2025
Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome
Smith M, Berry-Kravis E, Thaliath A, Isenstein E, Durkin A, Foss-Feig J, Siper P, Nelson C, Baczewski L, Levin A, Powell C, Pulver S, Mosconi M, Kolevzon A, Ethridge L. Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome. Journal Of Neurodevelopmental Disorders 2025, 17: 51. PMID: 40855273, PMCID: PMC12376477, DOI: 10.1186/s11689-025-09642-4.Peer-Reviewed Original ResearchConceptsInter-trial coherenceAuditory processing abnormalitiesEvent-related spectral perturbationReactivity to sensory stimuliDeletion sizeAuditory stimuliRepetitive auditory stimuliSensory processingGenetic conditionsEvent-related potentialsComparison of event-related potentialsPhelan-McDermid syndromeBackgroundPhelan-McDermid syndromeNeonatal hypotoniaElectroencephalography studyDysmorphic featuresInhibitory modulationNeurophysiological abnormalitiesMethodsA totalEarly recognitionSHANK3 geneClinical characterizationProcessing abnormalitiesDevelopmental delayImpaired processingPrecision medicine in the pediatric and neonatal intensive care units through genomics
Duy P, Dylik B, Deniz E. Precision medicine in the pediatric and neonatal intensive care units through genomics. Current Opinion In Pediatrics 2025, 37: 211-215. PMID: 40298123, PMCID: PMC12055474, DOI: 10.1097/mop.0000000000001471.Peer-Reviewed Original ResearchConceptsNeonatal intensive care unitGenome-wide sequencing technologiesSingle nucleotide resolutionWhole-genome sequencingIntensive care unitGene therapyPrecision medicineNucleotide resolutionSequencing technologiesGenetic perturbationsGenomic medicineGenomic technologiesCare unitFDA-approved gene therapyGenetic associationGenetic diagnosisHuman disordersCritically Ill ChildrenOmics technologiesMolecular diagnosisGenetic conditionsDisease biologyClinically actionable findingsPathological workupDiagnostic adjunct
2024
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Ng O, Bilguvar K, Ay B, Ozkose G, Aydin E, Yigit A, Bulut A, Esen F, Beken S, Aktas S, Demirel A, Arcagok B, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Frontiers In Pediatrics 2024, 12: 1412880. PMID: 39026936, PMCID: PMC11254770, DOI: 10.3389/fped.2024.1412880.Peer-Reviewed Original ResearchRapid genome sequencingHospital settingReducing unnecessary interventionsImprove patient careCost-effective approach to diagnosisTurkish healthcare systemClinical managementNext-generation sequencingPatient careHealthcare systemCritically Ill InfantsInclusion criteriaPediatric ICU patientsDelivery of resultsInfant morbidityMendelian conditionsDiagnostic odysseyApproach to diagnosisGenetic conditionsPilot studyUnnecessary interventionsTen infantsGenome sequenceDiagnostic yieldCongenital abnormalitiesPlain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3
El-Beshlawy A, Tylki-Szymanska A, Belmatoug N, Mistry P. Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3. Future Rare Diseases 2024, 4: frd52. DOI: 10.2217/frd-2023-0015.Peer-Reviewed Original ResearchBeta-glucosidase enzymePlain Language SummaryGaucher diseaseSlow growthBeta-glucosidaseEnzyme replacement therapyLanguage SummaryQuality of life of peopleLife-prolonging treatmentInternational Collaborative Gaucher GroupQuality of lifeGenetic conditionsEnzymeType 3Year of treatmentImproved most symptomsLong-term symptomsCongenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations
Guarnera A, Valente P, Pasquini L, Moltoni G, Randisi F, Carducci C, Carboni A, Lucignani G, Napolitano A, Romanzo A, Longo D, Gandolfo C, Rossi-Espagnet M. Congenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations. Journal Of Ophthalmology 2024, 2024: 5993083. PMID: 38322500, PMCID: PMC10846927, DOI: 10.1155/2024/5993083.Peer-Reviewed Original ResearchOcular malformationsCongenital malformationsPictorial reviewWeeks of gestationClinico-radiological correlationOphthalmologic evaluationOphthalmological findingsMalformation severityImaging findingsMalformationsComplex syndromeQuality of lifeImaging protocolVision impairmentHeterogeneous spectrumAbnormalitiesClinical radiologistsEye formationGenetic conditionsEyesCausative eventChild growthComplete absenceImage featuresGestation
2021
Tumor Mutational Burden as a Potential Biomarker for Immunotherapy in Pancreatic Cancer: Systematic Review and Still-Open Questions
Lawlor R, Mattiolo P, Mafficini A, Hong S, Piredda M, Taormina S, Malleo G, Marchegiani G, Pea A, Salvia R, Kryklyva V, Shin J, Brosens L, Milella M, Scarpa A, Luchini C. Tumor Mutational Burden as a Potential Biomarker for Immunotherapy in Pancreatic Cancer: Systematic Review and Still-Open Questions. Cancers 2021, 13: 3119. PMID: 34206554, PMCID: PMC8269341, DOI: 10.3390/cancers13133119.Peer-Reviewed Original ResearchTumor mutational burdenPancreatic ductal adenocarcinomaHigh-TMBMutational burdenPancreatic cancerPotential response to immunotherapyAssessment of tumour mutation burdenClinical management of patientsResponse to immunotherapyManagement of patientsPotential predictive roleSystematic reviewMedullary histologyTumor cellsDuctal adenocarcinomaClinical managementImmunotherapyNext-generation sequencingTumorPredictive rolePotential biomarkersGenetic conditionsMolecular featuresCancerMismatch repairDietary lipids as regulators of reward processes: multimodal integration matters
Berland C, Small DM, Luquet S, Gangarossa G. Dietary lipids as regulators of reward processes: multimodal integration matters. Trends In Endocrinology And Metabolism 2021, 32: 693-705. PMID: 34148784, DOI: 10.1016/j.tem.2021.05.008.Peer-Reviewed Original ResearchConceptsDietary lipidsFunctional modulatorsModern food environmentLipid sensingPalatable dietObesity pandemicDopamine transmissionDA circuitsFeeding behaviorBody homeostasisDA signalingReward circuitRecent findingsDA systemEnergy-related signalsGenetic conditionsFood environmentFood overconsumptionNeural substratesLipidsRecent reportsSignalingRegulatorHomeostasisReward processes
2019
Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles
Buza N, McGregor SM, Barroilhet L, Zheng X, Hui P. Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles. Modern Pathology 2019, 32: 1180-1188. PMID: 30952972, DOI: 10.1038/s41379-019-0266-0.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, MissedAdultAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, TumorChromosomes, Human, Pair 11CyclophosphamideDactinomycinEtoposideFemaleGenetic LociGenetic Predisposition to DiseaseHumansHydatidiform MoleMaleMethotrexatePhenotypePregnancyTreatment OutcomeTyrosine 3-MonooxygenaseUniparental DisomyUterine NeoplasmsVincristineConceptsPaternal uniparental isodisomyAbnormal trophoblastic proliferationCases of gestationUneventful clinical courseAggressive clinical behaviorUniparental isodisomyTyrosine hydroxylase locusMultiagent chemotherapyClinical courseFirst trimesterClinical complicationsImmunohistochemical featuresClinical behaviorMissed abortionAbnormal gestationsTyrosine hydroxylasePatientsTrophoblastic proliferationVillous cytotrophoblastsStromal cellsPhenotypical presentationChorionic villiGenetic conditionsP57 expressionGestation
2018
Endometrial Carcinoma in a 26‐Year‐Old Patient with Bardet‐Biedl Syndrome
Grechukhina O, Gressel GM, Munday W, Wong S, Santin A, Vash-Margita A. Endometrial Carcinoma in a 26‐Year‐Old Patient with Bardet‐Biedl Syndrome. Case Reports In Obstetrics And Gynecology 2018, 2018: 1952351. PMID: 29854508, PMCID: PMC5960523, DOI: 10.1155/2018/1952351.Peer-Reviewed Original ResearchAbnormal uterine bleedingBardet-Biedl syndromeEndometrial cancerUterine bleedingRisk factorsDefinitive surgical treatmentIndependent risk factorEndometrioid endometrial adenocarcinomaRare genetic conditionOvulatory dysfunctionBilateral salpingectomyCentral obesityOlder patientsTruncal obesityYounger patientsEndometrioid adenocarcinomaSurgical treatmentEndometrial adenocarcinomaEndometrial carcinomaClinical signsCognitive impairmentPatientsCancerGenetic conditionsBleedingCommon PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection
Ma S, Cahalan S, LaMonte G, Grubaugh ND, Zeng W, Murthy SE, Paytas E, Gamini R, Lukacs V, Whitwam T, Loud M, Lohia R, Berry L, Khan SM, Janse CJ, Bandell M, Schmedt C, Wengelnik K, Su AI, Honore E, Winzeler EA, Andersen KG, Patapoutian A. Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. Cell 2018, 173: 443-455.e12. PMID: 29576450, PMCID: PMC5889333, DOI: 10.1016/j.cell.2018.02.047.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnemia, Hemolytic, CongenitalAnimalsBlack PeopleDehydrationDisease Models, AnimalErythrocytesGene DeletionGenotypeHumansHydrops FetalisIntermediate-Conductance Calcium-Activated Potassium ChannelsIon ChannelsMalariaMiceMice, Inbred C57BLMice, KnockoutPhenotypePlasmodium bergheiT-LymphocytesConceptsPlasmodium infectionRBC dehydrationRed blood cell dehydrationExperimental cerebral malariaRare genetic conditionHereditary xerocytosisCerebral malariaMouse modelMild hemolysisAfrican populationsInfectionMalaria resistanceGenetic conditionsFunction mutationsMalariaIon channelsRBCsPiezo1Most casesE756delAllelesCell dehydrationHigh frequencyPopulationXerocytosis6 Thymus
Zuckerwise L, Li L, Copel J. 6 Thymus. 2018, 25-28.e1. DOI: 10.1016/b978-0-323-44548-1.00006-1.ChaptersGrowth restrictionThymic hypoplasiaFetal inflammatory response syndromeWorse fetal prognosisInflammatory response syndromeThree-vessel trachea viewFetal growth restrictionFetal prognosisPreterm laborAnterior mediastinumResponse syndromePremature ruptureThree-vesselThymic aplasiaFetal thymusSmall thymusFetal lifeMajor vesselsLymphoepithelial structuresThymusGenetic conditionsHypoplasiaTransverse planeMediastinumPrognosis
2015
Genetic analysis of colorectal cancers in young patients.
Abbott A, Kothari N, Teer J, Srikumar T, Kim R, Reed D, Shibata D. Genetic analysis of colorectal cancers in young patients. Journal Of Clinical Oncology 2015, 33: 632-632. DOI: 10.1200/jco.2015.33.3_suppl.632.Peer-Reviewed Original ResearchColorectal cancerYounger patientsExact testUnique molecular changesYoung CRC patientsFisher's exact testTargeted exome sequencingCRC patientsOlder patientsMedian ageWorse prognosisCRC casesTreatment strategiesHereditary syndromesHereditary cancer genesPatientsMutation frequencyNormal variantsExome sequencingGenetic alterationsDifferential mutation frequenciesGenetic conditionsMolecular changesOlder cohortSomatic mutations
2013
Modeling Heterogeneous Patients With a Clinical Diagnosis of Schizophrenia With Induced Pluripotent Stem Cells
Brennand K, Landek-Salgado M, Sawa A. Modeling Heterogeneous Patients With a Clinical Diagnosis of Schizophrenia With Induced Pluripotent Stem Cells. Biological Psychiatry 2013, 75: 936-944. PMID: 24331955, PMCID: PMC4022707, DOI: 10.1016/j.biopsych.2013.10.025.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCommon clinical manifestationsSmall patient cohortPathology of schizophreniaStem cellsPluripotent stem cellsComplex genetic conditionClinical manifestationsPatient cohortClinical etiologyHuman neuronsAnimal modelsClinical heterogeneityHeterogeneous patientsClinical diagnosisSchizophreniaGenetic conditionsMental conditionPatientsGenetic variantsBiological mechanismsClinical constraintsRare genetic variantsCellsCohortEtiology
2007
Proteomics: A Novel Methodology to Complement Prenatal Diagnosis of Chromosomal Abnormalities and Inherited Human Diseases
Bahtiyar M, Copel J, Mahoney M, Buhimschi I, Buhimschi C. Proteomics: A Novel Methodology to Complement Prenatal Diagnosis of Chromosomal Abnormalities and Inherited Human Diseases. American Journal Of Perinatology 2007, 24: 167-181. PMID: 17372862, DOI: 10.1055/s-2007-972927.Peer-Reviewed Original ResearchMeSH KeywordsAneuploidyChromosome AberrationsElectrophoresis, Polyacrylamide GelFemaleGene Expression ProfilingGenetic Diseases, InbornHumansMass SpectrometryNuchal Translucency MeasurementPregnancyPregnancy Trimester, FirstPregnancy Trimester, SecondPrenatal DiagnosisProtein Processing, Post-TranslationalProteomicsRisk AssessmentSensitivity and Specificity
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