A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

(2019) Patra Yeetong et al.   BRAIN

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

(2019) Rahel T. Florian et al.   Nature Communications

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty et al.   GENETICS IN MEDICINE

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

(2018) Charuta Gavankar Furey et al.   NEURON

The Problem of Rarity: Estimation of Prevalence in Rare Disease

(2018) Stéphane Auvin et al.   VALUE IN HEALTH

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

(2018) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy

(2018) X. X. Lei et al.   EUROPEAN JOURNAL OF NEUROLOGY

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

(2017) Amy B. Wilfert et al.   Genome Medicine

Fetal de novo mutations and preterm birth

(2017) Jingjing Li et al.   PLoS Genetics

Public variant databases: liability?

(2016) Adrian Thorogood et al.   GENETICS IN MEDICINE

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

(2016) Monkol Lek et al.   NATURE

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

OGEE v2: an update of the online gene essentiality database with special focus on differentially essential genes in human cancer cell lines

(2016) Wei-Hua Chen et al.   NUCLEIC ACIDS RESEARCH

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences

(2016) Kohei Fujikura   PLoS One

The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

(2015) Jan Larsen et al.   EPILEPSIA

The incidence ofSCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

(2015) Allan Bayat et al.   EPILEPSIA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data

(2015) Steven J. Schrodi et al.   HUMAN GENETICS

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

The origins, determinants, and consequences of human mutations

(2015) J. Shendure et al.   SCIENCE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Holt Oram syndrome: a registry-based study in Europe

(2014) Ingeborg Barisic et al.   Orphanet Journal of Rare Diseases

Point mutations as a source of de novo genetic disease

(2013) Joep de Ligt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Intellectual disability without epilepsy associated with STXBP1 disruption

(2011) Fadi F Hamdan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY