Sixto García‐Miñaúr
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, Epigenetics and DNA Methylation, Bone health and treatments, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis(2008)197 cited
- → Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation(2007)127 cited
- → Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis(2008)98 cited
- → Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity(2006)77 cited
- → CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms(2010)70 cited
- → Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2(2003)50 cited
- → CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients(2009)48 cited
- → Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques(2011)48 cited
- → Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase(2017)38 cited
- → Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism(2010)33 cited