Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

(2015) Alistair T. Pagnamenta et al.   HUMAN MOLECULAR GENETICS

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

(2015) Brianne E. Kirkpatrick et al.   HUMAN MUTATION

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

(2015) P. Y. Billie Au et al.   HUMAN MUTATION

Loss of hnRNP K Impairs Synaptic Plasticity in Hippocampal Neurons

(2014) A. Folci et al.   JOURNAL OF NEUROSCIENCE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Heterogeneous Nuclear Ribonucleoprotein K Interacts with Abi-1 at Postsynaptic Sites and Modulates Dendritic Spine Morphology

(2011) Christian Proepper et al.   PLoS One

Structure and function of KH domains

(2008) Roberto Valverde et al.   FEBS Journal