Arupa Ganguly - Publications, H-index & Citations

Arupa Ganguly

pennsylvania medicine

57H指数

222论文数

1.1W被引数

收录论文 87

发表时间

High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data WAGR谱系障碍的高分辨率基因组特征分析：来自一个新型队列和文献综述的见解，以及患者报告数据的验证

American Journal of Medical Genetics Part A

IF1.7

2026-09-01

OAAI

George, Andrew M.; Duki, Bamelak T.; Katz, Zoe S.; Viswanathan, Aravind; MacFarland, Suzanne P.; Hathaway, Evan R.; Monahan, Caitlin; Morris, John; Trout, Kelly L.; Krantz, Shari M.; Ganguly, Arupa; Kalish, Jennifer M.

Non-coding variants in intron 2 of HK1 associated with hyperinsulinism with variable clinical phenotype HK1基因内含子2中的非编码变异与临床表型不定的高胰岛素血症相关

The Journal of Clinical Endocrinology & Metabolism

IF0

2026-03-10

OAAI

Kara E Boodhansingh; Katherine Lord; Winnie Sigal; Joshua E Benjet; Pan Chen; Christine A Juliana; Lauren Mitteer; Tricia Bhatti; Charles A Stanley; Diva D De Leon; Arupa Ganguly

Determinants of Hyperinsulinism Severity in Children with Beckwith-Wiedemann Syndrome 贝克威思-威德曼综合征患儿高胰岛素血症严重程度的决定因素

The Journal of Clinical Endocrinology & Metabolism

IF0

2026-02-08

OAAI

Andrew M George, BS; Aravind Viswanathan, BA; Jonathan H Sussman, PhD; Evan R Hathaway, MS; Abigail Casalnova, MSN CRNP; Salima Nesbitt, BSN RN; Kara E Boodhansingh, MS; Nicole M Stewart, BSN RN; Heather J McKnight, MSN CRNP; Katherine Lord, MD; Diva D De León, MD; Charles A Stanley, MD; N Scott Adzick, MD; Arupa Ganguly, PhD; Jennifer M Kalish, MD PhD

Metastasis-free survival outcomes of uveal melanoma based on The Cancer Genome Atlas classification in 1585 cases 基于The Cancer Genome Atlas分类的1585例眼内黑色素瘤的无转移生存结局

Canadian Journal of Ophthalmology

IF0

2025-06-19

PREAI

Carol L. Shields; Henry Nguyen; Shady Mina; Gabrielle E. Kozlowski; Ayra Khan; Madison M. Woods; Rolika Bansal; Hidayet Sener; Arupa Ganguly; Sara E. Lally; Jerry A. Shields

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity 脉络膜黑色素瘤全基因组关联研究的meta分析确定了新的风险位点及人群效应量异质性

Human Genetics and Genomics Advances

IF3.6

2025-06-09

OAAI

Georgia Mies; Noah L. Tsao; Alexandre Houy; Sarah E. Coupland; Helen Kalirai; Asta Försti; Kari Hemminki; Hauke Thomsen; Marc-Henri Stern; Carol L. Shields; Scott M. Damrauer; Katheryn G. Ewens; Arupa Ganguly; Iain Mathieson

Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1 先天性高胰岛素血症和长QT综合征，归因于KCNE1基因中的一个变异。

HORMONE RESEARCH IN PAEDIATRICS

IF2.7

2025-01-08

OAAI

Sigal, Winifred; Boodhansingh, Kara E.; Ganguly, Arupa; Mitteer, Lauren M.; Stanley, Charles A.

Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2024-10-09

OAAI

Boodhansingh, Kara E.; Lord, Katherine; Adzick, N. Scott; Bhatti, Tricia; Ganguly, Arupa; Stanley, Charles A.; De Leon, Diva D.

Metastasis-free survival of uveal melanoma by tumour size category based on The Cancer Genome Atlas (TCGA) classification in 1001 cases

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

IF5.6

2024-10-04

PREAI

Bansal, Rolika; Sener, Hidayet; Ganguly, Arupa; Shields, Jerry A.; Shields, Carol L.

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1

HUMAN MUTATION

IF3.7

2024-05-18

OAAI

DeMille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A.; Jovine, Luca; Shovlin, Claire L.; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S.; Jessen, Jaime; Massink, Maarten P. G.; Ichikawa, Shoji; Bayrak-Toydemir, Pinar

Improved Staging of Ciliary Body and Choroidal Melanomas Based on Estimation of Tumor Volume and Competing Risk Analyses

OPHTHALMOLOGY

IF9.5

2024-04-01

PREAI

Stalhammar, Gustav; Coupland, Sarah E.; Ewens, Kathryn G.; Ganguly, Arupa; Heimann, Heinrich; Shields, Carol L.; Damato, Bertil

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

JCI INSIGHT

IF6.1

2023-05-08

OAAI

Sheppard, Sarah E.; March, Michael E.; Seiler, Christoph; Matsuoka, Leticia S.; Kim, Sophia E.; Kao, Charlly; Rubin, Adam I.; Battig, Mark R.; Khalek, Nahla; Schindewolf, Erica; O'Connor, Nora; Pinto, Erin; Priestley, Jessica R. C.; Sanders, Victoria R.; Niazi, Rojeen; Ganguly, Arupa; Hou, Cuiping; Slater, Diana; Frieden, Ilona J.; Huynh, Thy; Shieh, Joseph T.; Krantz, Ian D.; Guerrero, Jessenia C.; Surrey, Lea F.; Biko, David M.; Laje, Pablo; Castelo-Soccio, Leslie; Nakano, Taizo A.; Snyder, Kristen; Smith, Christopher L.; Li, Dong; Dori, Yoav; Hakonarson, Hakon

A 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 OPHTHALMOLOGICA

IF2.8

2022-07-08

OAAI

Gill, Viktor T.; Sabazade, Shiva; Herrspiegel, Christina; Ewens, Kathryn G.; Opalko, Adrianna; Dan, Nicole; Christersdottir, Tinna; Berg Rendahl, Alexander; Shields, Carol L.; Seregard, Stefan; Ganguly, Arupa; Stalhammar, Gustav

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations

EUROPEAN JOURNAL OF ENDOCRINOLOGY

IF5.2

2022-06-27

OAAI

Boodhansingh, Kara E.; Yang, Zhongying; Li, Changhong; Chen, Pan; Lord, Katherine; Becker, Susan A.; States, Lisa J.; Adzick, N. Scott; Bhatti, Tricia; Shyng, Show-Ling; Ganguly, Arupa; Stanley, Charles A.; De Leon, Diva D.

Improved Uveal Melanoma Copy Number Subtypes Including an Ultra-High-Risk Group

OPHTHALMOLOGY SCIENCE

IF4.6

2022-06-01

OAAI

Lalonde, Emilie; Ewens, Kathryn; Richards-Yutz, Jennifer; Ebrahimzedeh, Jessica; Terai, Mizue; Gonsalves, Cann F.; Sato, Takami; Shields, Carol L.; Ganguly, Arupa

Adding the Cancer Genome Atlas Chromosome Classes to American Joint Committee on Cancer System Offers More Precise Prognostication in Uveal Melanoma

OPHTHALMOLOGY

IF9.5

2022-04-01

OAAI

Gelmi, Maria Chiara; Bas, Zeynep; Malkani, Kabir; Ganguly, Arupa; Shields, Carol L.; Jager, Martine J.

Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color 葡萄膜黑色素瘤的3号和8q染色体畸变对浅色虹膜患者的生存影响更大与深色虹膜患者相比

OPHTHALMOLOGY

IF9.5

2022-04-01

OAAI

Wierenga, Annemijn P. A.; Brouwer, Niels J.; Gelmi, Maria Chiara; Verdijk, Robert M.; Stern, Marc-Henri; Bas, Zeynep; Malkani, Kabir; van Duinen, Sjoerd G.; Ganguly, Arupa; Kroes, Wilma G. M.; Marinkovic, Marina; Luyten, Gregorius P. M.; Shields, Carol L.; Jager, Martine J.

SARS-CoV-2 Variants Associated with Vaccine Breakthrough in the Delaware Valley through Summer 2021 与2021夏季特拉华河谷疫苗突破相关的SARS-CoV-2变异

MBIO

IF4.7

2022-02-22

OAAI

Marques, Andrew D.; Sherrill-Mix, Scott; Everett, John K.; Reddy, Shantan; Hokama, Pascha; Roche, Aoife M.; Hwang, Young; Glascock, Abigail; Whiteside, Samantha A.; Graham-Wooten, Jevon; Khatib, Layla A.; Fitzgerald, Ayannah S.; Moustafa, Ahmed M.; Bianco, Colleen; Rajagopal, Swetha; Helton, Jenna; Deming, Regan; Denu, Lidiya; Ahmed, Azad; Kitt, Eimear; Coffin, Susan E.; Newbern, Claire; Mell, Josh Chang; Planet, Paul J.; Badjatia, Nitika; Richards, Bonnie; Wang, Zi-Xuan; Cannuscio, Carolyn C.; Strelau, Katherine M.; Jaskowiak-Barr, Anne; Cressman, Leigh; Loughrey, Sean; Ganguly, Arupa; Feldman, Michael D.; Collman, Ronald G.; Rodino, Kyle G.; Kelly, Brendan J.; Bushman, Frederic D.

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum (vol 1, pg 100009-1, 2020)

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-01-01

OAAI

Koutlas, Ioannis G.; Anbinder, Ana-Lia; Alshagroud, Rana; Cavalcante, Ana Sueli Rodrigues; Al Kindi, Mohammed; Crenshaw, Molly M.; Sapp, Julie C.; Kondolf, Hannah; Lindhurst, Marjorie J.; Dudley, Jeffrey N.; Johnston, Jennifer J.; Ryan, Elyse; Rafferty, Keith; Ganguly, Arupa; Biesecker, Leslie G.

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

GENETICS IN MEDICINE

IF6.2

2021-10-01

OAAI

Mao, Rong; Krautscheid, Patti; Graham, Rondell P.; Ganguly, Arupa; Shankar, Suma; Ferber, Matthew; Hegde, Madhuri

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome

NUCLEIC ACIDS RESEARCH

IF13.1

2021-06-09

OAAI

Naveh, Natali S. Sobel; Deegan, Daniel F.; Huhn, Jacklyn; Traxler, Emily; Lan, Yemin; Weksberg, Rosanna; Ganguly, Arupa; Engel, Nora; Kalish, Jennifer M.

研究方向