Gahl, William Allen

Top Publications

Top Publications Authored or Co-Authored by "Gahl, William Allen"

• Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

  New England Journal of Medicine, Volume 360, No. 19, Year 2009, Citations 501
• KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

  Brain, Volume 143, No. 11, Year 2020, Citations 100
• Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12

  Human Mutation, Volume 34, No. 10, Year 2013, Citations 71
• Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

  Molecular Genetics and Metabolism, Volume 113, No. 3, Year 2014, Citations 54
• Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

  Kidney International, Volume 89, No. 6, Year 2016, Citations 49