Francisco Martínez-Azorín

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 14

Top Venues

Journal of human genetics

American journal of medical genetics. Part A

Human genetics

Neurogenetics

This page only lists publications with an associated author ORCID identifier.

Publications

Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics 69 (5) (2024)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics 69 (5) (2024)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics (2024)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics 69 (5) (2024)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D Dinman, Bert B A de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorín
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2. Journal of human genetics (2023)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N Olson, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D Dinman, Bert B A de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorín
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2. Journal of human genetics (2023)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, Laura Hernández-Sánchez, Ana Martínez de Aragón, Eduardo López-Laso, Elena Martín-Hernández, Francisco Martínez-Azorín
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL. Human mutation 43 (10) (2022)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María de Los Ángeles Gómez-Cano, Ana Martínez de Aragón, Elena Martín-Hernández, Francisco Martínez-Azorín
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. American journal of medical genetics. Part A 182 (6) (2020)
Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M Lee, Bernd Auber, Alexander von Gise, Donald S Petrey, Holger Thiele, Lukas Cyganek, Maria Sabater Molina, Priyanka Ahimaz, Juan Cabezas-Herrera, Moisés Sorlí, Arne Zibat, Markus D Siegelin, Peter Burfeind, Christie M Buchovecky, Gerd Hasenfuss, Barry Honig, Yun Li, Alejandro D Iglesias, Bernd Wollnik
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Human genetics 139 (11) (2020)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, Ana Martínez de Aragón, Laura Hernández-Sánchez, Patricia Carnicero-Rodríguez, Elena Martín-Hernández, Francisco Martínez-Azorín
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. European journal of human genetics : EJHG 27 (9) (2019)
Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Marcello Bellusci, Christian Patrick Schaaf, Francisco Martínez-Azorín
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. Journal of human genetics 63 (4) (2018)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Jaime Cruz-Rojo, Lucía Garzón-Lorenzo, Patricia Carnicero-Rodríguez, Jaime Sánchez-Del Pozo, Francisco Martínez-Azorín
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. American journal of medical genetics. Part A 176 (11) (2018)
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Francisco Martínez-Azorín
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene. Human genetics 136 (7) (2017)
Elena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, Antoni Matilla-Dueñas, María Teresa García-Silva, Pilar Quijada-Fraile, Marc Corral-Juan, Pilar Tejada-Palacios, Rogelio Simón de Las Heras, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Neurogenetics 17 (4) (2016)

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Publication Activity (10 Years)

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Francisco Martínez-Azorín