Javier Garcı́a-Planells

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Ana Cuesta, Laia Pedrola, Teresa Sevilla et al. · Nature Genetics · 2001 · 359 citations

Developmental Biology, Genetics, Experimental Neuropathology +5

Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel et al. · Human Mutation · 2011 · 92 citations · Full text

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

Mirna Castro, Javier Garcı́a-Planells, Eugènia Monrós et al. · Human Genetics · 2000 · 60 citations

Phenotype Analysis, Mendelian Disorder, Genetic Disorder +7

Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms

Jennifer Valero-García, María del Carmen González-Espinosa, Manuel Barrios et al. · PLoS ONE · 2019 · 43 citations · Full text

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 30 citations · Full text

New Patients, Mendelian Disorder, Genetic Disorder +9