Sixto García‐Miñaúr

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan et al. · Nature Genetics · 2008 · 195 citations

Somatic Variant, Cancer Pathology, Mendelian Disorder +9

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Bregje W.M. van Bon, David A. Koolen, Renato Borgatti et al. · Journal of Medical Genetics · 2008 · 98 citations

Frontometaphyseal dysplasia: Mutations in <i>FLNA</i> and phenotypic diversity

Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan et al. · American Journal of Medical Genetics Part A · 2006 · 77 citations

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

Sixto García‐Miñaúr, Lampros A. Mavrogiannis, Sahan V. Rannan‐Eliya et al. · European Journal of Human Genetics · 2003 · 50 citations · Full text

Cleidocranial Dysplasia, Developmental Anomaly, Parietal Foramina +7

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Valeria Romanelli, Heloisa Meneses, Luis Fernández et al. · European Journal of Human Genetics · 2011 · 48 citations · Full text

Fine Mapping, Recombination Breakpoints, Genetic Disorder +11