Newbury-Ecob, Ruth A.

Top Publications

Top Publications Authored or Co-Authored by "Newbury-Ecob, Ruth A."

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

  American Journal of Human Genetics, Volume 80, No. 2, Year 2007, Citations 309
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• Pseudotail as a feature of microphthalmia with linear skin defects syndrome

  Clinical Dysmorphology, Volume 20, No. 2, Year 2011, Citations 5