Faculty

Institution

Unit

Venue

Joan Pellegrino, MD

Associate Professor of Pediatrics

Upstate Medical University

Joan Pellegrino, Md is currently serving as a Center For Development, Behavior And Genetics Associate Professor of Pediatrics at Upstate Medical University.

Honors

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Experiences

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Education

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Joan Pellegrino, MD

Upstate Medical University

Associate Professor of Pediatrics

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genetics medical genetics human genetics pediatrics genetic disorders krabbe disease public health neurology genomics molecular genetics child neurology hematology genetic epidemiology diagnosis neonatology cytogenetics neurogenetics genome biology forensic genetics hereditary neuralgic amyotrophy endocrinology respiratory medicine molecular diagnostics clinical proteomics molecular psychiatry movement disorders heredity evaluation protocol applied genetics molecular characterization genomic medicine disease surveillance disease detection disease diagnosis mental health monitoring developmental genetics early diagnosis medical diagnostics cancer screening genetic basis disease gene identification mendelian disorder treatment guidelines diagnostic protocol x-linked adrenoleukodystrophy surveillance protocol clinical nosologic clinical outcomes joubert syndrome molecular analysis genetic homogeneity mcad deficiency genotype-phenotype correlations ablepharon macrostomia syndrome osteopathia striata x-linked disorder personalized medicine medicine maternal health biostatistics world psychiatry neurodevelopmental disorders pediatric obesity pregnancy hypertension chronic diseases medical sociology pediatric diabetes clinical nutrition human biology internal medicine population health pediatric urology jama psychiatry international health clinical biochemistry medical history epidemiology translational medicine preventive healthcare child nutrition abnormal child psychology clinical epidemiology individualized medicine global health intellectual disability obstetrics and gynaecology pediatric pulmonology behavioural genetics pediatric nursing statistical genetics bioethics infectious diseases (medical specialty) translational research health sciences clinical laboratory pathology

Notable Scholarly Works

Notable Federal Grants

Collaborators

A Diagnosis of Birt–Hogg–Dubé Syndrome in Individuals With Smith–Magenis Syndrome: Recommendation for Cancer Screening. American Journal of Medical Genetics Part A (2022)

Cathy D. VockeLeah R. FlemingAnna M. PiskorskiAli AminChanika PhornphutkulSuzanne de la MonteThierry VilbouxFolami DuncanJoan PellegrinoBonnie BraddockLindsay A. MiddeltonLaura S. SchmidtMaria J. MerinoEdward W. CowenWendy J. IntroneW. Marston LinehanAnn C. M. Smith

dermatologygenetic disordersdiagnosisgeneticsoncologycancer screeningmedical geneticshuman geneticshealth sciencesmedical diagnostics

Expanding the Myopathic Spectrum of Dominant Ryr1 Mutations: Two Case Reports. Molecular Genetics and Metabolism (2021)

muscular dystrophiesgeneticsdisease gene identificationmendelian disordermutagenesis (molecular biology technique)molecular biologydominant ryr1 mutationsmedical geneticsmyopathic spectrumpathologyhuman geneticsgenetic disorderscase reports

Low Psychosine in Krabbe Disease With Onset in Late Infancy: A Case Report. International Journal of Neonatal Screening (2021)

krabbe diseasepsychopathologyneuropathologypsychiatrylow psychosinecase reportchild neurologypediatrics

The Critical Role of Psychosine in Screening, Diagnosis, and Monitoring of Krabbe Disease. Genetics in Medicine (2020)

Adam J. GuenzelColeman T. TurgeonKim K. NickanderAmy L. WhiteDawn S. PeckGisele B. PinoApril L. StudinskiVinod K. PrasadJoanne KurtzbergMaria L. EscolarMaria Laura Duque LasioJoan E. PellegrinoAi SakonjuRachel E. HickeyNatalie M. ShallowMargie A. ReamJoseph J. OrsiniMichael H. GelbKimiyo RaymondDimitar K. GavrilovDevin OglesbeePiero RinaldoSilvia TortorelliDietrich Matern

public healthgenomicsmedicinedisease surveillancekrabbe diseasediagnosisgeneticsdisease detectiondisease diagnosismental health monitoringmedical geneticsgenetic epidemiology

PSYCHOSINE: A Useful Biomarker for Newborn Screening, Follow Up and Monitoring of Krabbe Disease. Molecular Genetics and Metabolism (2018)

Coleman TurgeonAmy WhiteDawn PeckGessi Bentz PinoApril StudinksiJoseph J. OrsiniMichael GelbM. Christine DorleyJoan PellegrinoAi SakonjuVinod PrasadJoanne KurtzbergDevin OglesbeeDimitar GavrilovSilvia TortorelliPiero RinaldoKimiyo RaymondDietrich Matern

public healthmolecular geneticsbiomarkerskrabbe disease

Clinical Outcomes of Children With Abnormal Newborn Screening Results for Krabbe Disease in New York State. Genetics in Medicine (2016)

Melissa P. WassersteinMary AndriolaGeorgianne ArnoldAlan AronPatricia DuffnerRichard W. ErbeMaria L. EscolarLissette EstrellaPatricia Galvin-PartonAlejandro IglesiasDenise M. KayDavid F. KronnJoanne KurtzbergJennifer M. KwonThomas J. LanganPaul A. LevyThomas P. NaidichJoseph J. OrsiniJoan E. PellegrinoJames M. ProvenzaleDavid A. WengerMichele Caggana

public healthkrabbe diseasehematologyclinical outcomesgeneticsrespiratory medicineclinical epidemiologyneonatologymedical geneticspediatricsgenetic epidemiology

Newborn Screening for Krabbe Disease in New York State: The First Eight Years’ Experience. Genetics in Medicine (2016)

Joseph J. OrsiniDenise M. KayCarlos A. Saavedra-MatizDavid A. WengerPatricia K. DuffnerRichard W. ErbeChad BiskiMonica MartinLea M. KreinMatthew NicholsJoanne KurtzbergMaria L. EscolarDarius J. AdamsGeorgianne L. ArnoldAlejandro IglesiasPatricia Galvin-PartonDavid F. KronnJennifer M. KwonPaul A. LevyJoan E. PellegrinoNatasha ShurMelissa P. WassersteinMichele Caggana

public healthkrabbe diseasegeneticsmedical geneticsgenetic epidemiologyhealth sciences

Newborn Screening for X-Linked Adrenoleukodystrophy in New York State: Diagnostic Protocol, Surveillance Protocol and Treatment Guidelines. Molecular Genetics and Metabolism (2015)

B.H. VogelS.E. BradleyD.J. AdamsK. D'AcoR.W. ErbeC. FongA. IglesiasD. KronnP. LevyM. MorrisseyJ. OrsiniP. PartonJ. PellegrinoC.A. Saavedra-MatizN. ShurM. WassersteinG.V. RaymondM. Caggana

physiologysurveillance protocolx-linked adrenoleukodystrophyendocrinologygeneticsmolecular geneticsdiagnostic protocolevaluation protocolneonatologypediatricstreatment guidelines

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child With Cobalamin Deficiency Suggests Digenic Inheritance of the Mtr and Lmbrd1 Genes. JIMD Reports (2014)

Kelly D. Farwell GonzalezXiang LiHsiao-Mei LuHong LuJoan E. PellegrinoRyan T. MillerWenqi ZengElizabeth C. Chao

genomicsgenome biologydigenic inheritancedeceased childgeneticsdiagnostic exome sequencingcobalamin deficiencymolecular biologymedical geneticspediatricshuman geneticsbioinformatics

Myoclonus‐Dystonia Syndrome Associated With Russell Silver Syndrome. Movement Disorders (2013)

Erika F. AugustineJoanna BlackburnJoan E. PellegrinoRyan MillerJonathan W. Mink

russell silver syndromemovement disordersmyoclonus-dystonia syndrome

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Joan Pellegrino, MD

Associate Professor of Pediatrics

Upstate Medical University

Joan Pellegrino, Md is currently serving as a Center For Development, Behavior And Genetics Associate Professor of Pediatrics at Upstate Medical 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

Joan Pellegrino, MD

Upstate Medical University

Associate Professor of Pediatrics

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

A Diagnosis of Birt–Hogg–Dubé Syndrome in Individuals With Smith–Magenis Syndrome: Recommendation for Cancer Screening. American Journal of Medical Genetics Part A (2022)

dermatologygenetic disordersdiagnosisgeneticsoncologycancer screeningmedical geneticshuman geneticshealth sciencesmedical diagnostics

Expanding the Myopathic Spectrum of Dominant Ryr1 Mutations: Two Case Reports. Molecular Genetics and Metabolism (2021)

Low Psychosine in Krabbe Disease With Onset in Late Infancy: A Case Report. International Journal of Neonatal Screening (2021)

krabbe diseasepsychopathologyneuropathologypsychiatrylow psychosinecase reportchild neurologypediatrics

The Critical Role of Psychosine in Screening, Diagnosis, and Monitoring of Krabbe Disease. Genetics in Medicine (2020)

public healthgenomicsmedicinedisease surveillancekrabbe diseasediagnosisgeneticsdisease detectiondisease diagnosismental health monitoringmedical geneticsgenetic epidemiology

PSYCHOSINE: A Useful Biomarker for Newborn Screening, Follow Up and Monitoring of Krabbe Disease. Molecular Genetics and Metabolism (2018)

public healthmolecular geneticsbiomarkerskrabbe disease

Clinical Outcomes of Children With Abnormal Newborn Screening Results for Krabbe Disease in New York State. Genetics in Medicine (2016)

public healthkrabbe diseasehematologyclinical outcomesgeneticsrespiratory medicineclinical epidemiologyneonatologymedical geneticspediatricsgenetic epidemiology

Newborn Screening for Krabbe Disease in New York State: The First Eight Years’ Experience. Genetics in Medicine (2016)

public healthkrabbe diseasegeneticsmedical geneticsgenetic epidemiologyhealth sciences

Newborn Screening for X-Linked Adrenoleukodystrophy in New York State: Diagnostic Protocol, Surveillance Protocol and Treatment Guidelines. Molecular Genetics and Metabolism (2015)

B.H. VogelS.E. BradleyD.J. AdamsK. D'AcoR.W. ErbeC. FongA. IglesiasD. KronnP. LevyM. MorrisseyJ. OrsiniP. PartonJ. PellegrinoC.A. Saavedra-MatizN. ShurM. WassersteinG.V. RaymondM. Caggana

physiologysurveillance protocolx-linked adrenoleukodystrophyendocrinologygeneticsmolecular geneticsdiagnostic protocolevaluation protocolneonatologypediatricstreatment guidelines

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child With Cobalamin Deficiency Suggests Digenic Inheritance of the Mtr and Lmbrd1 Genes. JIMD Reports (2014)

Kelly D. Farwell GonzalezXiang LiHsiao-Mei LuHong LuJoan E. PellegrinoRyan T. MillerWenqi ZengElizabeth C. Chao

genomicsgenome biologydigenic inheritancedeceased childgeneticsdiagnostic exome sequencingcobalamin deficiencymolecular biologymedical geneticspediatricshuman geneticsbioinformatics

Myoclonus‐Dystonia Syndrome Associated With Russell Silver Syndrome. Movement Disorders (2013)

Erika F. AugustineJoanna BlackburnJoan E. PellegrinoRyan MillerJonathan W. Mink

russell silver syndromemovement disordersmyoclonus-dystonia syndrome

1
2
3
10 / page