A. Ordóñez-Ugalde

发表

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

A. Carracedo, Á. Carracedo, M. Sobrido, 2014, Applied & translational genomics.

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

Á. Carracedo, F. Grandas, J. Amigo, 2017, Molecular Diagnosis & Therapy.

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

M. Desco, Y. Alemán-Gómez, F. Grandas, 2022, Journal of Neurology.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

R. Schüle, M. Synofzik, E. Battaloğlu, 2017, Clinical genetics.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

L. Fachal, A. Vega, A. Ordóñez-Ugalde, 2019, Molecular genetics & genomic medicine.

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

A. Salas, A. Gómez-Carballa, J. Pardo-Seco, 2019, Scientific Reports.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Patrizia Rizzu, Ángel Carracedo, Peter Heutink, 2017, American journal of human genetics.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

D. Geschwind, P. Svenningsson, A. Aguzzi, 2013, Nature Genetics.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

P. Stankiewicz, J. Lupski, J. Scull, 2014, American journal of human genetics.

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

M. Desco, F. Grandas, Susanna Carmona, 2021, Journal of Neurology.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American journal of human genetics.

The geographic mosaic of Ecuadorian Y-chromosome ancestry.

A. Salas, U. Toscanini, A. Gómez-Carballa, 2018, Forensic science international. Genetics.

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

A. Salas, A. Gómez-Carballa, J. Pardo-Seco, 2019, Scientific Reports.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American Journal of Human Genetics.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

P. Heutink, G. Rouleau, P. Rizzu, 2017, American journal of human genetics.

The geographic mosaic of Ecuadorian Y-chromosome ancestry.

U. Toscanini, A. Gómez-Carballa, J. Pardo-Seco, 2018, Forensic science international. Genetics.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

S. Züchner, Michael A. Gonzalez, E. Battaloğlu, 2017, Clinical genetics.