Mirja Somer

Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer

Laura Lammi, Sirpa Arte, Mirja Somer et al. · The American Journal of Human Genetics · 2004 · 682 citations · Full text

Oncology, Somatic Variant, Medicine +6

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Richard Crook, Auli Verkkoniemi, Jordi Pérez‐Tur et al. · Nature Medicine · 1998 · 346 citations

Unusual Plaques, Alzheimer's Disease, Creutzfeldt-jakob Disease +10

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny‐Ratajczak et al. · The American Journal of Human Genetics · 1999 · 258 citations · Full text

Systems Biology, Mendelian Disorder, Genetic Disorder +8

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen et al. · Nature Genetics · 2005 · 241 citations

Autoimmune Disease, Genetic Disorder, Genetics +8

A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region

Tracy J. Wright, Darrell Ricke, Karen Denison et al. · Human Molecular Genetics · 1997 · 237 citations · Full text