Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

(2018) Jaap I. van Waning et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

(2016) Eyal Reinstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants inNONO

(2016) Daryl A Scott et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Monkol Lek et al.   NATURE

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

(2015) Dennis Mircsof et al.   NATURE NEUROSCIENCE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH