Lisa Edelmann
Sema4 (United States)(US)Icahn School of Medicine at Mount Sinai(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Cancer Genomics and Diagnostics, Prenatal Screening and Diagnostics
Most-Cited Works
- → Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome(2010)695 cited
- → A common molecular basis for rearrangement disorders on chromosome 22q11(1999)451 cited
- → Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome(1999)377 cited
- → Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases(2016)318 cited
- → CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy(2007)298 cited
- → AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation(2001)177 cited
- → The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants(2018)