Jaakko Ignatius
The University of Texas MD Anderson Cancer Center(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, Genetic Neurodegenerative Diseases, RNA modifications and cancer, Mitochondrial Function and Pathology
Most-Cited Works
- → Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.(1997)1,194 cited
- → Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males(2005)624 cited
- → Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype(1997)318 cited
- → Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy(1995)228 cited
- → Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease(2008)197 cited
- → Update on Kleefstra Syndrome(2011)178 cited
- → Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development