Gregory Costain
Rocky Vista University(US)Boston Children's Hospital(US)Harvard University(US)University of Toronto(CA)Great Ormond Street Hospital(GB)Hospital for Sick Children(CA)Hospital for Sick Children Pediatric Center(US)SickKids Foundation(CA)University College London(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, BRCA gene mutations in cancer
Most-Cited Works
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Reappraisal of Reported Genes for Sudden Arrhythmic Death(2018)363 cited
- → Practical guidelines for managing adults with 22q11.2 deletion syndrome(2015)313 cited
- → Genomic architecture of autism from comprehensive whole-genome sequence annotation(2022)264 cited
- → A large data resource of genomic copy number variation across neurodevelopmental disorders(2019)198 cited
- → Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature(2014)189 cited