Primary trimethylaminuria syndrome: more than an unpleasant odor von Antoñanzas, Javier, Querol‐Cisneros, Elena, Alkorta‐Aranburu, Gorka, Patiño‐García, Ana, España, Agustín

Volltext

Familial primary cutaneous amyloidosis: Caspase activation may be involved in amyloid formation von Antoñanzas, Javier, Pelacho‐Samper, Beatriz, Alkorta‐Aranburu, Gorka, Echeveste, Jose I., Alonso, Agustín España

Volltext

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 von Infante, Elena, Alkorta‐Aranburu, Gorka, El‐Gharbawy, Areeg

Volltext

Next-generation sequencing of bile cell-free DNA for the early detection of patients with malignant biliary strictures von Arechederra, Maria, Rullán, María, Amat, Irene, Oyon, Daniel, Zabalza, Lucia, Elizalde, Maria, Latasa, M Ujue, Mercado, Maria R, Ruiz-Clavijo, David, Saldaña, Cristina, Fernández-Urién, Ignacio, Carrascosa, Juan, Jusué, Vanesa, Guerrero-Setas, David, Zazpe, Cruz, González-Borja, Iranzu, Sangro, Bruno, Herranz, Jose M, Purroy, Ana, Gil, Isabel, Nelson, Leonard J, Vila, Juan J, Krawczyk, Marcin, Zieniewicz, Krzysztof, Patkowski, Waldemar, Milkiewicz, Piotr, Cubero, Francisco Javier, Alkorta-Aranburu, Gorka, G Fernandez-Barrena, Maite, Urman, Jesus M, Berasain, Carmen, Avila, Matias A

Volltext

The genetic architecture of adaptations to high altitude in Ethiopia von Alkorta-Aranburu, Gorka, Beall, Cynthia M, Witonsky, David B, Gebremedhin, Amha, Pritchard, Jonathan K, Di Rienzo, Anna

Volltext

Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency von Hancock, Angela M, Witonsky, David B, Ehler, Edvard, Alkorta-Aranburu, Gorka, Beall, Cynthia, Gebremedhin, Amha, Sukernik, Rem, Utermann, Gerd, Pritchard, Jonathan, Coop, Graham, Di Rienzo, Anna

Volltext

Gut microbiota produces biofilm-associated amyloids with potential for neurodegeneration von Fernández-Calvet, Ariadna, Matilla-Cuenca, Leticia, Izco, María, Navarro, Susanna, Serrano, Miriam, Ventura, Salvador, Blesa, Javier, Herráiz, Maite, Alkorta-Aranburu, Gorka, Galera, Sergio, Ruiz de los Mozos, Igor, Mansego, María Luisa, Toledo-Arana, Alejandro, Alvarez-Erviti, Lydia, Valle, Jaione

Volltext

Adaptations to climate-mediated selective pressures in humans von Hancock, Angela M, Witonsky, David B, Alkorta-Aranburu, Gorka, Beall, Cynthia M, Gebremedhin, Amha, Sukernik, Rem, Utermann, Gerd, Pritchard, Jonathan K, Coop, Graham, Di Rienzo, Anna

Volltext

Adaptations to new environments in humans: the role of subtle allele frequency shifts von Hancock, Angela M., Alkorta-Aranburu, Gorka, Witonsky, David B., Di Rienzo, Anna

Volltext

Building on the clinical applicability of ctDNA analysis in non-metastatic pancreatic ductal adenocarcinoma von Labiano, Ibone, Huerta, Ana E., Alsina, Maria, Arasanz, Hugo, Castro, Natalia, Mendaza, Saioa, Lecumberri, Arturo, Gonzalez-Borja, Iranzu, Guerrero-Setas, David, Patiño-Garcia, Ana, Alkorta-Aranburu, Gorka, Hernández-Garcia, Irene, Arrazubi, Virginia, Mata, Elena, Gomez, David, Viudez, Antonio, Vera, Ruth

Volltext

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA von Sanyoura, May, Jacobsen, Laura, Carmody, David, del Gaudio, Daniela, Alkorta-Aranburu, Gorka, Arndt, Kelly, Hu, Ying, Kobiernicki, Frances, Kusmartseva, Irina, Atkinson, Mark A, Philipson, Louis H, Schatz, Desmond, Campbell-Thompson, Martha, Greeley, Siri Atma W

Volltext

Histaminergic angioedema: similarities and differences between isolated angioedema and chronic urticaria with angioedema von Ferrer, Marta, Brescó, Marina Sabaté, Rodriguez-Garijo, Nuria, Alkorta-Aranburu, Gorka, Baeza, Maria, Guilarte, Mar, Herrera-Lasso Regás, Valeria, Labrador-Horrillo, Moises, Veleiro, Beatriz, Gil Sanchez, María Pilar

Volltext

Performance comparison of two next-generation sequencing panels to detect actionable mutations in cell-free DNA in cancer patients von Macías, Mónica, Cañada-Higueras, Eva, Alegre, Estibaliz, Bielsa, Arancha, Gracia, Javier, Patiño-García, Ana, Ferrer-Costa, Roser, Sendino, Teresa, Andueza, María P., Mateos, Beatriz, Rodríguez, Javier, Corral, Jesús, Gúrpide, Alfonso, Lopez-Picazo, José M., Perez-Gracia, Jose L., Gil-Bazo, Ignacio, Alkorta-Aranburu, Gorka, González, Álvaro

Volltext

PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population von Livne, Oren E, Han, Lide, Alkorta-Aranburu, Gorka, Wentworth-Sheilds, William, Abney, Mark, Ober, Carole, Nicolae, Dan L

Volltext

The Dynamic Use of EGFR Mutation Analysis in Cell-Free DNA as a Follow-Up Biomarker during Different Treatment Lines in Non-Small-Cell Lung Cancer Patients von Perez-Gracia, Jose L., González, Alvaro, Gil-Bazo, Ignacio, Gúrpide, Alfonso, Andueza, Maria P., Mateos, Beatriz, Patiño-García, Ana, Alkorta-Aranburu, Gorka, Alegre, Estibaliz, Macías, Mónica, Lopez-Picazo, Jose M.

Volltext

Does arterial hypertension influence the onset of Huntington's disease? von Valcárcel-Ocete, Leire, Fullaondo, Asier, Alkorta-Aranburu, Gorka, García-Barcina, María, Roos, Raymund A C, Hjermind, Lena E, Saft, Carsten, Frontali, Marina, Reilmann, Ralf, Rickards, Hugh, Zubiaga, Ana M, Aguirre, Ana

Volltext

Liquid biopsy for monitoring minimal residual disease in localized and locally-advanced non-small cell lung cancer after radical-intent treatment von Aguilar, Héctor, López-Roldán, Belén, Vilalta-Lacarra, Anna, Alkorta-Aranburu, Gorka, Claramunt, R., López-Guerrero, José Antonio, Sandiego, S., Gil-Bazo, I.

Volltext

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial von Rosa-Rosa, Juan Manuel, Cuenca, Isabel, Medina, Alejandro, Vázquez, Iria, Sánchez-delaCruz, Andrea, Buenache, Natalia, Sánchez, Ricardo, Jiménez, Cristina, Rosiñol, Laura, Gutiérrez, Norma C., Ruiz-Heredia, Yanira, Barrio, Santiago, Oriol, Albert, Martin-Ramos, Maria-Luisa, Blanchard, María-Jesús, Ayala, Rosa, Ríos-Tamayo, Rafael, Sureda, Anna, Hernández, Miguel-Teodoro, de la Rubia, Javier, Alkorta-Aranburu, Gorka, Agirre, Xabier, Bladé, Joan, Mateos, María-Victoria, Lahuerta, Juan-José, San-Miguel, Jesús F., Calasanz, María-José, Garcia-Sanz, Ramón, Martínez-Lopez, Joaquín

Volltext

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure von Henarejos-Castillo, Ismael, Aleman, Alejandro, Martinez-Montoro, Begoña, Gracia-Aznárez, Francisco Javier, Sebastian-Leon, Patricia, Romeu, Monica, Remohi, Jose, Patiño-Garcia, Ana, Royo, Pedro, Alkorta-Aranburu, Gorka, Diaz-Gimeno, Patricia

Volltext

Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study von Garcia-Casado, Zaida, Oaknin, Ana, Mendiola, Marta, Alkorta-Aranburu, Gorka, Antunez-Lopez, Jose Ramon, Moreno-Bueno, Gema, Palacios, Jose, Yubero, Alfonso, Marquez, Raul, Gallego, Alejandro, Sanchez-Heras, Ana Beatriz, Lopez-Guerrero, Jose Antonio, Perez-Segura, Cristina, Barretina-Ginesta, Pilar, Alarcon, Jesus, Gaba, Lydia, Marquez, Antonia, Matito, Judit, Cueva, Juan, Palacio, Isabel, Iglesias, Maria, Arcusa, Angels, Sanchez-Lorenzo, Luisa, Guerra-Alia, Eva, Romero, Ignacio, Vivancos, Ana

Volltext