Wiszniewski, Wojciech K.

Top Publications

Top Publications Authored or Co-Authored by "Wiszniewski, Wojciech K."

• Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

  American Journal of Human Genetics, Volume 110, No. 8, Year 2023, Citations 68
• GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 53
• Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

  American Journal of Human Genetics, Volume 105, No. 4, Year 2019, Citations 52
• Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

  American Journal of Human Genetics, Volume 105, No. 5, Year 2019, Citations 36
• Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

  Journal of Applied Genetics, Volume 64, No. 3, Year 2023, Citations 11