Solving the unsolved rare diseases in Europe

por Graessner, Holm, Zurek, Birte, Hoischen, Alexander, Beltran, Sergi
Publicado 2021

Functional dissection of the ash2 and ash1 transcriptomes provides insights into the transcriptional basis of wing phenotypes and reveals conserved protein interactions

por Beltran, Sergi, Angulo, Mireia, Pignatelli, Miguel, Serras, Florenci, Corominas, Montserrat
Publicado 2007

RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase

por Estarás, Conchi, Fueyo, Raquel, Akizu, Naiara, Beltrán, Sergi, Martínez-Balbás, Marian A.
Publicado 2013

Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication

por Metzger, Julia, Tonda, Raul, Beltran, Sergi, Águeda, Lídia, Gut, Marta, Distl, Ottmar
Publicado 2014

Gene expression following induction of regeneration in Drosophila wing imaginal discs. Expression profile of regenerating wing discs

por Blanco, Enrique, Ruiz-Romero, Marina, Beltran, Sergi, Bosch, Manel, Punset, Adrià, Serras, Florenci, Corominas, Montserrat
Publicado 2010

Transcriptomics of In Vitro Immune-Stimulated Hemocytes from the Manila Clam Ruditapes philippinarum Using High-Throughput Sequencing

por Moreira, Rebeca, Balseiro, Pablo, Planas, Josep V., Fuste, Berta, Beltran, Sergi, Novoa, Beatriz, Figueras, Antonio
Publicado 2012

Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over

por Derdak, Sophia, Sabrautzki, Sibylle, de Angelis, Martin Hrabě, Gut, Marta, Gut, Ivo G, Beltran, Sergi
Publicado 2015

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

por Castro-Sánchez, Sheila, Álvarez-Satta, María, Tohamy, Mohamed A., Beltran, Sergi, Derdak, Sophia, Valverde, Diana
Publicado 2017

Thermal evolution of gene expression profiles in Drosophila subobscura

por Laayouni, Hafid, García-Franco, Francisco, Chávez-Sandoval, Blanca E, Trotta, Vincenzo, Beltran, Sergi, Corominas, Montserrat, Santos, Mauro
Publicado 2007

Conserved chromosomal clustering of genes governed by chromatin regulators in Drosophila

por Blanco, Enrique, Pignatelli, Miguel, Beltran, Sergi, Punset, Adrià, Pérez-Lluch, Silvia, Serras, Florenci, Guigó, Roderic, Corominas, Montserrat
Publicado 2008

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

por Metzger, Julia, Karwath, Matthias, Tonda, Raul, Beltran, Sergi, Águeda, Lídia, Gut, Marta, Gut, Ivo Glynne, Distl, Ottmar
Publicado 2015

The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo

por García, Alicia, Aguado, Encarnación, Martínez, Cecilia, Loska, Damian, Beltrán, Sergi, Valenzuela, Juan Luis, Garrido, Dolores, Jamilena, Manuel
Publicado 2020

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

por Musacchia, Francesco, Karali, Marianthi, Torella, Annalaura, Laurie, Steve, Policastro, Valeria, Pizzo, Mariateresa, Beltran, Sergi, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro
Publicado 2021

High-Throughput Sequence Analysis of Turbot (Scophthalmus maximus) Transcriptome Using 454-Pyrosequencing for the Discovery of Antiviral Immune Genes

por Pereiro, Patricia, Balseiro, Pablo, Romero, Alejandro, Dios, Sonia, Forn-Cuni, Gabriel, Fuste, Berta, Planas, Josep V., Beltran, Sergi, Novoa, Beatriz, Figueras, Antonio
Publicado 2012

Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo

por García, Alicia, Aguado, Encarni, Parra, Genis, Manzano, Susana, Martínez, Cecilia, Megías, Zoraida, Cebrián, Gustavo, Romero, Jonathan, Beltrán, Sergi, Garrido, Dolores, Jamilena, Manuel
Publicado 2018

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

por McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Publicado 2020

Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes

por Clop, Alex, Sharaf, Abdoallah, Castelló, Anna, Ramos-Onsins, Sebastián, Cirera, Susanna, Mercadé, Anna, Derdak, Sophia, Beltran, Sergi, Huisman, Abe, Fredholm, Merete, van As, Pieter, Sánchez, Armand
Publicado 2016

From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

por Laurie, Steve, Fernandez‐Callejo, Marcos, Marco‐Sola, Santiago, Trotta, Jean‐Remi, Camps, Jordi, Chacón, Alejandro, Espinosa, Antonio, Gut, Marta, Gut, Ivo, Heath, Simon, Beltran, Sergi
Publicado 2016

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

por Maceda, Iago, Álvarez, Miguel Martín, Athanasiadis, Georgios, Tonda, Raúl, Camps, Jordi, Beltran, Sergi, Camps, Agustí, Fàbrega, Jordi, Felisart, Josefina, Grané, Joan, Remón, José Luis, Serra, Jordi, Moral, Pedro, Lao, Oscar
Publicado 2021

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

por Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Publicado 2020