ACMG Standards and Guidelines in 2017

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

• Marzia Pasquali
• Chunli Yu
• Bradford Coffee

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

• Erin T Strovel
• Tina M Cowan
• Barry Wolf

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

• J. Daniel Sharer
• Olaf Bodamer
• Sarah Young