Marín-Valencia, Isaac

Top Publications

Top Publications Authored or Co-Authored by "Marín-Valencia, Isaac"

• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Nature Genetics, Volume 49, No. 3, Year 2017, Citations 66
• Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

  American Journal of Human Genetics, Volume 101, No. 3, Year 2017, Citations 41
• A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

  Journal of Medical Genetics, Volume 55, No. 1, Year 2018, Citations 37
• PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

  Annals of Neurology, Volume 80, No. 1, Year 2016, Citations 36