Andreas Tzschach
Universitat Autònoma de Barcelona(ES)University of Freiburg(DE)University Medical Center Freiburg(DE)Hospital Universitari Germans Trias i Pujol(ES)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Chromosomal and Genetic Variations
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → Deep sequencing reveals 50 novel genes for recessive cognitive disorders(2011)981 cited
- → Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation(2005)374 cited
- → STXBP1 encephalopathy(2016)310 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability(2012)271 cited