pacientes con AME-no-5q.

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim
Funding agency: Instituto de Salud Carlos III
Funding: 159720
Reference: PI18/00687
Duration: 01/01/2019 - 30/06/2023

INFORMACIO PENDENT - Proyecto Asterix sobre atrofia muscular espinal

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: Fundació Privada Daniel Bravo Andreu
Funding: 97125
Reference: FUNDACIÓ PRIVADA DANIEL BRAVO ANDREU - ASTERIX
Duration: 31/03/2016 - 31/05/2020

Estudios funcionales de mutaciones del gen CFTR para establecer una terapia personalizada en pacientes con Fibrosis Quística

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim, Paula Fernández Álvarez, SILVIA GARTNER TIZZANO
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 104213
Reference: MM/XIV/RECERCA/2017/TIZZANO
Duration: 10/10/2017 - 30/09/2021

Caracterización de los Trastornos del Espectro Autista causados por alteraciones en regiones complejas del genoma: Definición molecular y fenotípica

IP: Ivon Cuscó Martín
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 50215
Reference: PI16/00369
Duration: 01/01/2017 - 30/06/2021

Aproximación genómica en atrofia muscular espinal (AME): estudio de casos especiales de pacientes con AME.5q y caracterización de pacientes con AME-no-5q.

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim
Funding agency: Instituto de Salud Carlos III
Funding: 159720
Reference: PI18/00687
Duration: 01/01/2019 - 30/06/2023

INFORMACIO PENDENT - Proyecto Asterix sobre atrofia muscular espinal

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: Fundació Privada Daniel Bravo Andreu
Funding: 97125
Reference: FUNDACIÓ PRIVADA DANIEL BRAVO ANDREU - ASTERIX
Duration: 31/03/2016 - 31/05/2020

Estudios funcionales de mutaciones del gen CFTR para establecer una terapia personalizada en pacientes con Fibrosis Quística

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim, Paula Fernández Álvarez, SILVIA GARTNER TIZZANO
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 104213
Reference: MM/XIV/RECERCA/2017/TIZZANO
Duration: 10/10/2017 - 30/09/2021

Caracterización de los Trastornos del Espectro Autista causados por alteraciones en regiones complejas del genoma: Definición molecular y fenotípica

IP: Ivon Cuscó Martín
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 50215
Reference: PI16/00369
Duration: 01/01/2017 - 30/06/2021

INFORMACIO PENDENT - Proyecto Asterix sobre atrofia muscular espinal

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: Fundació Privada Daniel Bravo Andreu
Funding: 97125
Reference: FUNDACIÓ PRIVADA DANIEL BRAVO ANDREU - ASTERIX
Duration: 31/03/2016 - 31/05/2020

Estudios funcionales de mutaciones del gen CFTR para establecer una terapia personalizada en pacientes con Fibrosis Quística

IP: Eduardo Fidel Tizzano
Collaborators: Maite Calucho Prim, Paula Fernández Álvarez, SILVIA GARTNER TIZZANO
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 104213
Reference: MM/XIV/RECERCA/2017/TIZZANO
Duration: 10/10/2017 - 30/09/2021

Caracterización de los Trastornos del Espectro Autista causados por alteraciones en regiones complejas del genoma: Definición molecular y fenotípica

IP: Ivon Cuscó Martín
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 50215
Reference: PI16/00369
Duration: 01/01/2017 - 30/06/2021

INFORMACIO PENDENT - Proyecto Asterix sobre atrofia muscular espinal

IP: Eduardo Fidel Tizzano
Collaborators: -
Funding agency: Fundació Privada Daniel Bravo Andreu
Funding: 97125
Reference: FUNDACIÓ PRIVADA DANIEL BRAVO ANDREU - ASTERIX
Duration: 31/03/2016 - 31/05/2020

Estudio multidimensional del espectro de los trastornos relacionados con la exposición prenatal al alcohol

IP: Miguel del Campo Casanelles
Collaborators: Núria Gómez Barros, Carlos Jacas Escarcellé, Susana Boronat Guerero, Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding: 99220
Reference: PI12/02289
Duration: 01/01/2013 - 31/12/2015

Estudio multidimensional del espectro de los trastornos relacionados con la exposición prenatal al alcohol

IP: Miguel del Campo Casanelles
Collaborators: Núria Gómez Barros, Carlos Jacas Escarcellé, Susana Boronat Guerero, Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding: 99220
Reference: PI12/02289
Duration: 01/01/2013 - 31/12/2015

Estada al Massachusetts General Hospital, Boston (EEUU)

IP: Susana Boronat Guerero
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 52000
Reference: BA11/00086
Duration: 07/11/2011 - 06/07/2013

Investigación del papel de las reorganizaciones genómicas en los Defectos Congénitos del Corazón (DGC) y desarrollo de nuevas herramientas de diagnóstico genético prenatal y postnatal

IP: Alberto Plaja Rustein
Collaborators: Maria Ángeles Sánchez Durán, Teresa Vendrell Bayona, Gemma Giralt García, Asunción Fernández Rodríguez
Funding agency: Instituto de Salud Carlos III
Funding: 109505
Reference: PI09/00632
Duration: 01/01/2010 - 31/12/2013

Estudio multidimensional del espectro de los trastornos relacionados con la exposición prenatal al alcohol

IP: Miguel del Campo Casanelles
Collaborators: Núria Gómez Barros, Carlos Jacas Escarcellé, Susana Boronat Guerero, Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding: 99220
Reference: PI12/02289
Duration: 01/01/2013 - 31/12/2015

Estada al Massachusetts General Hospital, Boston (EEUU)

IP: Susana Boronat Guerero
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 52000
Reference: BA11/00086
Duration: 07/11/2011 - 06/07/2013

Profundización en el conocimiento de la asistencia e investigación en El Síndrome Alcohol Fetal

IP: Miguel del Campo Casanelles
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 7800
Reference: BA12/00112
Duration: 01/07/2012 - 30/09/2012

Investigación del papel de las reorganizaciones genómicas en los Defectos Congénitos del Corazón (DGC) y desarrollo de nuevas herramientas de diagnóstico genético prenatal y postnatal

IP: Alberto Plaja Rustein
Collaborators: Maria Ángeles Sánchez Durán, Teresa Vendrell Bayona, Gemma Giralt García, Asunción Fernández Rodríguez
Funding agency: Instituto de Salud Carlos III
Funding: 109505
Reference: PI09/00632
Duration: 01/01/2010 - 31/12/2013

Estada al Massachusetts General Hospital, Boston (EEUU)

IP: Susana Boronat Guerero
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 52000
Reference: BA11/00086
Duration: 07/11/2011 - 06/07/2013

Investigación del papel de las reorganizaciones genómicas en los Defectos Congénitos del Corazón (DGC) y desarrollo de nuevas herramientas de diagnóstico genético prenatal y postnatal

IP: Alberto Plaja Rustein
Collaborators: Maria Ángeles Sánchez Durán, Teresa Vendrell Bayona, Gemma Giralt García, Asunción Fernández Rodríguez
Funding agency: Instituto de Salud Carlos III
Funding: 109505
Reference: PI09/00632
Duration: 01/01/2010 - 31/12/2013

Rare Disease Portal RD-PORTAL Grant No 2006119 Funding agency: Public Health Executive Agency (PHEA)

IP: Miguel del Campo Casanelles
Collaborators: -
Funding agency: EUROPEAN COMMISSION
Funding: 125392.23
Reference: ORPHANET-2006119
Duration: 01/04/2007 - 31/03/2010

Evaluación de la eficacia y seguridad de Losartán en la reducción del estrés oxidativo y la disminución de la Tensión Arterial (TA) en pacientes con síndrome de Williams (SW) y dos o más copias del gen NCF1

IP: Miguel del Campo Casanelles
Collaborators: Pedro Betrian Blasco, Luis Enrique Lara Moctezuma
Funding agency: Instituto de Salud Carlos III
Funding: 161305.1
Reference: EC07/90123
Duration: 01/11/2007 - 31/12/2010

Investigación del papel de las reorganizaciones genómicas en los Defectos Congénitos del Corazón (DGC) y desarrollo de nuevas herramientas de diagnóstico genético prenatal y postnatal

IP: Alberto Plaja Rustein
Collaborators: Maria Ángeles Sánchez Durán, Teresa Vendrell Bayona, Gemma Giralt García, Asunción Fernández Rodríguez
Funding agency: Instituto de Salud Carlos III
Funding: 109505
Reference: PI09/00632
Duration: 01/01/2010 - 31/12/2013

Annual meeting of the european society of paediatric radiology (ESPR)

IP: -
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 6000
Reference: SAF2007-30225-E
Duration: 11/04/2008 - 10/04/2009

Ministerio de Ciencia

Rare Disease Portal RD-PORTAL Grant No 2006119 Funding agency: Public Health Executive Agency (PHEA)

IP: Miguel del Campo Casanelles
Collaborators: -
Funding agency: EUROPEAN COMMISSION
Funding: 125392.23
Reference: ORPHANET-2006119
Duration: 01/04/2007 - 31/03/2010

Evaluación de la eficacia y seguridad de Losartán en la reducción del estrés oxidativo y la disminución de la Tensión Arterial (TA) en pacientes con síndrome de Williams (SW) y dos o más copias del gen NCF1

IP: Miguel del Campo Casanelles
Collaborators: Pedro Betrian Blasco, Luis Enrique Lara Moctezuma
Funding agency: Instituto de Salud Carlos III
Funding: 161305.1
Reference: EC07/90123
Duration: 01/11/2007 - 31/12/2010

Annual meeting of the european society of paediatric radiology (ESPR)

IP: -
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 6000
Reference: SAF2007-30225-E
Duration: 11/04/2008 - 10/04/2009

Ministerio de Ciencia

Patrones epigenéticos en cancer colorectal con inestabilidad cromosómica y su modulación a la exposición de agentes quimioterapeuticos. Identificación de nuevos genes y dianas terapéuticas.

IP: Alberto Plaja Rustein
Collaborators: -
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 52000
Reference: FMMA/02/2004
Duration: 01/07/2005 - 30/06/2008

Rare Disease Portal RD-PORTAL Grant No 2006119 Funding agency: Public Health Executive Agency (PHEA)

IP: Miguel del Campo Casanelles
Collaborators: -
Funding agency: EUROPEAN COMMISSION
Funding: 125392.23
Reference: ORPHANET-2006119
Duration: 01/04/2007 - 31/03/2010

Evaluación de la eficacia y seguridad de Losartán en la reducción del estrés oxidativo y la disminución de la Tensión Arterial (TA) en pacientes con síndrome de Williams (SW) y dos o más copias del gen NCF1

IP: Miguel del Campo Casanelles
Collaborators: Pedro Betrian Blasco, Luis Enrique Lara Moctezuma
Funding agency: Instituto de Salud Carlos III
Funding: 161305.1
Reference: EC07/90123
Duration: 01/11/2007 - 31/12/2010

Patrones epigenéticos en cancer colorectal con inestabilidad cromosómica y su modulación a la exposición de agentes quimioterapeuticos. Identificación de nuevos genes y dianas terapéuticas.

IP: Alberto Plaja Rustein
Collaborators: -
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 52000
Reference: FMMA/02/2004
Duration: 01/07/2005 - 30/06/2008

Rare Disease Portal RD-PORTAL Grant No 2006119 Funding agency: Public Health Executive Agency (PHEA)

IP: Miguel del Campo Casanelles
Collaborators: -
Funding agency: EUROPEAN COMMISSION
Funding: 125392.23
Reference: ORPHANET-2006119
Duration: 01/04/2007 - 31/03/2010

Evaluación de la eficacia y seguridad de Losartán en la reducción del estrés oxidativo y la disminución de la Tensión Arterial (TA) en pacientes con síndrome de Williams (SW) y dos o más copias del gen NCF1

IP: Miguel del Campo Casanelles
Collaborators: Pedro Betrian Blasco, Luis Enrique Lara Moctezuma
Funding agency: Instituto de Salud Carlos III
Funding: 161305.1
Reference: EC07/90123
Duration: 01/11/2007 - 31/12/2010

Patrones epigenéticos en cancer colorectal con inestabilidad cromosómica y su modulación a la exposición de agentes quimioterapeuticos. Identificación de nuevos genes y dianas terapéuticas.

IP: Alberto Plaja Rustein
Collaborators: -
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 52000
Reference: FMMA/02/2004
Duration: 01/07/2005 - 30/06/2008

Patrones epigenéticos en cancer colorectal con inestabilidad cromosómica y su modulación a la exposición de agentes quimioterapeuticos. Identificación de nuevos genes y dianas terapéuticas.

IP: Alberto Plaja Rustein
Collaborators: -
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 52000
Reference: FMMA/02/2004
Duration: 01/07/2005 - 30/06/2008

Evaluacion experimental de la monitorizacion fetal minimamente invasiva mediante microsensores telemetricos subcutaneos.

IP: -
Collaborators: Maria Ángeles Sánchez Durán, Marta Rosal Fontana
Funding agency: Instituto de Salud Carlos III
Funding: 55533.52
Reference: 01/1382
Duration: 17/07/2001 - 31/12/2003

Evaluacion experimental de la monitorizacion fetal minimamente invasiva mediante microsensores telemetricos subcutaneos.

IP: -
Collaborators: Maria Ángeles Sánchez Durán, Marta Rosal Fontana
Funding agency: Instituto de Salud Carlos III
Funding: 55533.52
Reference: 01/1382
Duration: 17/07/2001 - 31/12/2003

Evaluacion experimental de la monitorizacion fetal minimamente invasiva mediante microsensores telemetricos subcutaneos.

IP: -
Collaborators: Maria Ángeles Sánchez Durán, Marta Rosal Fontana
Funding agency: Instituto de Salud Carlos III
Funding: 55533.52
Reference: 01/1382
Duration: 17/07/2001 - 31/12/2003

Publications

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

PMID: 34942136
Journal: LANCET NEUROLOGY
Year: 2022
Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.
Impact factor: 44.182
Publication type: Paper in international publication
Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al.
DOI: 10.1016/S1474-4422(21)00367-7

Placental Tissue Destruction and Insufficiency from COVID-19 Causes Stillbirth and Neonatal Death from Hypoxic-Ischemic Injury: A Study of 68 Cases with SARS-CoV-2 Placentitis from 12 Countries.

PMID: 35142798
Journal: ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
Year: 2022
Reference: Arch Pathol Lab Med. 2022 Jun 1;146(6):660-676. doi: 10.5858/arpa.2022-0029-SA.
Impact factor: 5.534
Publication type: Paper in international publication
Authors: Schwartz, David A; Avvad-Portari, Elyzabeth; Babal, Pavel; Baldewijns, Marcella; Blomberg, Marie; Bouachba, Amine; Saad, Ali G; Sand, Anna; Schoenmakers, Sam; Sehn, Jennifer K et al.
DOI: 10.5858/arpa.2022-0029-SA

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

PMID: 34894068
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2022
Reference: Am J Med Genet A. 2022 Mar;188(3):991-995. doi: 10.1002/ajmg.a.62596. Epub 2021 Dec 11.
Impact factor: 2.802
Publication type: Paper in international publication
Authors: Valenzuela, Irene; Guillen Benitez, Elena; Sanchez-Montanez, Angel; Limeres, Javier; Lopez-Grondona, Fermina; Cusco, Ivon; Tizzano, Eduardo F et al.
DOI: 10.1002/ajmg.a.62596

MacroH2As regulate enhancer-promoter contacts affecting enhancer activity and sensitivity to inflammatory cytokines.

PMID: 35732123
Journal: Cell Reports
Year: 2022
Reference: Cell Rep. 2022 Jun 21;39(12):110988. doi: 10.1016/j.celrep.2022.110988.
Impact factor: 9.423
Publication type: Paper in international publication
Authors: Raurell, Helena; Perez-Gonzalez, Beatriz; Royo, Laura; Del Rio-Alvarez, Alvaro; Perez, Ainhoa; Valero, Vanesa; Le Pannerer, Marguerite-Marie; Garcia-Jaraquemada, Arce; Meers, Oliver; Carrillo-Reixach, Juan et al.
DOI: 10.1016/j.celrep.2022.110988

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

PMID: 34493777
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y.
Impact factor: 4.38
Publication type: Letter or abstract
Authors: Vidal, Silvia, Brandi, Nuria, Pacheco, Paola, Gerotina, Edgar, Trotta, Jean-Remi, Derdak, Sophia, Del Mar O'Callaghan, Maria, Garcia-Cazorla, Angels, Pineda, Merce, Armstrong, Judith et al.
DOI: 10.1038/s41598-021-97262-y

Current Status of Genetic Counselling for Rare Diseases in Spain.

PMID: 34943558
Journal: Diagnostics
Year: 2021
Reference: Diagnostics (Basel). 2021 Dec 9;11(12). pii: diagnostics11122320. doi: 10.3390/diagnostics11122320.
Impact factor: 3.706
Publication type: Review in international publication
Authors: Abuli, Anna, Alvaro-Sanchez, Sara, Abreu-Rodriguez, Irene, Garrido-Navas, Maria Del Carmen, Serra-Juhe, Clara et al.
DOI: 10.3390/diagnostics11122320

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

PMID: 34445733
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Aug 21;22(16). pii: ijms22169029. doi: 10.3390/ijms22169029.
Impact factor: 5.924
Publication type: Review in international publication
Authors: Costa-Roger, Mar, Blasco-Perez, Laura, Cusco, Ivon, Tizzano, Eduardo F et al.
DOI: 10.3390/ijms22169029

Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.

PMID: 34330959
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Jul 30;11(1):15511. doi: 10.1038/s41598-021-94798-x.
Impact factor: 4.38
Publication type: Paper in international publication
Authors: Calucho, Maite, Gartner, Silvia, Barranco, Paula, Fernandez-Alvarez, Paula, Perez, Raquel Garcia, Tizzano, Eduardo F et al.
DOI: 10.1038/s41598-021-94798-x

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

PMID: 33420009
Journal: Human genome variation
Year: 2020
Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3.
Impact factor: 0
Publication type: Paper in international publication
Authors: Cueto-Gonzalez, Anna M, Fernandez-Cancio, Monica, Fernandez-Alvarez, Paula, Garcia-Arumi, Elena, Tizzano, Eduardo F et al.
DOI: 10.1038/s41439-020-0105-3

Neonatal Infection Due to SARS-CoV-2: An Epidemiological Study in Spain.

PMID: 33194912
Journal: Frontiers in Pediatrics
Year: 2020
Reference: Front Pediatr. 2020 Oct 23;8:580584. doi: 10.3389/fped.2020.580584. eCollection 2020.
Impact factor: 2.634
Publication type: Paper in international publication
Authors: Ribes Bautista, Carmen, Fernandez Colomer, Belen, Sanchez-Luna, Manuel, de Alba Romero, Concepcion, Alarcon, Ana, Bana Souto, Ana, Camba Longueira, Fatima, Cernada, Maria, Galve Pradell, Zenaida, Gonzalez Lopez, Maria et al.
DOI: 10.3389/fped.2020.580584

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

PMID: 33182294
Journal: Journal of Clinical Medicine
Year: 2020
Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603.
Impact factor: 3.303
Publication type: Paper in international publication
Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al.
DOI: 10.3390/jcm9113603

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

PMID: 32896090
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2020
Reference: Am J Med Genet A. 2020 Nov;182(11):2742-2745. doi: 10.1002/ajmg.a.61839. Epub 2020 Sep 8.
Impact factor: 2.125
Publication type: Letter or abstract
Authors: Mur, Pilar, Valenzuela, Irene, Codina, Marta, Fernandez-Alvarez, Paula, Cusco, Ivon, Tizzano, Eduardo F, Valle, Laura et al.
DOI: 10.1002/ajmg.a.61839

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

PMID: 31681265
Journal: Frontiers in Immunology
Year: 2019
Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019.
Impact factor: 4.716
Publication type: Paper in international publication
Authors: Rudilla, Francesc, Franco-Jarava, Clara, Martinez-Gallo, Monica, Garcia-Prat, Marina, Martin-Nalda, Andrea, Riviere, Jacques, Aguilo-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier et al.
DOI: 10.3389/fimmu.2019.02325

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

PMID: 31663686
Journal: Molecular Genetics & Genomic Medicine
Year: 2019
Reference: Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30.
Impact factor: 2.448
Publication type: Paper in international publication
Authors: Martin-Nalda, Andrea, Cueto-Gonzalez, Anna M, Argudo-Ramirez, Ana, Marin-Soria, Jose L, Martinez-Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F et al.
DOI: 10.1002/mgg3.1016

Reply to "Global central nervous system atrophy in spinal muscular atrophy type 0".

PMID: 31502291
Journal: ANNALS OF NEUROLOGY
Year: 2019
Reference: Ann Neurol. 2019 Nov;86(5):803. doi: 10.1002/ana.25597. Epub 2019 Oct 3.
Impact factor: 9.496
Publication type: Letter or abstract
Authors: Mendonca, Rodrigo H, Rocha, Antonio J, Lozano-Arango, Andres, Diaz, Astry B, Castiglioni, Claudia, Reed, Umbertina C, Silva, Andre M S, Kulikowski, Leslie, Paramonov, Ida, Cusco, Ivon et al.
DOI: 10.1002/ana.25597

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

PMID: 31427717
Journal: Scientific Reports
Year: 2019
Reference: Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w.
Impact factor: 4.011
Publication type: Paper in international publication
Authors: Toledo, Maria de, Belzunces, Nuria, Boronat, Susana, Camacho, Tomas, Campistol, Jaume, Campo, Miguel Del, Campo, Andrea, Cancho, Ramon, Candau, Ramon, Canos, Ignacio et al.
DOI: 10.1038/s41598-019-48385-w

Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease

PMID: NOPMID0074
Journal: CASE REPORTS IN PERINATAL MEDICINE
Year: 2018
Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025
Impact factor: 0
Publication type: Paper in international publication
Authors: Valenzuela, Irene, Lines, Marcos, Martinez-Saez, Elena, Cueto-Gonzalez, Ana, Castillo, Felix, Tizzano, Eduardo et al.
DOI: 10.1515/crpm-2017-0025

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

PMID: 28958749
Journal: ANALES DE PEDIATRIA
Year: 2018
Reference: An Pediatr (Barc). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27.
Impact factor: 1.14
Publication type: Paper in national publication
Authors: Castells-Sarret, Neus, Cueto-Gonzalez, Anna M, Borregan, Mar, Lopez-Grondona, Fermina, Miro, Rosa, Tizzano, Eduardo, Plaja, Alberto et al.
DOI: 10.1016/j.anpedi.2017.07.011

The umbilical cord, preeclampsia and the VEGF family.

PMID: 30568515
Journal: International journal of women's health
Year: 2018
Reference: Int J Womens Health. 2018 Nov 28;10:783-795. doi: 10.2147/IJWH.S174734. eCollection 2018.
Impact factor: 0
Publication type: Paper in international publication
Authors: Olaya-C, Mercedes, Garrido, Marta, Hernandez-Losa, Javier, Sese, Marta, Ayala-Ramirez, Paola, Somoza, Rosa, Vargas, Magda Jimena, Cajal, Santiago Ramon Y et al.
DOI: 10.2147/IJWH.S174734

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.

PMID: 30063981
Journal: CLINICAL IMMUNOLOGY
Year: 2018
Reference: Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29.
Impact factor: 3.557
Publication type: Paper in international publication
Authors: Dieli-Crimi, Romina, Martinez-Gallo, Monica, Franco-Jarava, Clara, Antolin, Maria, Blasco, Laura, Paramonov, Ida, Semidey, Maria E, Fernandez, Antoni Alvarez, Velasquez, Julio, Martin-Nalda, Andrea et al.
DOI: 10.1016/j.clim.2018.07.015

Provision of Genetic Services for Autism and its Impact on Spanish Families.

PMID: 28681252
Journal: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Year: 2017
Reference: J Autism Dev Disord. 2017 Oct;47(10):2947-2956. doi: 10.1007/s10803-017-3203-4.
Impact factor: 3.321
Publication type: Paper in international publication
Authors: Codina-Sola, Marta, Perez-Jurado, Luis A, Cusco, Ivon, Serra-Juhe, Clara et al.
DOI: 10.1007/s10803-017-3203-4

Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders.

PMID: 27620364
Journal: European Journal of Medical Genetics
Year: 2017
Reference: Eur J Med Genet. 2017 Jan;60(1):65-71. doi: 10.1016/j.ejmg.2016.09.003. Epub 2016 Sep 9.
Impact factor: 1.81
Publication type: Paper in international publication
Authors: Boronat, S, Sanchez-Montanez, A, Gomez, N, Jacas, C, Martinez-Ribot, L, Vazquez, E, Del Campo, M et al.
DOI: 10.1016/j.ejmg.2016.09.003

Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders.

PMID: 27638326
Journal: European Journal of Medical Genetics
Year: 2017
Reference: Eur J Med Genet. 2017 Jan;60(1):72-78. doi: 10.1016/j.ejmg.2016.09.012. Epub 2016 Sep 13.
Impact factor: 1.81
Publication type: Paper in international publication
Authors: Boronat, S, Vicente, M, Lainez, E, Sanchez-Montanez, A, Vazquez, E, Mangado, L, Martinez-Ribot, L, Del Campo, M et al.
DOI: 10.1016/j.ejmg.2016.09.012

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.

PMID: 27567161
Journal: BRAIN & DEVELOPMENT
Year: 2017
Reference: Brain Dev. 2017 Jan;39(1):62-66. doi: 10.1016/j.braindev.2016.08.003. Epub 2016 Aug 25.
Impact factor: 1.785
Publication type: Paper in international publication
Authors: Sanchez-Montanez, Angel, de Grazia, Jose, Delgado, Ignacio, Vazquez, Elida, Del Campo, Miguel, Boronat, Susana et al.
DOI: 10.1016/j.braindev.2016.08.003

Simultaneous bilateral atypical femoral fracture in a patient receiving denosumab: case report and literature review.

PMID: 26501556
Journal: OSTEOPOROSIS INTERNATIONAL
Year: 2016
Reference: Osteoporos Int. 2016 Feb;27(2):827-32. doi: 10.1007/s00198-015-3355-z.
Impact factor: 4.169
Publication type: Paper in international publication
Authors: Selga, J, Nunez, J H, Minguell, J, Lalanza, M, Garrido, M et al.
DOI: 10.1007/s00198-015-3355-z

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

PMID: 27404287
Journal: Translational Psychiatry
Year: 2016
Reference: Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120.
Impact factor: 5.538
Publication type: Paper in international publication
Authors: Homs, A, Codina-Sola, M, Rodriguez-Santiago, B, Villanueva, C M, Monk, D, Cusco, I, Perez-Jurado, L A et al.
DOI: 10.1038/tp.2016.120

Gonyautoxins: First evidence in pain management in total knee arthroplasty.

PMID: 27317871
Journal: TOXICON
Year: 2016
Reference: Toxicon. 2016 Sep 1;119:180-5. doi: 10.1016/j.toxicon.2016.06.010. Epub 2016 Jun 15.
Impact factor: 2.309
Publication type: Paper in international publication
Authors: Hinzpeter, Jaime, Barrientos, Cristian, Zamorano, Alvaro, Martinez, Alvaro, Palet, Miguel, Wulf, Rodrigo, Barahona, Maximiliano, Sepulveda, Joaquin M, Bustamante, Tamara, Del Campo, Miguel et al.
DOI: 10.1016/j.toxicon.2016.06.010

Metabolic abnormalities in Williams-Beuren syndrome.

PMID: 25663682
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2015
Reference: J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6.
Impact factor: 6.335
Publication type: Paper in international publication
Authors: Segura-Puimedon, Maria, Borralleras, Cristina, Flores, Raquel, Del Campo, Miguel, Campuzano, Victoria, Perez-Jurado, Luis Alberto, Palacios-Verdu, Maria Gabriela et al.
DOI: 10.1136/jmedgenet-2014-102713

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID: 25969726
Journal: Molecular Autism
Year: 2015
Reference: Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.
Impact factor: 5.413
Publication type: Paper in international publication
Authors: Gabau, Elisabeth, Botella, Maria Pilar, Gutierrez-Arumi, Armand, Antinolo, Guillermo, Perez-Jurado, Luis Alberto, Cusco, Ivon, Gener, Blanca, Del Campo, Miguel, Aznar-Lain, Gemma, Rigau, Maria et al.
DOI: 10.1186/s13229-015-0017-0

Recomendaciones para el uso clínico del microarray genómico en diagnóstico prenatal

PMID: 0003nopmid
Journal: Prog Obstet Ginecol
Year: 2015
Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473
Impact factor: 0
Publication type: Paper in national publication
Authors: Plaja Rustein, Alberto, Campo Casanelles, Miguel del, Casals, Elena, Figueras, Francesc, Chica, Rosana de la, Armengol, Lluis, Cirigliano , Vincenzo, Borrell, Antoni et al.
DOI: 10.1016/j.pog.2015.05.003

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

PMID: 25898808
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2015
Reference: Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21.
Impact factor: 2.159
Publication type: Paper in international publication
Authors: Garg, Abhimanyu, Kircher, Martin, Del Campo, Miguel, Amato, R Stephen, Agarwal, Anil K et al.
DOI: 10.1002/ajmg.a.37115

Whole-body MRI for initial staging of paediatric lymphoma: prospective comparison to an FDG-PET/CT-based reference standard.

PMID: 24563179
Journal: EUR RADIOL
Year: 2014
Reference: Eur Radiol. 2014 May;24(5):1153-65. doi: 10.1007/s00330-014-3114-0. Epub 2014 Feb 23.
Impact factor: 4.338
Publication type: Paper in international publication
Authors: Nievelstein, Rutger A J, Stoker, Jaap, Bierings, Marc B, Hobbelink, Monique G, Beek, Frederik J A, Littooij, Annemieke S, Kwee, Thomas C, Barber, Ignasi, Granata, Claudio, Vermoolen, Malou A et al.
DOI: 10.1007/s00330-014-3114-0

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

PMID: 24162162
Journal: PEDIATR NEPHROL
Year: 2014
Reference: Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27.
Impact factor: 2.881
Publication type: Paper in international publication
Authors: Krall, Paola, Pineda, Cristina, Ruiz, Patricia, Ejarque, Laia, Vendrell, Teresa, Camacho, Juan Antonio, Mendizabal, Santiago, Oliver, Artur, Ballarin, Jose, Torra, Roser et al.
DOI: 10.1007/s00467-013-2657-7

Nonsyndromic familial aortic disease: an underdiagnosed entity.

PMID: 25200617
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2014
Reference: Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8.
Impact factor: 3.342
Publication type: Letter or abstract
Authors: Teixido-Tura, Gisela, Valenzuela, Irene, Gutierrez, Laura, Borregan, Mar, del Campo, Miguel, Evangelista, Artur et al.
DOI: 10.1016/j.rec.2014.06.003

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID: 24403048
Journal: HUM MOL GENET
Year: 2014
Reference: Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
Impact factor: 6.677
Publication type: Paper in international publication
Authors: Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J et al.
DOI: 10.1093/hmg/ddu002

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID: 23522784
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2013
Reference: Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21.
Impact factor: 11.202
Publication type: Paper in international publication
Authors: Ashour, Adel, Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Cueto-Gonzalez, Anna M, Abdel-Salam, Ghada, Temtamy, Samia et al.
DOI: 10.1016/j.ajhg.2013.02.012

Congenital lung malformations: radiological findings and clues for differential diagnosis.

PMID: 23436824
Journal: ACTA RADIOLOGICA
Year: 2013
Reference: Acta Radiol. 2013 Nov;54(9):1086-95. doi: 10.1177/028418511305400901. Epub 2013 Apr 30.
Impact factor: 1.33
Publication type: Review in international publication
Authors: Garcia-Pena, Pilar, Coma, Ana, Enriquez, Goya et al.
DOI: 10.1177/028418511305400901

Reversal of hyperoxaluric cardiomyopathy with severe cardiac dysfunction after combined liver and kidney transplantation.

PMID: 24775460
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2013
Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.rec.2012.06.018. Epub 2012 Sep 25.
Impact factor: 3.204
Publication type: Letter whit IF
Authors: Giralt, Gemma, Madrid, Alvaro, Garrido, Marta, Albert, Dimpna C, Betrian, Pedro, Girona, Josep et al.
DOI: 10.1016/j.rec.2012.06.018

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration.

PMID: 23894094
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2013
Reference: Am J Med Genet A. 2013 Sep;161(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25.
Impact factor: 2.304
Publication type: Paper in international publication
Authors: Campo, Miguel Del, Fernandez, Asuncion, Herrero, Marta, Barranco, Laura, Palau, Nuria, Lopez-Ariztegui, M Asuncion, Catala, Vicenc, Tejada, Maria-Isabel, Barrena, Beatriz, Martinez-Bouzas, Cristina et al.
DOI: 10.1002/ajmg.a.36102

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

PMID: 23122587
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2012
Reference: Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
Impact factor: 10.603
Publication type: Paper in international publication
Authors: Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J, Sezgin, Orhan, Beynon, Andy J, Strom, Tim M, Pennings, Ronald J E, Seco, Celia Zazo et al.
DOI: 10.1016/j.ajhg.2012.09.012

Contribution of rare copy number variants to isolated human malformations.

PMID: 23056206
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.
Impact factor: 4.092
Publication type: Paper in international publication
Authors: Serra-Juhe, Clara, Rodriguez-Santiago, Benjamin, Cusco, Ivon, Vendrell, Teresa, Camats, Nuria, Toran, Nuria, Perez-Jurado, Luis A et al.
DOI: 10.1371/journal.pone.0045530

Association of ventricular noncompaction and histiocytoid cardiomyopathy: case report and review of the literature.

PMID: 22758650
Journal: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Year: 2012
Reference: Pediatr Dev Pathol. 2012 Sep-Oct;15(5):397-402. doi: 10.2350/12-05-1193-CR.1. Epub 2012 Jul 3.
Impact factor: 0.986
Publication type: Review in international publication
Authors: , , , , , et al.
DOI: 10.2350/12-05-1193-CR.1

High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

PMID: 22664374
Journal: BLOOD CELLS MOLECULES AND DISEASES
Year: 2012
Reference: Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2.
Impact factor: 2.351
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1016/j.bcmd.2012.05.008

White hemithorax in children.

PMID: 21553041
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Jul;41(7):916-24. doi: 10.1007/s00247-011-2065-8. Epub 2011 May 7.
Impact factor: 1.499
Publication type: Review in international publication
Authors: Lucaya, Javier, Garces-Inigo, Enrique F, Garcia-Pena, Pilar, Piqueras, Joaquim, Enriquez, Goya et al.
DOI: 10.1007/s00247-011-2065-8

[Mid-aortic syndrome: case studies from a paediatric nephrology department].

PMID: 21398195
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Jul;75(1):33-9. doi: 10.1016/j.anpedi.2011.01.026. Epub 2011 Mar 12.
Impact factor: 0.57
Publication type: Letter or abstract
Authors: Chocron de Benzaquen, S, Munoz Lopez, M, Madrid Aris, A D, Castellote Alonso, A, Enriquez, G, Nieto Rey, J L et al.
DOI: 10.1016/j.anpedi.2011.01.026

Side effects of oncologic therapies in the pediatric central nervous system: update on neuroimaging findings.

PMID: 21768243
Journal: RADIOGRAPHICS
Year: 2011
Reference: Radiographics. 2011 Jul-Aug;31(4):1123-39. doi: 10.1148/rg.314105180.
Impact factor: 2.76
Publication type: Review in international publication
Authors: Vazquez, Elida, Delgado, Ignacio, Sanchez-Montanez, Angel, Barber, Ignasi, Sanchez-Toledo, Jose, Enriquez, Goya et al.
DOI: 10.1148/rg.314105180

Correlation between US and MRI for prenatal lung volumetry in diaphragmatic hernia, and use of Doppler to identify the ipsilateral lung cap.

PMID: 21938506
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Dec;41(12):1569-77. Epub 2011 Sep 22.
Impact factor: 1.499
Publication type: Paper in international publication
Authors: Castellote, Amparo, Mencho, Sandra, Carreras, Elena, Higueras, Teresa, Cadavid, Lina, Piqueras, Joaquim, Enriquez, Goya et al.
DOI: 10.1007/s00247-011-2200-6

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer.

PMID: 19649703
Journal: BREAST CANCER RESEARCH AND TREATMENT
Year: 2010
Reference: Breast Cancer Res Treat. 2010 May;121(1):221-5. Epub 2009 Aug 1.
Impact factor: 4.696
Publication type: Paper in international publication
Authors: Diez, Orland, Gutierrez-Enriquez, Sara, Mediano, Carmen, Masas, Miriam, Saura, Cristina, Gadea, Neus, Balmana, Judith et al.
DOI: 10.1007/s10549-009-0494-y

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

PMID: 20503313
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2010
Reference: Am J Med Genet A. 2010 Jun;152A(6):1390-7.
Impact factor: 2.404
Publication type: Paper in international publication
Authors: Romanelli, Valeria, Belinchon, Alberta, Benito-Sanz, Sara, Martinez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E, Campos-Barros, Angel, Garcia-Minaur, Sixto, Fernandez, Luis, Meneses, Heloisa et al.
DOI: 10.1002/ajmg.a.33453

Assessment of QF-PCR as the first approach in prenatal diagnosis.

PMID: 20889556
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2010
Reference: J Mol Diagn. 2010 Nov;12(6):828-34. Epub 2010 Oct 1.
Impact factor: 3.413
Publication type: Paper in international publication
Authors: Badenas, Celia, Rodriguez-Revenga, Laia, Morales, Carme, Mediano, Carmen, Plaja, Alberto, Perez-Iribarne, Ma Mar, Soler, Anna, Clusellas, Nuria, Borrell, Antoni, Sanchez, Ma Angeles et al.
DOI: 10.2353/jmoldx.2010.090224

Fetal alcohol spectrum disorders: Extending the range of structural defects.

PMID: 20949507
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2010
Reference: Am J Med Genet A. 2010 Nov;152A(11):2731-5.
Impact factor: 2.404
Publication type: Paper in international publication
Authors: , , , , , , et al.
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Pitfalls in chest imaging.

PMID: 19440754
Journal: PEDIATRIC RADIOLOGY
Year: 2009
Reference: Pediatr Radiol. 2009 Jun;39 Suppl 3:356-68. doi: 10.1007/s00247-009-1228-3.
Impact factor: 1.186
Publication type: Review in international publication
Authors: Enriquez, Goya, Garcia-Pena, Pilar, Lucaya, Javier et al.
DOI: 10.1007/s00247-009-1228-3

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

PMID: 19350654
Journal: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Year: 2009
Reference: Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695-9.
Impact factor: 2.17
Publication type: Paper in international publication
Authors: Robinson, Luther K, Jones, Kenneth Lyons, Hoyme, H Eugene, Bakhireva, Ludmila N, Prewitt, Lela M, Chambers, Christina D, Manning, Melanie A, del Campo, Miguel et al.
DOI: 10.1002/bdra.20585

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

PMID: 19246517
Journal: HUMAN MOLECULAR GENETICS
Year: 2009
Reference: Hum Mol Genet. 2009 May 15;18(10):1795-804.
Impact factor: 7.249
Publication type: Paper in international publication
Authors: Medrano, Andres, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fatima, Villa, Olaya, Gonzalez, Eva, Rodriguez-Santiago, Benjamin, Vilella, Elisabet, Del Campo, Miguel, Perez-Jurado, Luis A et al.
DOI: 10.1093/hmg/ddp092

Low-dose pioglitazone and low-dose flutamide added to metformin and oestro-progestagens for hyperinsulinaemic women with androgen excess: add-on benefits disclosed by a randomized double-placebo study over 24 months.

PMID: 19018783
Journal: CLINICAL ENDOCRINOLOGY
Year: 2009
Reference: Clin Endocrinol (Oxf). 2009 Sep;71(3):351-7.
Impact factor: 3.398
Publication type: Paper in international publication
Authors: Ibanez, Lourdes, Lopez-Bermejo, Abel, Diaz, Marta, Enriquez, Goya, del Rio, Luis, de Zegher, Francis et al.
DOI: 10.1111/j.1365-2265.2008.03472.x

Thesis

Dinámicas volumétricas tisulares de las crestas palatinas integradas en los procesos maxilares: estudio estereológico durante el periodo embrionario humano

PhD student: Anna Maria Cueto Gonzalez
Director/s:
University: Universitat Autònoma de Barcelona
Year: 2016

Estudio histológico y nanoscópico con espectroscopia RAMAN del desarrollo pulmonar en la oclusión traqueal precoz como terapia fetal de la hipoplasia pulmonar en la hernia diafragmática congénita en el feto ovino

PhD student: Maite Calucho Prim
Director/s:
University: Universitat Autònoma de Barcelona
Year: 2014

Utilidad de la ultrasonografía-dupplex de la arteria temporal en el diagnóstico y seguimiento de la arteritis de células gigantes

PhD student: Jorge Pérez López
Director/s:
University: Universitat Autònoma de Barcelona
Year: 2007

Job offers

Pediatric Pulmonologist - Medicine Genetics and Neuromuscular Mitochondrial Pathology Research group
Start date:
11/03/2022
End date:
25/03/2022
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Research technician - Genetic medicine Research Group
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20/01/2022
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05/02/2022
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Project Manager - Medicine Genetics Research Group..
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27/09/2021
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