Examinant per Autoria "Laurie, Steven, 1973-"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome(BioMed Central, 2020) Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle
Ítem Accés Obert Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease(Cell Press, 2020) Gungor, Serdal; Aranguren-Ibáñez, Álvaro; Laurie, Steven, 1973-; Beltran, Sergi; Vernos, Isabelle, 1959-; Horvath, Rita
Ítem Accés Obert Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion(Springer, 2020) McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita
Ítem Accés Obert Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females(MDPI, 2021) Maini, Ilenia; Caraffi, Stefano G.; Peluso, Francesca; Valeri, Lara; Nicoli, Davide; Laurie, Steven, 1973-; Baldo, Chiara; Zuffardi, Orsetta; Garavelli, Livia
Ítem Accés Obert COL4A1-related autosomal recessive encephalopathy in 2 Turkish children(Lippincott Williams & Wilkins, 2020) Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven, 1973-; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz
Ítem Accés Obert Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer(Springer, 2023) São José, Celina; Laurie, Steven, 1973-; Oliveira, Carla
Ítem Accés Obert Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant(Springer, 2020) Lochmüller, Hanns; Balaraju, Sunitha; Laurie, Steven, 1973-; Lochmüller, Hanns
Ítem Accés Obert From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing(Wiley, 2016) Laurie, Steven, 1973-; Fernández Callejo, Marcos; Marco Sola, Santiago; Trotta, Jean-Remi; Camps-Puchadas, Jordi; Chacón, Alejandro; Espinosa, Antonio; Gut, Marta; Gut, Ivo Glynne; Heath, Simon; Beltran, Sergi
Ítem Accés Obert Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant(Elsevier, 2022) Boer, Elke de; Yaldiz, Burcu; Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; Laurie, Steven, 1973-; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA
Ítem Accés Obert High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases(Oxford University Press, 2022) Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita
Ítem Accés Obert Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome(Wiley, 2019) Aguilera, Cinthia; Gabau, Elisabeth; Laurie, Steven, 1973-; Baena, Neus; Derdak, Sophia; Capdevila, Núria; Ramirez, Ariadna; Delgadillo, Veronica; García-Catalan, Maria Jesus; Brun i Gasca, Carme; Guitart, Miriam; Ruiz, Anna
Ítem Accés Obert Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity(Elsevier, 2020) Matalonga, Leslie; Laurie, Steven, 1973-; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
Ítem Accés Obert Improving genome-wide scans of positive selection by using protein isoforms of similar length(Oxford University Press, 2013) Villanueva Cañas, José Luis, 1984-; Laurie, Steven, 1973-; Albà Soler, Mar
Ítem Accés Obert Integrated analysis of germline and tumor DNA identifies new candidate genes involved in familial colorectal cancer(MDPI, 2019) Díaz-Gay, Marcos; Park, Solip; Parra Farré, Genís; Laurie, Steven, 1973-; Beltran, Sergi; Castellví Bel, Sergi
Ítem Accés Obert Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples(Nature Research, 2023) Wijngaard, Robin; Laurie, Steven, 1973-; Gilissen, Christian
Ítem Només Metadades Mutation, duplication, and selection in mammalian genomes(Universitat Pompeu Fabra, 2013-09-06T15:04:40Z) Laurie, Steven, 1973-; Albà Soler, Mar; Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
Ítem Accés Obert New genes involved in Angelman syndrome-like: expanding the genetic spectrum(Public Library of Science (PLoS), 2021) Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafré, Ariadna; Brun i Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Laurie, Steven, 1973-; Derdak, Sophia; Padilla, Natàlia; Cruz, Xavier de la; Capdevila, Núria; Spataro, Nino, 1984-; Baena, Neus; Guitart, Miriam; Ruiz, Anna
Ítem Accés Obert New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)(Oxford University Press, 2022) Corral Juan, Marc; Casquero, Pilar; Giraldo-Restrepo, Natalia; Laurie, Steven, 1973-; Martinez-Piñeiro, Alicia; Mateo-Montero, Raidili Cristina; Ispierto, Lourdes; Vilas, Dolores; Tolosa, Eduard; Volpini, Victor; Alvarez-Ramo, Ramiro; Sánchez, Ivelisse; Matilla Dueñas, Antoni
Ítem Accés Obert Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases(Elsevier, 2023) Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi
Ítem Accés Obert Severe neurodevelopmental disease caused by a homozygous TLK2 variant(Springer, 2020) Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita