Effect of inbreeding on intellectual disability revisited by trio sequencing

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

(2018) Lot Snijders Blok et al.   HUMAN GENETICS

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

De novo variants in neurodevelopmental disorders with epilepsy

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

Expanding the genetic heterogeneity of intellectual disability

(2017) Shams Anazi et al.   HUMAN GENETICS

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

(2017) R Harripaul et al.   MOLECULAR PSYCHIATRY

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

(2017) Bashayer Al-Mubarak et al.   Scientific Reports

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

(2016) Andrea Ganna et al.   NATURE NEUROSCIENCE

TRPM6 mutation: A novel cause of “reversible” infantile epileptic encephalopathy

(2016) MinalVikram Kekatpure et al.   NEUROLOGY INDIA

BOD1 Is Required for Cognitive Function in Humans and Drosophila

(2016) Sahar Esmaeeli-Nieh et al.   PLoS Genetics

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

(2014) Hao Hu et al.   HUMAN MUTATION

Genomic HEXploring allows landscaping of novel potential splicing regulatory elements

(2014) Steffen Erkelenz et al.   NUCLEIC ACIDS RESEARCH

Estimating the Inbreeding Depression on Cognitive Behavior: A Population Based Study of Child Cohort

(2014) Mohd Fareed et al.   PLoS One

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Genetics of Early Onset Cognitive Impairment

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

The impact of consanguinity on neonatal and infant health

(2010) A.H. Bittles et al.   EARLY HUMAN DEVELOPMENT

ZUSAMMENSETZUNG VON POPULATIONEN UND KORRELATIONSERSCHEINUNGEN VOM STANDPUNKT DER VERERBUNGSLEHRE AUS BETRACHTET

(2010) STEN WAHLUND   HEREDITAS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Influence of the Wahlund Effect on the Consanguinity Hypothesis: Consequences for Recessive Disease Incidence in a Socially Structured Pakistani Population

(2008) Andrew D.J. Overall   HUMAN HEREDITY