Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

(2018) Alicia R. Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics and mechanisms leading to human cortical malformations

(2018) Delfina M. Romero et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

(2016) Nataliya Di Donato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

(2016) S Riazuddin et al.   MOLECULAR PSYCHIATRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The genetics of lissencephaly

(2014) Andrew E. Fry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Making headway with genetic diagnostics of intellectual disabilities

(2013) M.H. Willemsen et al.   CLINICAL GENETICS

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

(2013) Anne Polvi et al.   HUMAN MUTATION

Neuronal caspase 2 activity and function requires RAIDD, but not PIDD

(2012) Elena M. Ribe et al.   BIOCHEMICAL JOURNAL

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Impaired antioxidant defence and accumulation of oxidative stress in caspase-2-deficient mice

(2012) S Shalini et al.   CELL DEATH AND DIFFERENTIATION

Frontotemporal pachygyria-Two new patients

(2012) Kristiina Avela et al.   European Journal of Medical Genetics

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

New Finnish reference for head circumference from birth to 7 years

(2011) Marjo Karvonen et al.   ANNALS OF MEDICINE

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

New Finnish growth references for children and adolescents aged 0 to 20 years: Length/height-for-age, weight-for-length/height, and body mass index-for-age

(2010) Antti Saari et al.   ANNALS OF MEDICINE

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics