Sirpa Ala‐Mello

De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert et al. · Human Mutation · 2003 · 202 citations

Life Sciences, Genetics, Neurology +17

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

Yunxiang Liao, Liesbet Deprez, Snezana Maljevic et al. · Brain · 2010 · 184 citations

Life Sciences, Genetics, Neuroscience +17

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Iain McIntosh, Sandra D. Dreyer, Mark V. Clough et al. · The American Journal of Human Genetics · 1998 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

Georg Stoll, Olli Pietiläinen, Bastian Linder et al. · Nature Neuroscience · 2013 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Microtia in Finland: Comparison of characteristics in different populations

Samuli Suutarla, Jorma Rautio, Annukka Ritvanen et al. · International Journal of Pediatric Otorhinolaryngology · 2007 · 169 citations

Life Sciences, Genetics, Microevolution +1