Francisco Martı́nez

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 613 citations · Full text

Chromatin, Psychiatry, Genetic Disorder +11

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner et al. · European Journal of Human Genetics · 2003 · 173 citations · Full text

Spermatogenesis, Infertility, Developmental Biology +8

Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat

Eugènia Monrós, María Dolores Moltó, Francisco Martı́nez et al. · The American Journal of Human Genetics · 1997 · 173 citations · Full text

Genetic Analysis, Genetic Disorder, Genetics +9

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

S Bort, Eva Nelis, Vincent Timmerman et al. · Human Genetics · 1997 · 137 citations

Mutational Analysis, Mendelian Disorder, Genetic Disorder +7

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Francisco Martı́nez, Alfonso Caro‐Llopis, Mónica Rosello et al. · Journal of Medical Genetics · 2016 · 128 citations