David Skidmore
Dalhousie University(CA)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital limb and hand anomalies
Most-Cited Works
- → The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists(2015)234 cited
- → Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome(2011)171 cited
- → Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies(2011)145 cited
- → Investigation ofNRXN1deletions: Clinical and molecular characterization(2013)111 cited
- → Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis(2012)110 cited
- → Carrier Screening for Thalassemia and Hemoglobinopathies in Canada(2008)97 cited
- → Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease(2010)70 cited
- → Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1‐pyrroline‐5‐carboxylate synthase (P5CS)(2011)69 cited
- → Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies(2011)67 cited
- → Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies(2011)63 cited