References
- TopperSOberCDasSExome sequencing and the genetics of intellectual disabilityClin Genet201180211712621627642
- MoeschlerJBShevellMAmerican Academy of Pediatrics Committee on GeneticsClinical genetic evaluation of the child with mental retardation or developmental delaysPediatrics200611762304231616740881
- RopersHHGenetics of early onset cognitive impairmentAnnu Rev Genomics Hum Genet20101116118720822471
- VissersLEGilissenCVeltmanJAGenetic studies in intellectual disability and related disordersNat Rev Genet201617191826503795
- VissersLEde LigtJGilissenCA de novo paradigm for mental retardationNat Genet201042121109111221076407
- ÇalışkanMChongJXUricchioLExome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Hum Mol Genet20112071285128921212097
- NajmabadiHHuHGarshasbiMDeep sequencing reveals 50 novel genes for recessive cognitive disordersNature20114787367576321937992
- PhilipsAKSirénAAvelaKX-exome sequencing in Finnish families with intellectual disability – four novel mutations and two novel syndromic phenotypesOrphanet J Rare Dis201494924721225
- Bissar-TadmouriNDonahueWLAl-GazaliLNelsonSFBayrak-ToydemirPKantarciSX chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblingsAm J Med Genet A2014164A116416924501762
- VolkAConboyEWicalBPattersonMKirmaniSWhole-exome sequencing in the clinic: lessons from six consecutive cases from the clinician’s perspectiveMol Syndromol201561233125852444
- MonroeGRFrederixGWSavelbergSMEffectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disabilityGenet Med201618994995626845106
- ChérotEKerenBDubourgCUsing medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of 2 clinical units and 216 patientsClin Genet201893356757628708303
- LiHDurbinRFast and accurate short read alignment with Burrows-Wheeler transformBioinformatics200925141754176019451168
- DePristoMABanksEPoplinRA framework for variation discovery and genotyping using next-generation DNA sequencing dataNat Genet201143549149821478889
- LandrumMJLeeJMBensonMClinVar: public archive of interpretations of clinically relevant variantsNucleic Acids Res201644D1D862D86826582918
- AutonAAbecasisGRAltshulerDMA global reference for human genetic variationNature2015526687426432245
- LekMKarczewskiKJMinikelEVExome Aggregation ConsortiumAnalysis of protein-coding genetic variation in 60,706 humansNature2016536761628529127535533
- NaslavskyMSYamamotoGLde AlmeidaTFExomic variants of an elderly cohort of Brazilians in the ABraOM databaseHum Mutat201738775176328332257
- KumarPHenikoffSNgPCPredicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmNat Protoc2009471073108119561590
- AdzhubeiIASchmidtSPeshkinLA method and server for predicting damaging missense mutationsNat Methods20107424824920354512
- SchwarzJMCooperDNSchuelkeMSeelowDMutationTaster2: mutation prediction for the deep-sequencing ageNat Methods201411436136224681721
- ShihabHAGoughJMortMCooperDNDayINGauntTRRanking non-synonymous single nucleotide polymorphisms based on disease conceptsHum Genomics201481124980617
- RichardsSAzizNBaleSACMG Laboratory Quality Assurance Committee 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 PathologyGenet Med201517540542425741868
- AppenzellerSBallingRBarisicNEuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K ConsortiumDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesAm J Hum Genet201495436037025262651
- HamdanFFMyersCTCossettePHigh rate of recurrent de novo mutations in developmental and epileptic encephalopathiesAm J Hum Genet2017101566468529100083
- YooYJungJLeeYNGABBR2 mutations determine phenotype in Rett syndrome and epileptic encephalopathyAnn Neurol201782346647828856709
- Snijders BlokLMadsenEJuusolaJMutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signalingAm J Hum Genet201597234335226235985
- HamiltonMJCaswellRCCanhamNHeterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disabilityJ Med Genet2018551283829021403
- Deciphering Developmental Disorders StudyPrevalence and architecture of de novo mutations in developmental disordersNature2017542764243343828135719