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María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

Spain

Research Interests

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Professors in Spain Professors in Biostatistics Biostatistics professors in Spain

Articles (20)

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2021

Collaborators (36)

Ignacio Málaga

Professor (Profesor Contratado Doctor)

Central University Hospital of Asturias

SPAIN

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Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Angela del Pozo Maté

Header

La Paz University Hospital

SPAIN

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Stefan Barakat

Associate professor

Erasmus MC

NETHERLANDS

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Rikke S. Møller

University of Southern Denmark

DENMARK

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Anna Ruiz

Institute of Research and Innovation Parc Tauli

SPAIN

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Christiane Zweier

Head

Inselspital Universitätsspital Bern

SWITZERLAND

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Richard H. van Jaarsveld

Universitair Medisch Centrum Utrecht

NETHERLANDS

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Carmen Ayuso

SPAIN

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Samantha Schrier Vergano

Associate Professor

Seattle Children's Hospital

UNITED STATES

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Mercedes Serrano

Associate Professor

University of Barcelona

SPAIN

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M. E. Suzanne Lewis

CANADA

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Angela Peron

Clinical geneticist

Università degli Studi di Napoli Federico II

ITALY

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Tugce Balci

Assistant Professor

Western University

CANADA

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Anna Mª Cueto-González

Médico Consulta Genética Clínica

Hospital Universitari Vall d'Hebron

SPAIN

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Sally Ann Lynch

IRELAND

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Feliciano Jesús Ramos Fuentes

Catedrático Vinculado

Universidad de Zaragoza

SPAIN

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Elisa Giorgio

Associate Professor

University of Pavia

ITALY

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Allan Bayat

University of Southern Denmark

DENMARK

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Stephan Collins

University of Burgundy

FRANCE

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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William Dobyns

Professor

University of Minnesota

UNITED STATES

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Guiomar Perez de Nanclares

SPAIN

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Carlos Parras

PI- Principal Investigator

INSERM

FRANCE

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Karen Gripp

Chief

Nemours Children's Health System

UNITED STATES

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Eline van der Sluijs

Leiden University Medical Center

NETHERLANDS

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Michiel Vanhooydonck

Ghent University

BELGIUM

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Kristen Lee

Clinical Assistant Professor

University of Michigan

UNITED STATES

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laïla el khattabi

Sorbonne Université Faculté de Médecine

FRANCE

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Annick Toutain

FRANCE

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Saoud Tahsin Swafiri Swafiri

Profesor asociado

Universidad Francisco de Vitoria

SPAIN

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Jozef Gecz

Chair for the Prevention of Childhood Disability

South Australian Health and Medical Research Institute

AUSTRALIA

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Elsebet Østergaard

Associate Professor, PhD

University of Copenhagen

DENMARK

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Montse Fernandez-Prieto

Investigadora Senior

Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS)

SPAIN

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Miguel Del Campo Casanelles

Chief

Hospital Universitari Vall d'Hebron

SPAIN

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Dana Layo-Carris

Study Director/Lead Scientist

Jackson Laboratory

UNITED STATES

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María Palomares-Bralo

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Articles (20)

Economic and diagnostic impact of adopting WES and WGS as first-tier tests in the paediatric rare disease diagnosis: evidence from Italy and Spain

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Secuenciación genómica rápida en unidades de críticos neonatales y pediátricas. Evidencias y situación actual

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

AMOTL1‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities

Heterozygous <i>CELF4</i> variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Collaborators (36)

Ignacio Málaga

Meena Balasubramanian

Angela del Pozo Maté

Stefan Barakat

Rikke S. Møller

Anna Ruiz

Christiane Zweier

Richard H. van Jaarsveld

Carmen Ayuso

Samantha Schrier Vergano

Mercedes Serrano

M. E. Suzanne Lewis

Angela Peron

Tugce Balci

Anna Mª Cueto-González

Sally Ann Lynch

Feliciano Jesús Ramos Fuentes

Elisa Giorgio

Allan Bayat

Stephan Collins

Manuela Morleo

William Dobyns

Guiomar Perez de Nanclares

Carlos Parras

Karen Gripp

Eline van der Sluijs

Michiel Vanhooydonck

Kristen Lee

laïla el khattabi

Annick Toutain

Saoud Tahsin Swafiri Swafiri

Jozef Gecz

Elsebet Østergaard

Montse Fernandez-Prieto

Miguel Del Campo Casanelles

Dana Layo-Carris

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