Hunter Health

Top Publications

Top Publications Authored or Co-Authored in "Hunter Health"

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Case-control study of cleft lip or palate after maternal use of topical corticosteroids during pregnancy

  American Journal of Medical Genetics, Volume 120 A, No. 4, Year 2003, Citations 68
• Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

  Human Molecular Genetics, Volume 19, No. 7, Article ddq008, Year 2010, Citations 60