Publicaciones
Desde los principios del Proyecto Genomas Raros en 2017, sus objetivos han sido tres:
- Identificar diagnósticos genéticos en favor de familias.
- Contribuir a los conocimientos del papel que desempeñan los genes en las enfermedades humanas.
- Diseñar métodos, identificar procesos y aplicar tecnologías (por ejemplo, la secuenciación del ARN y la secuenciación de lecturas largas) que mejoren las capacidades diagnósticas de la secuenciación del genoma.
A continuación encontrará enlaces a publicaciones y preimpresiones acerca de nuestro trabajo. Este trabajo no sería posible sin los esfuerzos y aportaciones de las familias que participan en el Proyecto Genomas Raros. Agradecemos la oportunidad de colaborar con usted en la búsqueda de los diagnósticos genéticos de usted o de sus seres queridos.
Última actualización: mayo de 2025
Pre-print
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder, 2024. PMID pre-print: 39148819.
Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity, 2024. PMID pre-print: 38978649.
Mitochondrial DNA variant detection in rare disease families by systematic analysis of exome, genome, and RNA sequencing data, 2024. PMID pre-print: 39763565.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders, 2024. PMID pre-print: 38562733.
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency, 2023. PMID pre-print: 37662408.
2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases, 2025. PMID: 40241304.
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL, 2025. PMID: 39985170.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection, 2025. PMID: 39862869.
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets, 2025. PMID: 39670433.
2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainability, 2024. PMID: 39669611.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model, 2024. PMID: 39531736.
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene, 2024. PMID: 39442041.
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome, 2024. PMID: 39359946.
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation, 2024. PMID: 39095936.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes, 2024. PMID: 39013459.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome, 2024. PMID: 38991538.
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency, 2024. PMID: 38868186.
Genome Sequencing for Diagnosing Rare Diseases, 2024. PMID: 38838312.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project, 2024. PMID: 38685113.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration, 2024. PMID: 38496416.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies, 2024. PMID: 38451290.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy, 2024. PMID: 38429495.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability, 2024. PMID: 38412861.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy, 2024. PMID: 38311799.
2023
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia, 2023. PMID: 38481935.
Advancing Understanding of Inequities in Rare Disease Genomics, 2023. PMID: 37517917.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder, 2023. PMID: 37057675.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly, 2023. PMID: 36724785.
2022
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain, 2022. PMID: 35934918.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort, 2022. PMID: 35579625.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency, 2022. PMID: 35094443.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes, 2022. PMID: 34954817.
2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy, 2021. PMID: 34415322.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating, 2021. PMID: 34245260.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders, 2021. PMID: 34186028.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation, 2021. PMID: 33665635.
DLG4-related synaptopathy: a new rare brain disorder, 2021. PMID: 33597769.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia, 2021. PMID: 33473207.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly, 2021. PMID: 33220177.