Jaakko Ignatius

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 623 citations · Full text

Severe Mental Retardation, Mendelian Disorder, Psychiatry +12

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

Louise J. Campbell, Allyson C. Potter, Jaakko Ignatius et al. · The American Journal of Human Genetics · 1997 · 318 citations · Full text

Genomic Variation, Genetic Analysis, Genetic Diseases +9

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy

Nanda R. Rodrigues, Nicholas Owen, Kevin Talbot et al. · Human Molecular Genetics · 1995 · 225 citations

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Heidi O. Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi et al. · Nature Genetics · 2008 · 196 citations · Full text

Molecular Neuroscience, Developmental Biology, Mendelian Disorder +9