Faculty

Institution

Unit

Venue

Robert Roger Lebel

Upstate Medical University

NoneRobert Roger Lebel 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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Robert Roger Lebel

Upstate Medical University

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genetics medical genetics genetic disorders human genetics pathology neurogenetics molecular genetics neurology genomics neuropathology genome biology disease gene identification molecular biology developmental anomalies mendelian disorder gene expression heredity intellectual disability genetic epidemiology neurodevelopmental disorders molecular diagnostics molecular medicine molecular cell biology mutagenesis degenerative disease genomic medicine thyroid respiratory medicine craniofacial research cytogenetics genetic testing behavioral disorders violent behavior behavioral research redox biology molecular neurodegeneration clinical proteomics developmental system developmental genetics molecular basis behavioral issues behavioral syndromes primate behavior human polymorphisms gene editing mitochondrial function chromosomal rearrangements molecular characterization neurochemical biomarkers genomic mechanisms stereotypic movement disorder case series molecular imprinting fetal medicine prenatal diagnosis facial reconstruction dermatopathology genetic counseling host genetics genome-wide association studies rare copy-number variants genomic disorders phenotypic heterogeneity novo mutations epileptic encephalopathies complex behavioral phenotype microdeletion syndrome polymerase mutation distinctive phenotype tandem dup multiple congenital anomalies ambiguous genitalia multiple malformations novel gene developmental delay spliceosome malfunction

Notable Scholarly Works

Notable Federal Grants

Collaborators

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

genomicsgenome biologygene expressionvariant interpretationhereditygeneticsmolecular cell biologydisease gene identificationgene functionmolecular diagnosticsmolecular geneticsmolecular biologyallelic variantphenotypic rangeppp1r3f genehuman genetics

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)

genome biologypathogenesisgeneticsallelic variantdisease gene identificationcompound heterozygositymolecular diagnosticsmolecular geneticssmg9 genemedical genetics15-year-old femalepathologygenetic disordersgenetic epidemiology

A Novel Kdm5C Variant Corrects a Previously Erroneous Diagnosis. European Journal of Medical Genetics (2025)

diagnosisnovel kdm5c variantdisease gene identificationmolecular diagnosticspathology

Monosomy 10 Mosaicism as an Incidental Finding in Acute Lymphoblastic Leukemia. Pediatric Blood & Cancer (2025)

hematological malignanciesleukemiamonosomy 10hematologyhaematopoiesisgeneticsincidental findingacute lymphoblastic leukemiamixed-phenotype acute leukemiapathology

P403: Genotype-Phenotype Analysis of Interstitial Deletion of Chromosome 4Q25Q28.2: A Case Report. Genetics in Medicine Open (2025)

Gianna DeRobertsJennifer BlackRobert Roger Lebel

genomicsinterstitial deletiongeneticsmedical geneticsgenotype-phenotype analysisgenotype-phenotype association

P418: Novel Presentation of Congenital Bile Acid Synthesis Defect-3 With Skeletal Abnormalities and Hypotonia. Genetics in Medicine Open (2025)

Hope MarshallJennifer BlackRobert Roger LebelKristin Razawich

medicinegeneticsskeletal abnormalitiesmedical geneticsgenetic disordersmolecular medicine

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

medicineneurogeneticsneurodevelopmental delaygeneticsneurodevelopmental disordersbehavioral challengesmedical geneticsgenetic disorders

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 geneticsmedicinegenetic disordersgenetics

P469: Complex Mosaicism for Up to Three Marker Chromosomes Causing Partial Trisomy for Portions of 1P and 10P-10Q: A Case. Genetics in Medicine Open (2025)

genome biologygenetic recombinationhereditygeneticsmarker chromosomeschromosome biologymolecular geneticscytogeneticspartial trisomypathologyhuman geneticsgenetic disorderscomplex mosaicism

P490: A Rare Presentation of 1Q32Q42 Associated With a Complex Adverse Phenotype. Genetics in Medicine Open (2025)

Sidney DavisRobert Roger LebelJennifer BlackRachael Sampson

medicinegeneticscomplex adverse phenotypemedical geneticsrare presentation

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Robert Roger Lebel

Upstate Medical University

NoneRobert Roger Lebel 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

Robert Roger Lebel

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)

A Novel Kdm5C Variant Corrects a Previously Erroneous Diagnosis. European Journal of Medical Genetics (2025)

diagnosisnovel kdm5c variantdisease gene identificationmolecular diagnosticspathology

Monosomy 10 Mosaicism as an Incidental Finding in Acute Lymphoblastic Leukemia. Pediatric Blood & Cancer (2025)

hematological malignanciesleukemiamonosomy 10hematologyhaematopoiesisgeneticsincidental findingacute lymphoblastic leukemiamixed-phenotype acute leukemiapathology

P403: Genotype-Phenotype Analysis of Interstitial Deletion of Chromosome 4Q25Q28.2: A Case Report. Genetics in Medicine Open (2025)

Gianna DeRobertsJennifer BlackRobert Roger Lebel

genomicsinterstitial deletiongeneticsmedical geneticsgenotype-phenotype analysisgenotype-phenotype association

P418: Novel Presentation of Congenital Bile Acid Synthesis Defect-3 With Skeletal Abnormalities and Hypotonia. Genetics in Medicine Open (2025)

Hope MarshallJennifer BlackRobert Roger LebelKristin Razawich

medicinegeneticsskeletal abnormalitiesmedical geneticsgenetic disordersmolecular medicine

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

medicineneurogeneticsneurodevelopmental delaygeneticsneurodevelopmental disordersbehavioral challengesmedical geneticsgenetic disorders

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 geneticsmedicinegenetic disordersgenetics

P469: Complex Mosaicism for Up to Three Marker Chromosomes Causing Partial Trisomy for Portions of 1P and 10P-10Q: A Case. Genetics in Medicine Open (2025)

genome biologygenetic recombinationhereditygeneticsmarker chromosomeschromosome biologymolecular geneticscytogeneticspartial trisomypathologyhuman geneticsgenetic disorderscomplex mosaicism

P490: A Rare Presentation of 1Q32Q42 Associated With a Complex Adverse Phenotype. Genetics in Medicine Open (2025)

Sidney DavisRobert Roger LebelJennifer BlackRachael Sampson

medicinegeneticscomplex adverse phenotypemedical geneticsrare presentation

1
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3
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5
6
7
10 / page