Breuss, Martin W.

Top Publications

Top Publications Authored or Co-Authored by "Breuss, Martin W."

• Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

  American Journal of Human Genetics, Volume 97, No. 6, Year 2015, Citations 69
• A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

  European Journal of Human Genetics, Volume 29, No. 2, Year 2021, Citations 46
• Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

  American Journal of Human Genetics, Volume 99, No. 1, Year 2016, Citations 43
• Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

  Neuron, Volume 109, No. 2, Year 2021, Citations 37
• Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

  American Journal of Human Genetics, Volume 103, No. 2, Year 2018, Citations 22