Lisa G. Shaffer
McMaster University(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Chromosomal and Genetic Variations, Congenital heart defects research, Genetic Syndromes and Imprinting
Most-Cited Works
- → Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis(2012)1,410 cited
- → A copy number variation morbidity map of developmental delay(2011)1,390 cited
- → Chromosome Abnormalities and Genetic Counseling(2011)865 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants(2012)626 cited
- → Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries(2012)594 cited
- → Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations