Guillermo Antiñolo

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice et al. · The American Journal of Human Genetics · 2010 · 241 citations · Full text

Somatic Variant, Noncoding Ret Mutations, Mendelian Disorder +10

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Mai M. Abd El-Aziz, Isabel Barragán, C. O'Driscoll et al. · Nature Genetics · 2008 · 209 citations · Full text

Biology, Developmental Biology, Developmental Genetics +10

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 163 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +9

Specific polymorphisms in the <i>RET</i>proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

Salud Borrego, María Eugenia Sáez, Oliver Gimm et al. · Journal of Medical Genetics · 1999 · 146 citations · Full text

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs et al. · Molecular Autism · 2015 · 134 citations · Full text