Schroth, Jana

Top Publications

Top Publications Authored or Co-Authored by "Schroth, Jana"

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

  Science, Volume 338, No. 6105, Year 2012, Citations 272
• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  Science Translational Medicine, Volume 4, No. 138, Article 138ra78, Year 2012, Citations 267
• Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

  Nature Genetics, Volume 47, No. 7, Year 2015, Citations 185
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Nature Genetics, Volume 44, No. 2, Year 2012, Citations 169