Faculty

Institution

Unit

Venue

Ria Garg

Upstate Medical University

Affiliations

Center Of Medical Genetics Research

Norton College of Medicine

Department Of Anesthesiology

Department Of Pediatrics

Department Of Golisano Pediatrics

Division Of Infectious Diseases

Department Of Pediatrics

Departments Of Pediatrics And Microbiology And Immunology

Department Of Pediatrics

Division Of Infectious Diseases

General Pediatric Division

Division Of Inpatient Pediatrics

Department Of Anesthesiology

Norton College Of Medicine

Pediatrics - Community Campus

NoneRia Garg is currently serving as a Center Of Medical Genetics Research faculty at Upstate Medical University.

Honors

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Experiences

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Education

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Ria Garg

Upstate Medical University

You can click a keyword to filter the displayed items

genetics human genetics neurogenetics genetic disorders medical genetics molecular genetics disease gene identification mendelian disorder developmental biology pathology molecular psychiatry neurodevelopmental disorders developmental anomalies neuroscience neuropathology developmental neurobiology epilepsy molecular diagnostics heredity genome biology craniofacial research psychiatric genetics cytogenetics autism spectrum disorder genetic epidemiology autism child neurology histopathology surgical pathology neuroradiology developmental cell spinal cord musculoskeletal disorders oral pathology craniofacial surgery orthodontics syndromic autism case studies variant interpretation neurological disorders experimental neuropathology cleft lip craniofacial disorders nizon-isidor syndrome maternal inheritance tnfrsf13b sequence variants novel csnk1e variant neurodevelopmental syndrome severe neurodevelopmental outcomes dysmorphic features proximal deletions t p. novel missense variant case report developmental delay feet deformity chromosome 1p31.1 chromosome 19p13.11

Notable Scholarly Works

Notable Federal Grants

Collaborators

Clinical Manifestations of Chromosome 19P13.11 Duplication. Journal of Medical Genetics (2026)

geneticspathologyhuman geneticsanatomical pathologymolecular geneticsneurogeneticshistopathologysurgical pathologygenetic disordersmendelian disorderchromosome 19p13.11molecular diagnosticscytogenetics

Orofacial Clefting in Phf6 -Related BöRjeson–Forssman–Lehmann Syndrome. BMJ Case Reports (2026)

pathologyorthodonticscraniofacial researchcraniofacial disordersanatomical pathologyoral pathologydevelopmental anomaliescleft lipanatomygross anatomycraniofacial surgeryorofacial clefting

Xp22.33 Duplication Encompassing Par1 in a Male With Syndromic Neurodevelopmental Disorder and Tall Stature. Genes (2026)

geneticshuman geneticsmolecular geneticsmolecular psychiatryneurogeneticsgenetic disordersdevelopmental anomaliesneurodevelopmental disorderstall staturedevelopmental biologydevelopmental neurobiologysyndromic neurodevelopmental disorder

Case Report: A Novel Missense Variant in Zc4H2, C.196C T P.(Leu66Phe), is Associated With a Mild, Zc4H2-Related X-Linked Syndromic Intellectual Disability (Zard) Phenotype. Frontiers in Pediatrics (2025)

geneticsneurologyhuman geneticsmolecular psychiatryneurogeneticsmendelian disordergenetic disordersmedical geneticsdisease gene identificationcase reportnovel missense variantt p.

Chromosome 1P31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity. Case Reports in Genetics (2025)

geneticshuman geneticspathologyneuropathologycraniofacial researchmolecular geneticsneurogeneticsgenetic disordersdevelopmental anomaliesdevelopmental delaychromosome 1p31.1medical geneticsdevelopmental biologyfeet deformitycytogenetics

Evidence of Maternal Inheritance of Nizon-Isidor Syndrome in an Individual With Gamt and Tnfrsf13B Sequence Variants. Journal of Human Genetics (2025)

geneticshuman geneticsmolecular geneticsmendelian disorderhereditygenetic disordersmedical geneticsdevelopmental biologygenetic epidemiologygenome biologydisease gene identificationtnfrsf13b sequence variantsmolecular diagnosticsnizon-isidor syndromematernal inheritance

Zfhx3 -Associated Neural Tube Defect. BMJ Case Reports (2025)

neurologyspinal cordneuropathologymolecular psychiatryneuroradiologyneurogeneticsneural tube defectneurosciencecentral nervous systemdevelopmental cellmolecular neuroscienceneurological disordersdevelopmental neurobiologyexperimental neuropathology

Neurodevelopmental Delay, Musculoskeletal Disorders and Dysmorphia Associated With a Novel Pathogenic Interstitial Deletion of Chromosome 10Q21.1Q21.3. Journal of Medical Genetics (2025)

Dibyendu DuttaJennifer BlackEmily A MontoyaThomas Andrew BurrowJoseph ShiehBobbi McGivernMichelle RaymondChristina B SheedyScott C. SmithRia Garg

geneticsmedical geneticsmusculoskeletal disordersneurodevelopmental delay

Proximal Deletions of 14Q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features. American Journal of Medical Genetics Part A (2025)

geneticsneurologyhuman geneticsneuropathologychild neurologysevere neurodevelopmental outcomesneurogeneticsmendelian disordergenetic disordersdevelopmental anomaliesneuroscienceproximal deletionsdysmorphic featuresneurodevelopmental disordersdisease gene identificationdevelopmental neurobiology

Rapid Genetic Testing in the Picu: Uncovering Col4A2-Related Gould Syndrome in Super-Refractory Status Epilepticus. BMJ Case Reports (2025)

geneticshuman geneticssuper-refractory status epilepticusmolecular geneticsrapid genetic testinggenomicsneurogeneticshereditygenetic disordersmendelian disordermedical geneticsdevelopmental biologydisease gene identificationgenome biologyepilepsy

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Ria Garg

Upstate Medical University

Affiliations

Center Of Medical Genetics Research

Norton College of Medicine

Department Of Anesthesiology

Department Of Pediatrics

Department Of Golisano Pediatrics

Division Of Infectious Diseases

Department Of Pediatrics

Departments Of Pediatrics And Microbiology And Immunology

Department Of Pediatrics

Division Of Infectious Diseases

General Pediatric Division

Division Of Inpatient Pediatrics

Department Of Anesthesiology

Norton College Of Medicine

Pediatrics - Community Campus

NoneRia Garg is currently serving as a Center Of Medical Genetics Research 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

Ria Garg

Upstate Medical University

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

Clinical Manifestations of Chromosome 19P13.11 Duplication. Journal of Medical Genetics (2026)

Orofacial Clefting in Phf6 -Related BöRjeson–Forssman–Lehmann Syndrome. BMJ Case Reports (2026)

pathologyorthodonticscraniofacial researchcraniofacial disordersanatomical pathologyoral pathologydevelopmental anomaliescleft lipanatomygross anatomycraniofacial surgeryorofacial clefting

Xp22.33 Duplication Encompassing Par1 in a Male With Syndromic Neurodevelopmental Disorder and Tall Stature. Genes (2026)

geneticsneurologyhuman geneticsmolecular psychiatryneurogeneticsmendelian disordergenetic disordersmedical geneticsdisease gene identificationcase reportnovel missense variantt p.

Chromosome 1P31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity. Case Reports in Genetics (2025)

Evidence of Maternal Inheritance of Nizon-Isidor Syndrome in an Individual With Gamt and Tnfrsf13B Sequence Variants. Journal of Human Genetics (2025)

Zfhx3 -Associated Neural Tube Defect. BMJ Case Reports (2025)

Neurodevelopmental Delay, Musculoskeletal Disorders and Dysmorphia Associated With a Novel Pathogenic Interstitial Deletion of Chromosome 10Q21.1Q21.3. Journal of Medical Genetics (2025)

Dibyendu DuttaJennifer BlackEmily A MontoyaThomas Andrew BurrowJoseph ShiehBobbi McGivernMichelle RaymondChristina B SheedyScott C. SmithRia Garg

geneticsmedical geneticsmusculoskeletal disordersneurodevelopmental delay

Proximal Deletions of 14Q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features. American Journal of Medical Genetics Part A (2025)

Rapid Genetic Testing in the Picu: Uncovering Col4A2-Related Gould Syndrome in Super-Refractory Status Epilepticus. BMJ Case Reports (2025)

1
2
10 / page