Faculty

Institution

Unit

Venue

Charles Schwartz

Michigan State University

Affiliations

College of Human Medicine

Department of Pediatrics and Human Development

NoneCharles Schwartz is currently serving as a College Of Human Medicine faculty at Michigan State University.

Honors

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Experiences

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Education

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Charles Schwartz

Michigan State University

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genetics human genetics medical genetics genomics molecular biology molecular genetics neurology genetic disorders neuroscience intellectual disability genome biology population genetics cytogenetics neurogenetics gene expression epigenetics hematology psychiatric genetics x-linked mental retardation mutagenesis protein science cancer genetics mental retardation chromosome biology snyder-robinson syndrome x-linked intellectual disability developmental genetics spermine synthase molecular basis genome instability genome analysis autism spectrum disorders missense mutation molecular diagnostics neurodevelopmental disorders epigenomics disease gene identification gene function genome sequencing mammalian biology medicinal research molecular neurobiology applied genetics genetic basis fg syndrome molecular science molecular cell biology protein genetics linkage analysis gene characterization genome-wide association studies genomic medicine neonatology allan-herndon-dudley syndrome dna methylation signature coffin-lowry syndrome clinical biochemistry biological chemistry structural molecular biology chromosomal rearrangements splicing variant biochemical genetics epigenetic changes host genetics microdeletion syndrome candidate genes protein stability physical mapping branchio-oto-renal syndrome molecular psychiatry obstetrics and gynaecology molecular neurodegeneration biochemical sciences next-generation sequencing dna sequencing obstetrics learning disabilities intellectual disabilities developmental anomalies disability psychopathology methylation profiles psychiatry developmental disabilities developmental psychopathology polyamine biosynthesis

Notable Scholarly Works

Notable Federal Grants

Collaborators

CORRIGENDUM: Ptchd1 Gene Mutation/Deletion: The Cognitive-Behavioral Phenotyping of Four Case Reports. Frontiers in Psychiatry (2024)

Federica Alice Maria MontanaroAlessandra MandarinoViola AlesiCharles SchwartzDaniela Judith Claps SepulvedaCindy SkinnerMichael FriezGabriele PiccoloAntonio NovelliGinevra ZanniMaria Lisa DenticiStefano VicariPaolo Alfieri

mental healthpsychiatrygeneticscognitive-behavioral phenotyping

Genetic Modifiers and Ascertainment Drive Variable Expressivity of Complex Disorders. medRxiv (Cold Spring Harbor Laboratory) (2024)

Matthew JensenCorrine SmolenAnastasia TyryshkinaLucilla PizzoDeepro BanerjeeMatthew OetjensHermela ShimelisCora M. TaylorVijay Kumar PounrajaHyebin SongLaura RohanEmily HuberLaila El KhattabiIngrid van de LaarRafik TadrosConnie BezzinaMarjon van SlegtenhorstJanneke KammeraadPaolo PronteraJean-Hubert CabergHarry FraserSiddhartha BankaAnke Van DijckCharles SchwartzEls VoorhoevePatrick CallierAnne-Laure Mosca-BoidronNathalie MarleMathilde LefebvreKate PopePenny SnellAmber BoysPaul J. LockhartMyla AshfaqElizabeth McCreadyMargaret NowacyzkLucia CastigliaOrnella GalesiEmanuela AvolaTeresa MattinaMarco FicheraMaria Grazia BruccheriGiuseppa Maria Luana MandaràFrancesca MariFlavia PriviteraIlaria LongoAurora CurróAlessandra RenieriBoris KerenPerrine CharlesSilvestre CuinatMathilde NizonOlivier PichonClaire BénéteauRadka StoevaDominique Martin-CoignardSophia BlessonCedric Le CaignecSandra MercierMarie VincentChrista MartinKatrin MannikAlexandre ReymondLaurence FaivreErik SistermansR. Frank KooyDavid J. AmorCorrado RomanoJoris AndrieuxSanthosh Girirajan

medicinegeneticscomplex disordersgenetic modifiersgenetic epidemiologygenetic disorders

Srpk3 is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability. Annals of Neurology (2024)

Arkaprava RoychaudhuryYu‐Ri LeeTae‐Ik ChoiMervyn G. ThomasTahir N. KhanHammad YousafCindy SkinnerGail MaconachieMoira CrosierHolli HorakCris S. ConstantinescuTae‐Yoon KimKang‐Han LeeJae‐Jun KyungTao WangBonsu KuBernard N. ChodirkerMichael F. HammerIrene GottlobWilliam H. J. NortonRobert GerlaiHyung‐Goo KimClaudio GrazianoTommaso PippucciEmanuela IovinoFrancesca MontanariGiulia SeveriCamilo ToroCornelius F. BoerkoelHyo Sun ChaCheol Yong ChoiSungjin KimJe‐Hyun YoonKelly GilmoreNeeta L. VoraErica E. DavisAlbert E. ChudleyCharles E. SchwartzCheol‐Hee Kim

cognitive neuroscienceneurologyx-linked intellectual disabilityintellectual disabilityintellectual impairmentscognitive developmentocular developmentdevelopmental neurobiologycognitive impairmentneurodevelopmental disorderscognitive scienceneuroscienceneuroanatomydevelopmental cognitive neuroscience

Assortative Mating and Parental Genetic Relatedness Contribute to the Pathogenicity of Variably Expressive Variants. The American Journal of Human Genetics (2023)

Corrine SmolenMatthew JensenLisa DyerLucilla PizzoAnastasia TyryshkinaDeepro BanerjeeLaura RohanEmily HuberLaila El KhattabiPaolo PronteraJean-Hubert CabergAnke Van DijckCharles SchwartzLaurence FaivrePatrick CallierAnne-Laure Mosca-BoidronMathilde LefebvreKate PopePenny SnellPaul J. LockhartLucia CastigliaOrnella GalesiEmanuela AvolaTeresa MattinaMarco FicheraGiuseppa Maria Luana MandaràMaria Grazia BruccheriOlivier PichonCedric Le CaignecRadka StoevaSilvestre CuinatSandra MercierClaire BénéteauSophie BlessonAshley NordslettenDominique Martin-CoignardErik SistermansR. Frank KooyDavid J. AmorCorrado RomanoBertrand IsidorJane JuusolaSanthosh Girirajan

phylogeneticspathogenesisgeneticsevolutionary biologygenetic variationevolutionary geneticsexpressive variantsanthropologyassortative matingpath dependencemedical geneticshuman geneticspopulation genetics

Clinical Findings in Individuals With Duplication of Genes Associated With X‐Linked Intellectual Disability. Clinical Genetics (2023)

Nikhil SahajpalCatherine ZiatsAlka ChaubeyBarbara R. DuPontFatima AbidiCharles E. SchwartzRoger E. Stevenson

x-linked intellectual disabilityintellectual disabilitygeneticsmedical geneticshuman genetics

CORRECTION: Clinical Findings and a Dna Methylation Signature in Kindreds With Alterations in Znf711. European Journal of Human Genetics (2023)

Jiyong WangAidin ForoutanEllen RichardsonSteven A. SkinnerJack ReillyJennifer KerkhofCynthia J. CurryPatrick S. TarpeyStephen P. RobertsonIsabelle MaystadtBoris KerenJoanne W. DixonCindy SkinnerRachel StapletonLyse RuaudEvren GumusPhillis LakemanMariëlle AldersMatthew L. TedderCharles E. SchwartzMichael J. FriezBekim SadikovicRoger E. Stevenson

genomicsgeneticsdna methylation signaturemedical geneticshuman geneticspopulation genetics

Defining the 3′Epigenetic Boundary of the Fmr1 Promoter and Its Loss in Individuals With Fragile X Syndrome. International Journal of Molecular Sciences (2023)

David E. GodlerYoshimi InabaMinh Q. BuiDavid FrancisCindy SkinnerCharles E. SchwartzDavid J. Amor

geneticsmolecular geneticsmolecular biologyepigeneticsmedical geneticshuman genetics

Eye Movement Defects in Ko Zebrafish Reveals Srpk3 as a Causative Gene for an X-Linked Intellectual Disability. Research Square (2023)

Cheol-Hee KimYu-Ri LeeMervyn ThomasArkaprava RoychaudhuryCindy SkinnerGail MaconachieMoira CrosierHolli HorakCris ConstantinescuTae-Ik ChoiJae-Jun KyungTao WangBonsu KuBernard ChodirkerMichael HammerIrene GottlobWilliam NortonAlbert ChudleyCharles Schwartz

gene expressionophthalmologyx-linked intellectual disabilityfish biologyintellectual disabilitygenetic basisgeneticsgene functionmolecular geneticsmolecular biologycausative geneeye movement defectshuman geneticsgenetic disorders

Identification of a Dna Methylation Signature for Renpenning Syndrome (Rens1), a Spliceopathy. European Journal of Human Genetics (2023)

Sadegheh HaghshenasAidin ForoutanPratibha BhaiMichael A. LevyRaissa RelatorJennifer KerkhofHaley McConkeyCindy D. SkinnerRaymond C. CaylorMatthew L. TedderRoger E. StevensonBekim SadikovicCharles E. Schwartz

genomicsgenome biologydermatologygenetic disordersgeneticsdevelopmental geneticsdna methylation signatureepigeneticsmedical geneticshuman geneticshealth sciences

Prdm1 Dna-Binding Zinc Finger Domain is Required for Normal Limb Development and is Disrupted in Split Hand/Foot Malformation. Disease Models & Mechanisms (2023)

Brittany T. TruongLomeli C. ShullEzra LencerEric G. BendMichael FieldElizabeth E. BlueMichael J. BamshadCindy SkinnerDavid EvermanCharles E. SchwartzHeather Flanagan-SteetKristin B. Artinger

disease mechanismsgeneticsdevelopmental neurobiologymolecular biologydevelopmental biologyabnormal developmentnormal limb development

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Charles Schwartz

Michigan State University

Affiliations

College of Human Medicine

Department of Pediatrics and Human Development

NoneCharles Schwartz is currently serving as a College Of Human Medicine faculty at Michigan State University.

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Charles Schwartz

Michigan State University

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

CORRIGENDUM: Ptchd1 Gene Mutation/Deletion: The Cognitive-Behavioral Phenotyping of Four Case Reports. Frontiers in Psychiatry (2024)

mental healthpsychiatrygeneticscognitive-behavioral phenotyping

Genetic Modifiers and Ascertainment Drive Variable Expressivity of Complex Disorders. medRxiv (Cold Spring Harbor Laboratory) (2024)

medicinegeneticscomplex disordersgenetic modifiersgenetic epidemiologygenetic disorders

Srpk3 is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability. Annals of Neurology (2024)

Assortative Mating and Parental Genetic Relatedness Contribute to the Pathogenicity of Variably Expressive Variants. The American Journal of Human Genetics (2023)

Clinical Findings in Individuals With Duplication of Genes Associated With X‐Linked Intellectual Disability. Clinical Genetics (2023)

Nikhil SahajpalCatherine ZiatsAlka ChaubeyBarbara R. DuPontFatima AbidiCharles E. SchwartzRoger E. Stevenson

x-linked intellectual disabilityintellectual disabilitygeneticsmedical geneticshuman genetics

CORRECTION: Clinical Findings and a Dna Methylation Signature in Kindreds With Alterations in Znf711. European Journal of Human Genetics (2023)

genomicsgeneticsdna methylation signaturemedical geneticshuman geneticspopulation genetics

Defining the 3′Epigenetic Boundary of the Fmr1 Promoter and Its Loss in Individuals With Fragile X Syndrome. International Journal of Molecular Sciences (2023)

David E. GodlerYoshimi InabaMinh Q. BuiDavid FrancisCindy SkinnerCharles E. SchwartzDavid J. Amor

geneticsmolecular geneticsmolecular biologyepigeneticsmedical geneticshuman genetics

Eye Movement Defects in Ko Zebrafish Reveals Srpk3 as a Causative Gene for an X-Linked Intellectual Disability. Research Square (2023)

Identification of a Dna Methylation Signature for Renpenning Syndrome (Rens1), a Spliceopathy. European Journal of Human Genetics (2023)

genomicsgenome biologydermatologygenetic disordersgeneticsdevelopmental geneticsdna methylation signatureepigeneticsmedical geneticshuman geneticshealth sciences

Prdm1 Dna-Binding Zinc Finger Domain is Required for Normal Limb Development and is Disrupted in Split Hand/Foot Malformation. Disease Models & Mechanisms (2023)

Brittany T. TruongLomeli C. ShullEzra LencerEric G. BendMichael FieldElizabeth E. BlueMichael J. BamshadCindy SkinnerDavid EvermanCharles E. SchwartzHeather Flanagan-SteetKristin B. Artinger

disease mechanismsgeneticsdevelopmental neurobiologymolecular biologydevelopmental biologyabnormal developmentnormal limb development

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2
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