I. Lorda

发表

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, L. Tian, M. Cortón, 2018, Scientific Reports.

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene

S. Rodríguez de Córdoba, E. Goicoechea de Jorge, S. R. Córdoba, 2002, Journal of medical genetics.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, M. Cortón, C. Ayuso, 2018, Scientific Reports.

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report

Raul Fernandez-Prado, C. González-Enguita, I. Lorda, 2019, Diagnostic Pathology.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

C. Rivolta, M. Cortón, C. Ayuso, 2016, PloS one.

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, Scientific Reports.

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS‐peripherin gene in autosomal dominant macular dystrophies in Spanish families

C. Ayuso, C. Ramos, A. Giménez, 2001, Human mutation.

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.

M. Chagoyen, Nerea Carvajal, Mónica Mártinez-García, 2016, Gene.

De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.

E. Gómez-Tortosa, M. J. Sainz, I. Lorda, 2021, Journal of Alzheimer's disease : JAD.

Three novel mutations (P215L, T289P, and 3811‐2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

C. Ayuso, A. Giménez, M. Carballo, 2000, Human mutation.

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer

C. Lázaro, O. Díez, G. Matthijs, 2018, Medicina Clínica (English Edition).