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Manuel Posada

Senior Research Full Professor, Rare Diseases Research Institute, ISCIII

Instituto de Salud Carlos III

Spain

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Research Interests

Biostatistics

30%

Epidemiology

30%

Medical Science

50%

Genomic

30%

Neurodevelopmental Disorders

30%

Next-generation Sequencing

30%

Prenatal Psychology

20%

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Articles10

Psychosocial impact at the time of a rare disease diagnosis

Article Link

Year:

2023

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross‐sectional study

Article Link

Year:

2023

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross-sectional study

Article Link

Year:

2023

Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations

Article Link

Year:

2023

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Article Link

Year:

2023

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Article Link

Year:

2023

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Article Link

Year:

2023

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Article Link

Year:

2023

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Article Link

Year:

2023

Differences in Expression of <i>IQSEC2</i> Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

Article Link

Year:

2022

Collaborators20

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

María Magán-Maganto

Profesora Permanente Laboral

Universidad de Salamanca

SPAIN

Vincent Timmerman

University of Antwerp

BELGIUM

Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

Sandrine PASSEMARD

Université Paris Cité

FRANCE

Sarah Weckhuysen

Associate Professor

University of Antwerp

BELGIUM

Ricardo Canal-Bedia

Professor

Universidad de Salamanca

SPAIN

FCO. JAVIER ALONSO GARCÍA DE LA ROSA

Head

Instituto de Salud Carlos III

SPAIN

María Victoria Martín-Cilleros

Profesora Titular Universidad

Universidad de Salamanca

SPAIN

Konstantina Drosou

The University of Manchester

UNITED KINGDOM

Sara Monzón

Institute of Health Carlos III

SPAIN

Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

Elisa Gallego

Instituto de Investigación Sanitaria La Fe

SPAIN

Mridul Johari

University of Helsinki

FINLAND

Karen Low

University of Bristol

UNITED KINGDOM

Massimiliano Rossi

Université Claude Bernard Lyon 1

FRANCE

Siddharth Banka

The University of Manchester

UNITED KINGDOM

Yves Sznajer

Head and Coordinator

Cliniques Universitaires Saint-Luc

BELGIUM

Gisèle Bonne

INSERM

FRANCE

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