Jeffery, Stephen C.C.

Top Publications

Top Publications Authored or Co-Authored by "Jeffery, Stephen C.C."

• Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum

  Human Genetics, Volume 122, No. 3-4, Year 2007, Citations 36
• Angiotensin converting enzyme insertion/deletion polymorphism: ASSOCIATION with ethnic origin

  Journal of Hypertension, Volume 12, No. 8, Year 1994, Citations 8
• Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

  BMC Cardiovascular Disorders, Volume 19, No. 1, Article 174, Year 2019, Citations 6
• Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 4