Faculty

Institution

Unit

Venue

Willa Thorson, M.D

Clinical Assistant Professor

University of Miami

Affiliations

Miller School of Medicine

Dr. John T. Macdonald Foundation Department of Human Genetics

Willa Thorson, M.d is currently serving as a Dr. John T. Macdonald Human Genetics Clinical Assistant Professor at University of Miami.

Honors

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Experiences

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Education

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Willa Thorson, M.D

University of Miami

Clinical Assistant Professor

You can click a keyword to filter the displayed items

genetics medical genetics human genetics genetic disorders genomics molecular genetics developmental genetics developmental biology urology neurology gene expression population genetics genetic variation neurogenetics genome biology medicinal research host genetics pathogens digestive diseases child nutrition early childhood child neurology developmental psychology neurodevelopmental disorders clinical lipidology mammalian biology nutritional biochemistry liver physiology vascular biology clinical laboratory clinical investigation respiratory medicine mutagenesis cancer genetics prenatal diagnosis neonatology pediatric gastroenterology gene function developmental disorders syndromic autism protein misfolding metabolic regulation splicing variant genome instability transcription regulation clinical data benchmark studies clinical evaluation clinical medicine genomic medicine omics datasets disease diagnosis multi-omics studies cytogenetics psychiatric genetics genetic testing intestinal hypoperistalsis genotype-phenotype correlations hirschsprung disease waardenburg syndrome peripheral demyelinating neuropathy prenatal renal phenotype chronic intestinal pseudo-obstruction cuban descent literature review additional individuals phenotypic spectrum severe propionic acidemia pediatric patient congenital lipomatous overgrowth epidermal nevi familial schwannomatosis heredity diagnosis metabolic syndrome prenatal testing mendelian disorder pediatrics genetic epidemiology

Notable Scholarly Works

Notable Federal Grants

Collaborators

A Novel Leucine Zipper-Like Transcriptional Regulator 1 Variant Identified in a Pair of Siblings With Familial Schwannomatosis. Surgical Neurology International (2024)

Joseph Yunga TigreDavid J. LeviVictor M. LuAndrew J. KloehnWilla ThorsonAmr AbulabanS. Shelby BurksAllan D. Levi

neurologyfamilial schwannomatosistranscription (biology)transcription regulation

CORRECTION: Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-LI-Bhoj Syndrome With 38 Additional Individuals. European Journal of Human Genetics (2024)

Dana E. Layo-CarrisEmily E. LubinAnnabel K. SangreeKelly J. ClarkEmily L. DurhamElizabeth M. GonzalezSarina SmithRajesh AngireddyXiao Min WangErin WeissAnnick ToutainRoberto Mendoza-LondonoLucie DupuisNadirah DamsehDanita VelascoIrene ValenzuelaMarta Codina-SolàCatherine ZiatsJaclyn HaveKatie ClarksonDora SteelManju KurianKaty BarwickDiana CarrascoAditi I. DagliM. J. M. NowaczykMiroslava HančárováŠárka BendováDarina PrchalovaZdeněk SedláčekAlica BaxováCatherine Bearce NowakJessica DouglasWendy K. ChungNicola LongoKonrad PlatzerChiara KlöcknerLuisa AverdunkDagmar WieczorekIlona KreyChristiane ZweierAndre ReisTugce BalciMarleen SimonHester Y. KroesAntje WiesenerGeorgia VasileiouNikolaos M. MarinakisDanai VeltraChristalena SofocleousKonstantina KosmaJoanne Traeger SynodinosKonstantinos A. VoudrisMarie-Laure VuillaumePaul GueguenNicolas DeriveEstelle ColinClarisse BattaultBillie AuMartin DelatyckiMathew WallisLyndon GallacherFatma MajdoubNoor SmalSarah WeckhuysenAn-Sofie SchoonjansR. Frank KooyMarije MeuwissenBenjamin T. CocanougherKathryn TaylorCarolyn E. PizoliMarie T. McDonaldPhilip JamesElizabeth R. RoederRebecca LittlejohnNicholas A. BorjaWilla ThorsonKristine KingRadka StoevaManon SuerinkEsther NibbelingStephanie BaskinGwenaël L. E. GuyaderJulie KaplanCandace MussDeanna Alexis CarereElizabeth J. K. BhojLaura M. Bryant

additional individualsneurosciencesyndromic autismhuman geneticsgeneticsneurogeneticsdevelopmental psychopathologyneurodegenerative diseasesdevelopmental psychologyearly childhoodphenotypic spectrumdevelopmental neurobiologymedical geneticsneurologygenetic disordersdevelopmental disordersneurodevelopmental disordersdevelopmental geneticschild neurology

Ultra-Rare Monogenic Disorders Frequently Detected Among Sex Chromosome Aneuploidy Patients With Atypical Findings. Journal of Human Genetics (2024)

Kiana MageeWilliam McGonigleRena PressmanWilla ThorsonDeborah BarbouthNicholas A. Borja

cytogeneticsgenetic disorderspsychiatryultra-rare monogenic disordersgynecologybehavioural geneticsgenetic testingsexual medicinehuman geneticsgenetic epidemiologymedical geneticsatypical findingspsychiatric epidemiologygeneticspsychiatric genetics

Characterization of the Prenatal Renal Phenotype Associated With 17Q12, Hnf1B, Microdeletions. Prenatal Diagnosis (2023)

Courtney P. VerscajFrances Velez‐BartolomeiEthan BodleKatie ChanMichael J. LyonsWilla ThorsonWen‐Hann TanNancy RodigJohn M. GrahamAngela PeronFabiola Quintero‐RiveraElaine H. ZackaiMary Ann ThomasCathy A. StevensMargaret P. AdamLynne M. BirdMarilyn C. JonesDena R. Matalon

neonatologynephrologyprenatal diagnosishematologydevelopmental biologyprenatal renal phenotypeurologygenetics

Deletion of First Noncoding Exon in Ankrd11 Leads to Kbg Syndrome. American Journal of Medical Genetics Part A (2023)

Nicholas BorjaMohammad Faraz ZafeerJeimy Alfonso RodriguezDayna Morel SwolsWilla ThorsonGuney BademciMustafa Tekin

neurogeneticsgenetic disorderspopulation geneticsprotein misfoldingimmunologygenome biologymolecular geneticshost geneticshuman geneticsgene expressionmedical geneticshealth sciencesgeneticsdevelopmental genetics

P121: Comparison of Diagnostic Outcome Amongst Different Ethnic Backgrounds in Udn Participants at the University of Miami Clinical Site. Genetics in Medicine Open (2023)

Stephanie BivonaMustafa TekinGuney BademciCarson SmithLeShon PeartBrittney JohnsonJoanna GonzalezNicholas BorjaPaulo Borjas MendozaIrman ForghaniDeborah BarbouthKumarie LatchmanWilla ThorsonShengru GuoStephan Zuchner

benchmark studiesclinical medicineclinical evaluationdiagnosismedicinal researchgenomicsclinical investigationmedical educationclinical laboratoryrespiratory medicinemedicineclinical dataclinical researchurologygenetic epidemiologymedical geneticsudn participantsgenetics

P371: Initial Evaluation of Newborn Screening for X-Linked Adrenoleukodystrophy in South Florida. Genetics in Medicine Open (2023)

Sofia ZoullasDeborah BarbouthPaulo Borjas MendozaStephanie BivonaWilla Thorson

south floridax-linked adrenoleukodystrophygenomicsinitial evaluationmedicinemedical geneticsgenetics

P642: Diagnostic Yield of Multi-Omics Approach in Undiagnosed Diseases Network Miami Clinical Site. Genetics in Medicine Open (2023)

Guney BademciStephanie BivonaLeShon PeartBrittney JohnsonJoanna GonzalezNicholas BorjaPaulo Borjas MendozaIrman ForghaniDeborah BarbouthKumarie LatchmanWilla ThorsonShengru GuoCarson SmithStephan ZuchnerMustafa Tekin

gene therapymulti-omics studiesdiagnostic yieldgenomicsgenome biologydisease diagnosisomics datasetsclinical siteclinical researchmedicinegenomic medicinehuman geneticsmedical geneticsgenetics

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review. Genes (2022)

Steven H. LangFrancesca CamponeschiEvan de JoyaPaulo Borjas-MendozaMustafa TekinWilla Thorson

genetic disorderscuban descentgenomicsdevelopmental biologymolecular geneticsliterature reviewgene functionmolecular biologyhost geneticshuman geneticspopulation geneticsmedical geneticsgeneticsdevelopmental genetics

Covid‐19 in a Child With Severe Propionic Acidemia. Pediatrics International (2021)

Michael Saad‐NaguibDeborah BarbouthWilla ThorsonStephanie HackerMustafa Tekin

covid-19pediatricscritical caresevere propionic acidemia

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Willa Thorson, M.D

Clinical Assistant Professor

University of Miami

Affiliations

Miller School of Medicine

Dr. John T. Macdonald Foundation Department of Human Genetics

Willa Thorson, M.d is currently serving as a Dr. John T. Macdonald Human Genetics Clinical Assistant Professor at University of Miami.

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Willa Thorson, M.D

University of Miami

Clinical Assistant Professor

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

A Novel Leucine Zipper-Like Transcriptional Regulator 1 Variant Identified in a Pair of Siblings With Familial Schwannomatosis. Surgical Neurology International (2024)

Joseph Yunga TigreDavid J. LeviVictor M. LuAndrew J. KloehnWilla ThorsonAmr AbulabanS. Shelby BurksAllan D. Levi

neurologyfamilial schwannomatosistranscription (biology)transcription regulation

CORRECTION: Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-LI-Bhoj Syndrome With 38 Additional Individuals. European Journal of Human Genetics (2024)

Ultra-Rare Monogenic Disorders Frequently Detected Among Sex Chromosome Aneuploidy Patients With Atypical Findings. Journal of Human Genetics (2024)

Kiana MageeWilliam McGonigleRena PressmanWilla ThorsonDeborah BarbouthNicholas A. Borja

Characterization of the Prenatal Renal Phenotype Associated With 17Q12, Hnf1B, Microdeletions. Prenatal Diagnosis (2023)

neonatologynephrologyprenatal diagnosishematologydevelopmental biologyprenatal renal phenotypeurologygenetics

Deletion of First Noncoding Exon in Ankrd11 Leads to Kbg Syndrome. American Journal of Medical Genetics Part A (2023)

Nicholas BorjaMohammad Faraz ZafeerJeimy Alfonso RodriguezDayna Morel SwolsWilla ThorsonGuney BademciMustafa Tekin

P121: Comparison of Diagnostic Outcome Amongst Different Ethnic Backgrounds in Udn Participants at the University of Miami Clinical Site. Genetics in Medicine Open (2023)

P371: Initial Evaluation of Newborn Screening for X-Linked Adrenoleukodystrophy in South Florida. Genetics in Medicine Open (2023)

Sofia ZoullasDeborah BarbouthPaulo Borjas MendozaStephanie BivonaWilla Thorson

south floridax-linked adrenoleukodystrophygenomicsinitial evaluationmedicinemedical geneticsgenetics

P642: Diagnostic Yield of Multi-Omics Approach in Undiagnosed Diseases Network Miami Clinical Site. Genetics in Medicine Open (2023)

gene therapymulti-omics studiesdiagnostic yieldgenomicsgenome biologydisease diagnosisomics datasetsclinical siteclinical researchmedicinegenomic medicinehuman geneticsmedical geneticsgenetics

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review. Genes (2022)

Steven H. LangFrancesca CamponeschiEvan de JoyaPaulo Borjas-MendozaMustafa TekinWilla Thorson

Covid‐19 in a Child With Severe Propionic Acidemia. Pediatrics International (2021)

Michael Saad‐NaguibDeborah BarbouthWilla ThorsonStephanie HackerMustafa Tekin

covid-19pediatricscritical caresevere propionic acidemia

1
2
10 / page

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