K. O. J. Simola

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Alexandra Götz, Henna Tyynismaa, Liliya Euro et al. · The American Journal of Human Genetics · 2011 · 252 citations · Full text

Cardiomyopathy, Mendelian Disorder, Mitochondrial Function +6

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer et al. · Human Molecular Genetics · 2008 · 128 citations · Full text

Genetics, Genomic Mechanism, Pathology +23

The β-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus

Tom Glaser, William H. Lewis, G.A.P. Bruns et al. · Nature · 1986 · 120 citations

Further Definition, Follicle-stimulating Hormone, Pathology +5

Submicroscopic genomic alterations in Silver–Russell syndrome and Silver–Russell-like patients

Katariina Hannula‐Jouppi, M. Puoskari, Ingegerd Fransson et al. · Journal of Medical Genetics · 2009 · 113 citations