Birmingham Women's Hospital

Top Publications

Top Publications Authored or Co-Authored in "Birmingham Women's Hospital"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

  Nature Genetics, Volume 38, No. 2, Year 2006, Citations 286
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222