P. Romero Duque
ORCID:
0000-0003-3509-1320
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About
Contact & Profiles
A5065420198
Research Areas
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Cancer, Hypoxia, and Metabolism
- Hereditary Neurological Disorders
- Ubiquitin and proteasome pathways
- Neurological diseases and metabolism
Vall d'Hebron Institut de Recerca
2019
Gemma Bullich
Leslie Matalonga
Montserrat Pujadas
Anastasios Papakonstantinou
Davide Piscia
and 95
more
Raúl Tonda
Rafael Artuch
P. Gallano
Glòria Garrabou
Juan R. González
Daniel Grinberg
Míriam Guitart
Steven Laurie
Conxi Lázaro
Cristina Luengo
Ramon Martı́
Montserrat Milà
David Ovelleiro
Genı́s Parra
Aurora Pujol
Eduardo F. Tizzano
Alfons Macaya
Francesc Palau
Antònia Ribes
Luis A. Pérez‐Jurado
Sergi Beltrán
Agatha Schlüter
Agustí Rodríguez‐Palmero
Alejandro Cáceres
A. Nascimento
Àngels García‐Cazorla
Anna M. Cueto‐González
Anna Marcé‐Grau
A. Lô
Antonio Federico Martínez‐Monseny
Aurora Sánchez
Belén de la Fuente García
Belén Pérez‐Dueñas
Bernat Gel
Berta Fusté
Carles Hernández-Ferrer
Carlos Casasnovas
C. Ortez
César Arjona
Cristina Hernando‐Davalillo
Daniel Natera‐de Benito
Daniel Picó Amador
David Gómez‐Andrés
Dèlia Yubero
Dolors Pelegrí-Sisó
Edgard Verdura
Elena García‐Arumí
Elisabeth Castellanos
Elisabeth Gabau
Ester Tobías
Fermina López‐Grondona
Francesc Cardellach
Francesc Josep García‐García
Francina Munell
Frederic Tort
Gemma Aznar
Gemma Olivé-Cirera
Gemma Tell‐Martí
Gerard Muñoz-Pujol
Ida Paramonov
Ignacio Blanco
Irene Madrigal
Irene Valenzuela
Marta Gut
Ivon Cuscó
Jean-Rémi Trotta
Jordi Cruz
Jordi Díaz‐Manera
José C. Milisenda
Josep Ma Grau
Judit García‐Villoria
Judith Armstrong
Judith Cantó
Júlia Sala‐Coromina
Laia Rodríguez‐Revenga
Laura Alías
Laura Gort
Lídia González-Quereda
Mar Costa
Marcos Fernández-Callejo
Marcos López‐Sánchez
María Isabel Álvarez‐Mora
Marta Gut
Mercedes Serrano
Miquel Raspall‐Chaure
Mireia del Toro
Mónica Bayés
Neus Baena Díez
Nino Spataro
Núria Capdevila
Olatz Ugarteburu
Patricia Muñoz‐Cabello
P. Romero Duque
Raquel Rabionet
Ricard Rojas‐García
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation future reinterpretation. The Undiagnosed Rare Disease Program Catalonia project collated previously inconclusive good quality (panels, exomes, genomes) standardized phenotypic profiles from 323 families (543 individuals) with...
10.1016/j.jmoldx.2022.02.003
article
EN
cc-by-nc-nd
Journal of Molecular Diagnostics
2022-05-01
10.1016/j.nmd.2019.06.269
article
EN
Neuromuscular Disorders
2019-09-29
10.1016/j.nmd.2019.06.570
article
EN
Neuromuscular Disorders
2019-09-29
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