Elizabeth A. Geiger
University of Colorado Denver(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Chromosomal and Genetic Variations, Genomics and Rare Diseases, Metabolism and Genetic Disorders
Most-Cited Works
- → Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes(2009)530 cited
- → NKX2.5mutations in patients with congenital heart disease(2003)394 cited
- → High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications(2009)389 cited
- → Copy number variation at 1q21.1 associated with neuroblastoma(2009)358 cited
- → NKX2.5 Mutations in Patients With Tetralogy of Fallot(2001)341 cited
- → Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5(2013)222 cited
- → Kabuki syndrome genesKMT2DandKDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development(2015)189 cited
- → An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1(2013)130 cited
- → Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms(2007)125 cited
- → Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints(2010)109 cited