2021
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.Peer-Reviewed Original ResearchConceptsBifunctional protein deficiencyEarly mortalityClinical spectrumPersistent hypoglycemiaDBP deficiencyFat-soluble vitamin deficiencyImportant prognostic informationProtein deficiencyEnzyme deficiencyYears of lifePeroxisomal enzyme deficienciesResidual enzyme functionAbsent enzyme activityRapid whole-genome sequencingUnexplained hypoglycemiaEarly managementPrognostic informationVitamin deficiencyClinical severityNeonatal hypotoniaHigh burdenPeroxisomal dysfunctionPatient's fatherPsychomotor delayLong-chain fatty acids
2018
Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome
Yilmaz S, Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome. Molecular Genetics & Genomic Medicine 2018, 6: 230-248. PMID: 29397575, PMCID: PMC5902402, DOI: 10.1002/mgg3.364.Peer-Reviewed Original ResearchConceptsCoxa vara-pericarditis (CACP) syndromeCoxa varaCommon childhood rheumatic diseaseIncreased pain levelSevere hip involvementChildhood rheumatic diseasesJuvenile idiopathic arthritisDevelopmental coxa varaRare autosomal recessive conditionYears of ageUnrelated familiesWhole-exome sequencingAutosomal recessive conditionHip involvementIdiopathic arthritisMost patientsPain levelsRadiological findingsPleural effusionJoint involvementNoninflammatory arthropathyRheumatic diseasesNovel genomic alterationsFirst symptomsCACP syndrome
2014
Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up
Tüysüz B, Yılmaz S, Kasapçopur Ö, Erener-Ercan T, Ceyhun E, Bilguvar K, Günel M. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. Rheumatology International 2014, 34: 1539-1544. PMID: 24816859, DOI: 10.1007/s00296-014-3037-8.Peer-Reviewed Original ResearchConceptsRadiological findingsClinical findingsDigital clubbingHPGD geneYears of agePrimary hypertrophic osteoarthropathyMonths of ageHomozygous deletionPainful swellingHypertrophic osteoarthropathyInfantile periodPalmoplantar hyperkeratosisHand radiographsOssification defectsHomozygous mutationIntrafamilial variabilityLate childhoodAgePatientsClubbingMonthsFindingsSiblingsExon 3Years
2012
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Šestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485: 237-241. PMID: 22495306, PMCID: PMC3667984, DOI: 10.1038/nature10945.Peer-Reviewed Original Research
2011
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. American Journal Of Human Genetics 2011, 88: 523-535. PMID: 21529752, PMCID: PMC3146716, DOI: 10.1016/j.ajhg.2011.03.019.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell Cycle ProteinsCentrosomeCerebral CortexChild, PreschoolDNA Mutational AnalysisEpithelial CellsExonsFemaleGenetic LinkageHeLa CellsHomozygoteHumansInfantMaleMiceMicrocephalyMicrotubule-Associated ProteinsMutationNeural Stem CellsNeurogenesisNeuronsPhenotypePregnancyRNA, MessengerTransfectionConceptsCortical laminationPatient-derived cell linesDistinct homozygous mutationsProfound mental retardationCerebral cortexCerebral cortex neurogenesisMouse embryonic brainNeuron productionBrain scansPostmortem dataEmbryonic brainNeural precursorsHomozygous mutationNeuroepithelial cellsNeurogenesisPatient cellsMental retardationExtreme microcephalyAffected individualsEarly neurogenesisCell linesT mutationPakistani originBrainTurkish family
2010
A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin
Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. American Journal Of Medical Genetics Part A 2010, 152A: 1039-1042. PMID: 20358624, DOI: 10.1002/ajmg.a.33312.Peer-Reviewed Original Research
2005
Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3
Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O’Roak B, Gunel M. Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3. Neurosurgery 2005, 57: 1008-1013. PMID: 16284570, DOI: 10.1227/01.neu.0000180811.56157.e1.Peer-Reviewed Original Research