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Author Details

Arupa Ganguly
Perelman School of Medicine, University of Pennsylvania
1983
143
48
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
38071620Improved Staging of Ciliary Body and Choroidal Melanomas Based on Estimation of Tumor Volume and Competing Risk Analyses.Ophthalmology2024
36322462Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.Am J Med Genet A2023
35801361A prognostic classification system for uveal melanoma based on a combination of patient age and sex, the American Joint Committee on Cancer and the Cancer Genome Atlas models.Acta Ophthalmol2023
37154160Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.JCI Insight2023
37167878The association between maternal nutrient intake during pregnancy and the risk of sporadic unilateral retinoblastoma among offspring.Cancer Epidemiol2023
34780841Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color.Ophthalmology2022
35674212Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.Eur J Endocrinol2022
35431092Reply.Ophthalmology2022
36249692Improved Uveal Melanoma Copy Number Subtypes Including an Ultra-High-Risk Group.Ophthalmol Sci2022
35952631Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.Horm Res Paediatr2022
34793831Adding the Cancer Genome Atlas Chromosome Classes to American Joint Committee on Cancer System Offers More Precise Prognostication in Uveal Melanoma.Ophthalmology2022
29994997GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME.Retin Cases Brief Rep2021
35051255Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrum.HGG Adv2021
34704098SARS-CoV-2 variants associated with vaccine breakthrough in the Delaware Valley through summer 2021.medRxiv2021
34697083Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.Cold Spring Harb Mol Case Stud2021
34107024The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome.Nucleic Acids Res2021
34146040Ten-year outcomes of uveal melanoma based on The Cancer Genome Atlas (TCGA) classification in 1001 cases.Indian J Ophthalmol2021
34140662Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
33974722Prenatal molecular testing and diagnosis of Beckwith-Wiedemann syndrome.Prenat Diagn2021
34082799Detection of SARS-CoV-2 RNA using RT-LAMP and molecular beacons.Genome Biol2021
34081141Effect of Opt-In vs Opt-Out Framing on Enrollment in a COVID-19 Surveillance Testing Program: The COVID SAFE Randomized Clinical Trial.JAMA Netw Open2021
33244166De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.Genet Med2021
32500425Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue.Head Neck Pathol2021
32430359Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.J Med Genet2021
3232005011p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.Cancer2020
35047831Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrum.HGG Adv2020
31944225Accuracy of The Cancer Genome Atlas Classification vs American Joint Committee on Cancer Classification for Prediction of Metastasis in Patients With Uveal Melanoma.JAMA Ophthalmol2020
32743912Medical radiation exposure and risk of sporadic retinoblastoma.Pediatr Blood Cancer2020
32670376Coexistence of paternally-inherited <i>ABCC8</i> mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.Int J Pediatr Endocrinol2020
31026493Genetic Analysis of Uveal Melanoma in 658 Patients Using the Cancer Genome Atlas Classification of Uveal Melanoma as A, B, C, and D.Ophthalmology2019
31755428Prognostication of uveal melanoma is simple and highly predictive using The Cancer Genome Atlas (TCGA) classification: A review.Indian J Ophthalmol2019
31414570Congenital hyperinsulinism disorders: Genetic and clinical characteristics.Am J Med Genet C Semin Med Genet2019
31469230Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.Am J Med Genet C Semin Med Genet2019
31464105Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.Am J Med Genet A2019
31067005Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.Am J Med Genet A2019
30761771Molecular diagnosis of somatic overgrowth conditions: A single-center experience.Mol Genet Genomic Med2019
27749792MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION.Retin Cases Brief Rep2018
29932284Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.Pediatr Blood Cancer2018
29902804Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.Horm Res Paediatr2018
30477459Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.BMC Cancer2018
29755268Cytogenetic results of choroidal nevus growth into melanoma in 55 consecutive cases.Saudi J Ophthalmol2018
29074554Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group.Occup Environ Med2018
27967291Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.J Clin Endocrinol Metab2017
28193182De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.BMC Genomics2017
28131887Residential Pesticide Exposures in Pregnancy and the Risk of Sporadic Retinoblastoma: A Report From the Children's Oncology Group.Am J Ophthalmol2017
28159380Cytogenetic Abnormalities in Uveal Melanoma Based on Tumor Features and Size in 1059 Patients: The 2016 W. Richard Green Lecture.Ophthalmology2017
28495150Personalized Prognosis of Uveal Melanoma Based on Cytogenetic Profile in 1059 Patients over an 8-Year Period: The 2017 Harry S. Gradle Lecture.Ophthalmology2017
28211617Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma.Cancer Med2017
28828481PRiMeUM: A Model for Predicting Risk of Metastasis in Uveal Melanoma.Invest Ophthalmol Vis Sci2017
28898695Identification of GPC2 as an Oncoprotein and Candidate Immunotherapeutic Target in High-Risk Neuroblastoma.Cancer Cell2017
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Collaborators

Kim E Nichols
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Beate Ritz
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Emilie Lalonde
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Helena Kuivaniemi
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Hakon Hakonarson
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National Human Genome Research Institute, National Institutes of Health
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Alex Kentsis
Memorial Sloan-Kettering Cancer Center
Co-authored papers 2
Yize Li
Co-authored papers 1
Jinghui Zhang
Changhai Hospital, Second Military Medical University
Co-authored papers 1
Alexander R Judkins
Co-authored papers 1
Jaak Jaeken
Co-authored papers 1
Vardit Ravitsky (CM4AI)
The Hastings Center
Co-authored papers 1
Kathleen A Calzone
National Institutes of Health, National Cancer Institute, Center for Cancer Research
Co-authored papers 1
Benjamin S Abella
University of Pennsylvania
Co-authored papers 1
Stanley Pounds
St. Jude Children's Research Hospital.
Co-authored papers 1
Maria V Lane
Co-authored papers 1
Release 1.2