Brad Angle

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 634 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim et al. · The American Journal of Human Genetics · 2006 · 304 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS)

Barbara K. Burton, Charlene J. Schulz, Brad Angle et al. · Prenatal Diagnosis · 1995 · 176 citations

Medicine, Obstetrics, Pediatrics +8

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 140 citations · Full text

Medicine, Neurology, Pharmacotherapy +16

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen et al. · Human Molecular Genetics · 2011 · 137 citations · Full text

Life Sciences, Genetics, Molecular Biology +15