American College of Medical Genetics

Top Publications

Top Publications Authored or Co-Authored in "American College of Medical Genetics"

• Enhanced interpretation of newborn screening results without analyte cutoff values

  Genetics in Medicine, Volume 14, No. 7, Year 2012, Citations 115
• Rubinstein–Taybi syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 182, No. 12, Year 2020, Citations 43
• Empowering newborn screening programs in African countries through establishment of an international collaborative effort

  Journal of Community Genetics, Volume 11, No. 3, Year 2020, Citations 34
• Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

  American Journal of Medical Genetics, Part A, Volume 191, No. 9, Year 2023, Citations 6