Germán Rodríguez Criado
MEP Equine Solutions (United States)(US)
Publications by Year
Research Areas
Congenital heart defects research, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Infant Nutrition and Health
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum(2003)103 cited
- → Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder(2018)32 cited
- → Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome(2005)27 cited
- → X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells(2018)24 cited
- → Clinical variability of type II sialidosis by C808T mutation(2003)17 cited
- → Infantile systemic hyalinosis: A clinicopathological study(2004)12 cited
- → Agenesia del cuerpo calloso y crisis epilépticas(1999)5 cited
- [Desquamative interstitial pneumonia in an infant].(1988)
- Familial deletion of 22q11.2.(1999)