Robin, Nathaniel H.

Top Publications

Top Publications Authored or Co-Authored by "Robin, Nathaniel H."

• Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

  American Journal of Medical Genetics, Part A, Volume 155, No. 10, Year 2011, Citations 166
• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

  Journal of Medical Genetics, Volume 59, No. 10, Year 2022, Citations 72
• The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

  Human Genetics, Volume 141, No. 3-4, Year 2022, Citations 17
• Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  Genetics in Medicine, Volume 24, No. 7, Year 2022, Citations 17
• Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

  American Journal of Medical Genetics, Part A, Volume 143, No. 15, Year 2007, Citations 12