Faculty

Institution

Unit

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Nienke Dosa, MD, MPH

Upstate Medical University

NoneNienke Dosa, Md, Mph is currently serving as a Center For Development, Behavior And Genetics faculty at Upstate Medical University.

Honors

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Experiences

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Education

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Nienke Dosa, MD, MPH

Upstate Medical University

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pediatrics medical genetics spina bifida rehabilitation public health child neurology neurology child development health care disability neurogenetics neurodevelopmental disorders rehabilitation medicine paediatric medicine adolescent health social science research child psychology child health adolescent medicine clinical guidance pediatric emergency medicine child mental health neurological disorders clinical neurology social participation chronic diseases mortality social impact abnormal child psychology preventive medicine youth services spinal cord medicine spinal cord pharmacotherapy attention disorders internal medicine physical medicine nurse education nurse practitioners medical internet research preventive pediatrics social skill training neurodiversity brain lesion neonatology community health social transitions adolescence pediatric spine spinal disorders spinal trauma skeletal trauma spinal fracture medical guideline pharmacokinetics clinical pharmacology early diagnosis primary health care general internal medicine life course self-management developmental anomalies chronic health conditions severe acute illness excess risk older youth nationally representative sample transition outcomes young adults nationally represented sample scientific methodology cerebral palsy oral baclofen population pharmacokinetics ambulatory pediatric setting guideline adherence

Notable Scholarly Works

Notable Federal Grants

Collaborators

P359: Expanding the Phenotypic Range of Variants in the Ppp1R3F Gene. Genetics in Medicine Open (2026)

genomicsgenome biologyallelic variantdisease gene identificationmolecular geneticsmolecular cell biologymolecular diagnosticsgene functionmolecular biologyheredityvariant interpretationhuman geneticsppp1r3f genegene expressionphenotypic rangegenetics

P424: A 15-Year-Old Female With Compound Heterozygosity for Novel Likely Pathogenic Variants in the Smg9 Gene: Expansion of the Genotype/Phenotype.. Genetics in Medicine Open (2026)

pathologygenetic disorderscompound heterozygositypathogenesisgenome biologyallelic variantdisease gene identificationmolecular geneticsmolecular diagnostics15-year-old femalesmg9 genegenetic epidemiologymedical geneticsgenetics

Deep Brain Stimulation (Dbs) in Pediatric Dystonia: The Youngest Case of Neuromodulation for Refractory Acquired Dystonia and Status Dystonicus With 1-Year Follow-Up (P10-5.008). Neurology (2025)

neurologypediatricsneurostimulationneurological disordersclinical neurologyneurodevelopmental disordersneuromuscular medicineneurosciencemovement disordersneuropathologymotor disorderspediatric dystoniarefractory acquired dystoniachild neurologybrain stimulationdeep brain stimulationneuroimagingcentral nervous system

P433: Inherited Shank1 Pathogenic Variant in 3-Year-Old Male With Neurodevelopmental Delay, Behavioral Challenges, Laryngomalacia and Overgrowth: A Case Report. Genetics in Medicine Open (2025)

Carson HoblerJennifer BlackNienke DosaRobert Roger Lebel

genetic disordersneurogeneticsneurodevelopmental delayneurodevelopmental disordersmedicinebehavioral challengesmedical geneticsgenetics

P459: A 6-Year-Old Male Presenting With X-Linked Intellectual Development Disorder Due to a Unique Pathogenic Truncating Variant in Il1rapl1. Genetics in Medicine Open (2025)

Jackson BrightJennifer BlackRobert Roger LebelNienke Dosa

medical geneticsgenetic disordersmedicinegenetics

Assessing Parental Stress and Self-Efficacy: A Multisite Feasibility Study of Parent-Mediated Physical Activity Interventions for Children With Developmental Disabilities. Health Promotion Perspectives (2024)

multisite feasibility studyhealth promotionparental stressbehavioral supportsearly childhood developmentapplied developmental psychologyphysical educationchild developmentpositive behavior interventionsphysical activitydevelopmental psychologyfamily involvementdevelopmental disabilitieschild psychologyfamily medicinerehabilitation

Cask Pathogenic Variant Which Expands the Clinical Spectrum for Micpch Syndrome in an Adult Patient.. (2024)

pathologygenetic disorderspathogenesismolecular diagnosticsmedicine

P442: An Atypical Presentation of 17Q12 Recurrent Deletion Syndrome Resulting in the Misdiagnosis of Meckel-Gruber Syndrome: A Case Report. Genetics in Medicine Open (2024)

Kathleen RennaJennifer BlackNienke DosaRobert Lebel

genetic disordersmeckel-gruber syndromediagnosismedical geneticsrecurrent deletion syndromegenetics

P741: Brothers Concordant for Adverse Phenotype and Primrose Syndrome Apparently by Parental Gonadal Mosaicism for Zbtb20 Variant. Genetics in Medicine Open (2024)

Tatiana HellwigJennifer BlackNienke DosaPrateek WaliDavid HansenArayamparambil AnilkumarRobert Lebel

genetic disordersprimrose syndromeadverse phenotypeparental gonadal mosaicismmedical geneticsgenetics

Cask Pathogenic Variant Which Expands the Clinical Spectrum for Micpch Syndrome in an Adult Patient. American Journal of Medical Genetics Part A (2024)

Jack TellerdayJennifer BlackDonald C. SchuesslerNienke P. DosaWendy AlcarazRobert Roger Lebel

genetic disordersadult patienthuman geneticsmedical geneticsclinical spectrumgenetics

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Nienke Dosa, MD, MPH

Upstate Medical University

NoneNienke Dosa, Md, Mph is currently serving as a Center For Development, Behavior And Genetics faculty 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

Nienke Dosa, MD, MPH

Upstate Medical University

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

P359: Expanding the Phenotypic Range of Variants in the Ppp1R3F Gene. Genetics in Medicine Open (2026)

P424: A 15-Year-Old Female With Compound Heterozygosity for Novel Likely Pathogenic Variants in the Smg9 Gene: Expansion of the Genotype/Phenotype.. Genetics in Medicine Open (2026)

Deep Brain Stimulation (Dbs) in Pediatric Dystonia: The Youngest Case of Neuromodulation for Refractory Acquired Dystonia and Status Dystonicus With 1-Year Follow-Up (P10-5.008). Neurology (2025)

P433: Inherited Shank1 Pathogenic Variant in 3-Year-Old Male With Neurodevelopmental Delay, Behavioral Challenges, Laryngomalacia and Overgrowth: A Case Report. Genetics in Medicine Open (2025)

Carson HoblerJennifer BlackNienke DosaRobert Roger Lebel

genetic disordersneurogeneticsneurodevelopmental delayneurodevelopmental disordersmedicinebehavioral challengesmedical geneticsgenetics

P459: A 6-Year-Old Male Presenting With X-Linked Intellectual Development Disorder Due to a Unique Pathogenic Truncating Variant in Il1rapl1. Genetics in Medicine Open (2025)

Jackson BrightJennifer BlackRobert Roger LebelNienke Dosa

medical geneticsgenetic disordersmedicinegenetics

Cask Pathogenic Variant Which Expands the Clinical Spectrum for Micpch Syndrome in an Adult Patient.. (2024)

pathologygenetic disorderspathogenesismolecular diagnosticsmedicine

P442: An Atypical Presentation of 17Q12 Recurrent Deletion Syndrome Resulting in the Misdiagnosis of Meckel-Gruber Syndrome: A Case Report. Genetics in Medicine Open (2024)

Kathleen RennaJennifer BlackNienke DosaRobert Lebel

genetic disordersmeckel-gruber syndromediagnosismedical geneticsrecurrent deletion syndromegenetics

P741: Brothers Concordant for Adverse Phenotype and Primrose Syndrome Apparently by Parental Gonadal Mosaicism for Zbtb20 Variant. Genetics in Medicine Open (2024)

Tatiana HellwigJennifer BlackNienke DosaPrateek WaliDavid HansenArayamparambil AnilkumarRobert Lebel

genetic disordersprimrose syndromeadverse phenotypeparental gonadal mosaicismmedical geneticsgenetics

Cask Pathogenic Variant Which Expands the Clinical Spectrum for Micpch Syndrome in an Adult Patient. American Journal of Medical Genetics Part A (2024)

Jack TellerdayJennifer BlackDonald C. SchuesslerNienke P. DosaWendy AlcarazRobert Roger Lebel

genetic disordersadult patienthuman geneticsmedical geneticsclinical spectrumgenetics

1
2
3
4
5
10 / page