Mark Hannibal

机构：University of Michigan, C. S. Mott Children's Hospital · ORCID：0000-0002-9077-3837

发表论文 96 篇 · 总被引 5415 次 · h-index 35

代表论文

• Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome (2022 · Journal of Allergy and Clinical Immunology · 被引 132)
• Investigation ofNRXN1deletions: Clinical and molecular characterization (2013 · American Journal of Medical Genetics Part A · 被引 112)
• De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome (2015 · Human Molecular Genetics · 被引 85)
• De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome (2017 · The American Journal of Human Genetics · 被引 81)
• Spectrum of K V 2.1 Dysfunction in KCNB1 ‐Associated Neurodevelopmental Disorders (2019 · Annals of Neurology · 被引 69)
• Recurrent duplications of 17q12 associated with variable phenotypes (2015 · American Journal of Medical Genetics Part A · 被引 63)