Gawliński, Paweł

Top Publications

Top Publications Authored or Co-Authored by "Gawliński, Paweł"

• 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
• 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
• De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

  International Journal of Molecular Sciences, Volume 23, No. 2, Article 692, Year 2022, Citations 10