References
- 1SzepetowskiPRochetteJBerquinPPiussanCLathropGMMonacoAPFamilial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16Am J Hum Genet19976188989810.1086/5148779382100
- 2ChenWJLinYXiongZQet alExome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaNat Genet2011431252125510.1038/ng.100822101681
- 3HeronSEDibbensLMRole of PRRT2 in common paroxysmal neurological disorders: A gene with remarkable pleiotropyJ Med Genet20135013313910.1136/jmedgenet-2012-10140623343561
- 4LiptonJRivkinMJ16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a childNeurology20097347948010.1212/WNL.0b013e3181b1639319667324
- 5DaleRCGrattan-SmithPFungVSPetersGBInfantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletionNeurology2011771401140210.1212/WNL.0b013e31823152d721940615
- 6DaleRCGrattan-SmithPNicholsonMPetersGBMicrodeletions detected using chromosome microarray in children with suspected genetic movement disorders: A single-centre studyDev Med Child Neurol20125461862310.1111/j.1469-8749.2012.04287.x22515636
- 7WeberAKohlerAHahnANeubauerBMullerUBenign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndromeNeurogenetics20131425125310.1007/s10048-013-0376-724100940
- 8WeissLAShenYKornJMet alAssociation between microdeletion and microduplication at 16p11.2 and autismN Engl J Med200835866767510.1056/NEJMoa07597418184952
- 9FernandezBARobertsWChungBet alPhenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorderJ Med Genet20104719520310.1136/jmg.2009.06936919755429
- 10ShinawiMLiuPKangSHet alRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeJ Med Genet20104733234110.1136/jmg.2009.07301519914906
- 11BijlsmaEKGijsbersACSchuurs-HoeijmakersJHet alExtending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individualsEur J Med Genet200952778710.1016/j.ejmg.2009.03.00619306953
- 12GlessnerJTWangKCaiGet alAutism genome-wide copy number variation reveals ubiquitin and neuronal genesNature200945956957310.1038/nature0795319404257
- 13HansonENasirRHFongAet alCognitive and behavioral characterization of 16p11.2 deletion syndromeJ Dev Behav Pediatr20103164965710.1097/DBP.0b013e3181ea50ed20613623
- 14CooperGMCoeBPGirirajanSet alA copy number variation morbidity map of developmental delayNat Genet20114383884610.1038/ng.90921841781
- 15HansonEBernierRPorcheKet alThe cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained populationBiol Psychiatry2014
- 16ZuffereyFSherrEHBeckmannNDet alA 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersJ Med Genet20124966066810.1136/jmedgenet-2012-10120323054248
- 17LeeYCLeeMJYuHYet alPRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohortPLoS One20127e3854310.1371/journal.pone.003854322870186
- 18MeneretAGrabliDDepienneCet alPRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European populationNeurology20127917017410.1212/WNL.0b013e31825f06c322744660
- 19GroffenAJKlapwijkTvan RootselaarAFGroenJLTijssenMAGenetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesiaJ Neurol2013260939910.1007/s00415-012-6592-522752065
- 20ChenYPSongWYangJet alPRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from southwest ChinaEur J Neurol20142117417610.1111/ene.1212223496026
- 21ErroRSheerinUMBhatiaKPParoxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classificationMov Disord2014291108111624963779
- 22WangJLCaoLLiXHet alIdentification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesiasBrain20111343493350110.1093/brain/awr28922120146
- 23HeronSEGrintonBEKivitySet alPRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeAm J Hum Genet20129015216010.1016/j.ajhg.2011.12.00322243967
- 24RosenfeldJACoppingerJBejjaniBAet alSpeech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplicationsJ Neurodev Disord20102263810.1007/s11689-009-9037-421731881
- 25McCarthySEMakarovVKirovGet alMicroduplications of 16p11.2 are associated with schizophreniaNat Genet2009411223122710.1038/ng.47419855392
- 26MarshallCRNoorAVincentJBet alStructural variation of chromosomes in autism spectrum disorderAm J Hum Genet20088247748810.1016/j.ajhg.2007.12.00918252227
- 27Bachmann-GagescuRMeffordHCCowanCet alRecurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityGenet Med20101264164710.1097/GIM.0b013e3181ef428620808231
- 28GuhaSReesEDarvasiAet alImplication of a rare deletion at distal 16p11.2 in schizophreniaJAMA Psychiatry20137025326010.1001/2013.jamapsychiatry.7123325106
- 29WaltersRGJacquemontSValsesiaAet alA new highly penetrant form of obesity due to deletions on chromosome 16p11.2Nature201046367167510.1038/nature0872720130649
- 30SparrowDBMcInerney-LeoAGucevZSet alAutosomal dominant spondylocostal dysostosis is caused by mutation in TBX6Hum Mol Genet2013221625163110.1093/hmg/ddt01223335591
- 31BoydenEDCampos-XavierABKalamajskiSet alRecurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityAm J Hum Genet20118976777210.1016/j.ajhg.2011.10.01622152678
- 32MinBJKimNChungTet alWhole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeAm J Hum Genet20118976076610.1016/j.ajhg.2011.10.01522152677
- 33KreuderJBorkhardtAReppRet alBrief report: Inherited metabolic myopathy and hemolysis due to a mutation in aldolase AN Engl J Med1996334110011048598869
- 34MacDonaldJRZimanRYuenRKFeukLSchererSWThe Database of Genomic Variants: A curated collection of structural variation in the human genomeNucleic Acids Res201442D98699210.1093/nar/gkt95824174537
- 35ShafferLGAmerican College of Medical Genetics Professional P, Guidelines CAmerican College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardationGenet Med2005765065410.1097/01.gim.0000186545.83160.1e16301868