Publications by authors named "Ines Hernando"

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Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.
Olivia K C Spivack, Mirthe J Klein Haneveld, Simone Louisse, Graham Slater, Inés Hernando

J Community Genet· February 2025

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Together4RD position statement on collaboration between European reference networks and industry.
Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout

Orphanet J Rare Dis· September 2023

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E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
Jonathan Pini, Gabriele Siciliano, Pauline Lahaut, Serge Braun, Sandrine Segovia-Kueny

J Neuromuscul Dis· December 2021

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Our greatest untapped resource: our patients.
Matt Bolz-Johnson, Tom Kenny, Yann Le Cam, Ines Hernando

J Community Genet· April 2021

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Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Rebeca Lorca, Luca Pannone, Elías Cuesta-Llavona, Gianfranco Bocchinfuso, Julian Rodríguez-Reguero, Inés Hernando

Clin Genet· March 2021

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Marta Diñeiro, Raquel Capín, Guadalupe Á Cifuentes, Beatriz Fernández-Vega, Eva Villota, Inés Hernando

Acta Ophthalmol· December 2020

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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Massimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, Núria Muñoz-Subirana, Benjamin Rodriguez-Santiago, Inés Hernando

J Med Genet· April 2020

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Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Rubén Cabanillas, Marta Diñeiro, Guadalupe A Cifuentes, David Castillo, Patricia C Pruneda, Inés Hernando

BMC Med Genomics· July 2018

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A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
Beatriz Tavira, Juan Gómez, Serafín Málaga, Fernando Santos, Javier Fernández-Aracama, Inés Hernando

Gene· April 2015

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Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy.
Renee Ribacoba, Manuel Menendez-Gonzalez, Ines Hernando, Javier Salas, Maria Luisa Giros

Int Arch Med· April 2008

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