Javier Garcı́a-Planells
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease(2001)359 cited
- → Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex(2011)92 cited
- → Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients(2000)60 cited
- → Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms(2019)43 cited
- → Ancient origin of the CAG expansion causing Huntington disease in a Spanish population(2005)27 cited
- → The Reproductive Journey in the Genomic Era: From Preconception to Childhood(2020)27 cited
- → GEM, a cluster of repetitive sequences in the Drosophila subobscura genome(1999)15 cited
- → Recomendaciones para el uso de microarrays en el diagnóstico prenatal(2017)11 cited
- → Molecular Evolution of P Transposable Elements in the Genus Drosophila. II. The obscura Species Group(1998)11 cited
- → Genetics of the SCA6 gene in a large family segregating an autosomal dominant “pure” cerebellar ataxia(1999)10 cited