Ana María Cobo

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

PIP ₂ binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

Matthew R. Donaldson, Judy L. Jensen, Martin Tristani‐Firouzi et al. · Neurology · 2003 · 186 citations

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

Juan José Poza, A. S�enz, A. Mart�nez-Gil et al. · Annals of Neurology · 1999 · 135 citations

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.

Tetsuo Ashizawa, Maria Anvret, Montserrat Baiget et al. · PubMed · 1994 · 134 citations

A novel CRYAB mutation resulting in multisystemic disease

Sabrina Sacconi, Léonard Feasson, Jean Christophe Antoine et al. · Neuromuscular Disorders · 2011 · 106 citations

Genetic Disorder, Genetics, Pathogenesis +6