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Human Molecular Genetics|August 14, 2003
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangementsLluis Armengol, Miguel Angel Pujana, Joseph Cheung, et al.Molecular Biology and Evolution|December 10, 2008
Origin of primate orphan genes: a comparative genomics approachMacarena Toll-Riera, Nina Bosch, Nicolás Bellora, et al.American Journal of Medical Genetics. Part A|June 25, 2013
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplicationMaria Juliana Ballesta-Martínez, Vanesa López-González, Lluis Armengol Dulcet, et al.Human Genetics|July 14, 2006
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genomeViolaine Goidts, David N Cooper, Lluis Armengol, et al.Human Genetics|January 6, 2006
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridizationViolaine Goidts, Lluis Armengol, Werner Schempp, et al.Annals of Clinical and Translational Neurology|May 5, 2020
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathyAna T Marcos, Elena Martín-Doncel, Patricia Morejón-García, et al.Neuromuscular Disorders : NMD|June 17, 2023
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variantPatricia Blanco-Arias, Inmaculada Medina Martínez, Luisa Arrabal Fernández, et al.Medicina Clinica|February 25, 2017
Recommendations for the use of microarrays in prenatal diagnosisJavier Suela, Isabel López-Expósito, María Eugenia Querejeta, et al.Genes|June 27, 2024
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?Nikola Ilic, Nina Maric, Ales Maver, et al.Nature Genetics|November 23, 2006
Genome assembly comparison identifies structural variants in the human genomeRazi Khaja, Junjun Zhang, Jeffrey R MacDonald, et al.Pageof 2