Author details

Full Name

Manuel Posada de la Paz

Affiliation

Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII)

ORCID

Career Start Year

1982

Papers

158

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36901385	Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.	Int J Environ Res Public Health	2023
37506095	Psychosocial impact at the time of a rare disease diagnosis.	PLoS One	2023
36875930	Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross-sectional study.	Health Sci Rep	2023
34110558	Correction to: Effect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study.	J Autism Dev Disord	2022
35742308	Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire.	Int J Environ Res Public Health	2022
35653052	The impact of toxic oil syndrome on physical and psychological health status using the HAQ and the PHQ-9 questionnaires.	Qual Life Res	2022
35682039	Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.	Int J Environ Res Public Health	2022
36397119	Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.	Orphanet J Rare Dis	2022
35261293	Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.	Autism	2022
35260676	A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain.	Sci Rep	2022
33991290	Effect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study.	J Autism Dev Disord	2022
34136909	Toxic oil syndrome: health-related quality-of-life assessment using the SF-36 Health Survey.	Int J Epidemiol	2022
32388625	The ASDEU autism prevalence study in northern Spain.	Eur Child Adolesc Psychiatry	2021
30328577	Spanish Cultural Validation of the Modified Checklist for Autism in Toddlers, Revised.	J Autism Dev Disord	2020
31782082	Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.	J Autism Dev Disord	2020
32041641	Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.	Orphanet J Rare Dis	2020
32674382	Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria.	Brain Sci	2020
32281895	Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories.	Biopreserv Biobank	2020
31606886	Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.	J Autism Dev Disord	2020
30600115	[Mortality attributed to hereditary haemorrhagic telangiectasia and geographical variability in Spain (1981-2016)].	Gac Sanit	2020
30621191	Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations.	Int J Environ Res Public Health	2019
30961612	Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36â¿¿years.	Orphanet J Rare Dis	2019
29558749	Fabry Nephropathy: An Evidence-Based Narrative Review.	Kidney Blood Press Res	2018
32677135	Building a theoretical framework for autism spectrum disorders screening instruments in Europe.	Child Adolesc Ment Health	2018
30081484	Recommendations for Improving the Quality of Rare Disease Registries.	Int J Environ Res Public Health	2018
30103420	A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies.	Int J Environ Res Public Health	2018
30423874	Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain.	Int J Environ Res Public Health	2018
29396563	The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.	Eur J Hum Genet	2018
29214563	Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data.	Adv Exp Med Biol	2017
29214596	Preparing for the Future of Rare Diseases.	Adv Exp Med Biol	2017
29214591	Congenital Anomalies: Cluster Detection and Investigation.	Adv Exp Med Biol	2017
29214590	Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe.	Adv Exp Med Biol	2017
29214566	Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.	Adv Exp Med Biol	2017
29214569	Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER.	Adv Exp Med Biol	2017
29214570	Data Quality in Rare Diseases Registries.	Adv Exp Med Biol	2017
27048374	Social/economic costs and quality of life in patients with haemophilia in Europe.	Eur J Health Econ	2016
27883994	Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns.	Neuroepidemiology	2016
27475682	Impact of rare diseases in oral health.	Med Oral Patol Oral Cir Bucal	2016
27072054	Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.	Eur J Health Econ	2016
27042831	Social/economic costs and health-related quality of life in patients with histiocytosis in Europe.	Eur J Health Econ	2016
27038627	Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.	Eur J Health Econ	2016
27038626	Social/economic costs and health-related quality of life in patients with scleroderma in Europe.	Eur J Health Econ	2016
27038625	Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe.	Eur J Health Econ	2016
27062257	Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe.	Eur J Health Econ	2016
27086322	Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe.	Eur J Health Econ	2016
27107597	Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe.	Eur J Health Econ	2016
27059622	Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe.	Eur J Health Econ	2016
26998603	The Quality of Rare Disease Registries: Evaluation and Characterization.	Public Health Genomics	2016
25537360	The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.	Eur J Hum Genet	2015
26262745	[DEMOCOPHES SPAIN AND ITS CONTRIBUTION TO THE HARMONIZATION OF EUROPEAN HUMAN BIOMONITORING].	Nutr Hosp	2015

1 - 50 of 158

Khalid Hundallah

Prince Sultan Military Medical City

Career Start Year 2010

Number of shared co-authors 1

Mashael Alqahtani

Department of Basic and Clinical Oral Sciences, Umm Al-Qura University

Career Start Year 2009

Number of shared co-authors 1

Amira Masri

The University of Jordan

Career Start Year 2005

Number of shared co-authors 3

Elie Aoun

Columbia University

Career Start Year 2002

Number of shared co-authors 0

Anwar Ul Haq

Khyber Girls Medical College

Career Start Year 2000

Number of shared co-authors 0

Noemi Cabello

Centro Sandoval and Hospital Universitario Clinico de San Carlos

Career Start Year 1999

Number of shared co-authors 0

Abdul Nasir

The First Affiliated Hospital of Zhengzhou University

Career Start Year 1999

Number of shared co-authors 6

Jennifer A Sullivan

Duke University School of Medicine

Career Start Year 1999

Number of shared co-authors 1

Jian-Hua Chen

University of California San Francisco

Career Start Year 1993

Number of shared co-authors 0

Bilal Ahmed

University of Utah Health Sciences Center

Career Start Year 1993

Number of shared co-authors 0

Mohammad H Rahbar

Burn Research Center, Iran University of Medical Sciences

Career Start Year 1992

Number of shared co-authors 0

Thomas Gr??newald

Hospital Chemnitz

Career Start Year 1991

Number of shared co-authors 0

Jaime Cruz-Rojo

12 de Octubre Hospital

Career Start Year 1989

Number of shared co-authors 6

Patrick J Morrison

Belfast City Hospital

Career Start Year 1989

Number of shared co-authors 2

Jos?? M Fern??ndez

Hospital Universitario y Politecnico la Fe

Career Start Year 1988

Number of shared co-authors 1

Burkhard Simma

Academic Teaching Hospital

Career Start Year 1988

Number of shared co-authors 0

Manuel Posada

Institute of Rare Diseases Research, Instituto de Salud Carlos III

Career Start Year 1986

Number of shared co-authors 22

G??rard Waeber

Centre hospitalier universitaire vaudois

Career Start Year 1986

Number of shared co-authors 3

Philippe Aegerter

Cellule methodologique - Sante Publique UVSQ-Inserm U8

Career Start Year 1985

Number of shared co-authors 0

Robert Jakob

Institut fur Angewandte Zellkultur

Career Start Year 1985

Number of shared co-authors 0

Andrea Martinuzzi

Scientific Institute, IRCCS Eugenio Medea, Conegliano-Pieve di Soligo Research Centre

Career Start Year 1984

Number of shared co-authors 1

Karen Byth

Westmead Hospital

Career Start Year 1983

Number of shared co-authors 0

Alexander M Walker

Harvard T.H. Chan School of Public Health

Career Start Year 1975

Number of shared co-authors 0

David J Burn

Population Health Sciences Institute, Newcastle University

Career Start Year 1975

Number of shared co-authors 6

S??gol??ne Aym??

Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite

Career Start Year 1974

Number of shared co-authors 20

Wolfgang Maier

University Hospital Bonn

Career Start Year 1972

Number of shared co-authors 0

Jeffrey P Krischer

Health Informatics Institute, University of South Florida

Career Start Year 1971

Number of shared co-authors 14

Quang Nguyen

Center for Andrology and Sexual Medicine, Viet Duc University Hospital

Career Start Year 1970

Number of shared co-authors 1

Gilbert S Omenn

and School of Public Health, University of Michigan ann arbor

Career Start Year 1965

Number of shared co-authors 0

row(s) 1 - 29 of 29

Domenica Taruscio

National Center for Rare Diseases, Istituto Superiore di Sanita

Co-authored papers 18

Hanns Lochm??ller

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 4

Stephen C Groft

National Center for Advancing Translational Sciences, National Institutes of Health

Co-authored papers 4

Yaffa Rubinstein

National Institutes of Health (NIH)

Co-authored papers 4

Yann Le Cam

Co-authored papers 3

Santiago Palacios

Co-authored papers 3

Benjamin C Blount

Co-authored papers 2

Stephen Naylor

ReNeuroGen LLC

Co-authored papers 2

Larry L Needham

Co-authored papers 2

Marco Roos

Leiden University Medical Center

Co-authored papers 2

Kate Bushby

Institute of Genetic Medicine, International Centre for Life

Co-authored papers 2

Lyn Schofield

King Edward Memorial Hospital for Women Perth

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Trinity Mahede

Co-authored papers 1

Mark Thompson

Leiden University Medical Center

Co-authored papers 1

Takeya Adachi

Keio University School of Medicine

Co-authored papers 1

Tarun Weeramanthri

University of Western Australia

Co-authored papers 1