2022
Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified
Karakaya C, Çil AP, Bilguvar K, Çakir T, Karalok MH, Karabacak RO, Caglayan AO. Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified. Journal Of Obstetrics And Gynaecology Research 2022, 48: 1202-1211. PMID: 35141985, PMCID: PMC9050819, DOI: 10.1111/jog.15187.Peer-Reviewed Original ResearchConceptsPolycystic ovary syndromeWhole-exome sequencingFurther functional studiesMissense variantsNew drug targetsGerm-line DNAWhole-exome sequencing dataThree-dimensional structurePolycystic ovary syndrome patientsFunctional predictionChemogenomic analysisCandidate proteinsSequencing dataBiological pathwaysDrug targetsFunctional studiesCandidate variantsSequencingPCOS familiesRotterdam criteriaOvary syndromeFBN3Syndrome patientsPathwayPCOS probands
2021
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability
Lewis SA, Bakhtiari S, Heim J, Cornejo P, Liu J, Huang A, Musmacker A, Jin SC, Bilguvar K, Padilla-Lopez SR, Kruer MC. Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability. Neurology Genetics 2021, 7: e602. PMID: 34345675, PMCID: PMC8323736, DOI: 10.1212/nxg.0000000000000602.Peer-Reviewed Original ResearchHypotonic cerebral palsyCerebral palsyIntellectual disabilityOvoid lesionsMotor dysfunctionRare causeCerebral volumeTall foreheadDental crowdingMuscle hypotoniaNeurodevelopmental disabilitiesArched palateAnimal modelsPalpebral fissuresMild brachycephalyFunction genotypeNeurodevelopmental disordersPatient variantsPalsyPatientsEpilepsyLocomotor defectsFunction mutationsCandidate variantsDisability