ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)
Hegde, Madhuri, Ferber, Mathew, Mao, Rong, Samowitz, Wade, Ganguly, Arupa
Published in Genetics in medicine (2014)
Published in Genetics in medicine (2014)
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Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Mao, Rong, Krautscheid, Patti, Graham, Rondell P., Ganguly, Arupa, Shankar, Suma, Ferber, Matthew, Hegde, Madhuri
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Journal Article
Detection of SARS-CoV-2 RNA using RT-LAMP and molecular beacons
Sherrill-Mix, Scott, Hwang, Young, Roche, Aoife M, Glascock, Abigail, Weiss, Susan R, Li, Yize, Haddad, Leila, Deraska, Peter, Monahan, Caitlin, Kromer, Andrew, Graham-Wooten, Jevon, Taylor, Louis J, Abella, Benjamin S, Ganguly, Arupa, Collman, Ronald G, Van Duyne, Gregory D, Bushman, Frederic D
Published in Genome Biology (03.06.2021)
Published in Genome Biology (03.06.2021)
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Journal Article
Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management
Duffy, Kelly A., Cielo, Christopher M., Cohen, Jennifer L., Gonzalez‐Gandolfi, Christina X., Griff, Jessica R., Hathaway, Evan R., Kupa, Jonida, Taylor, Jesse A., Wang, Kathleen H., Ganguly, Arupa, Deardorff, Matthew A., Kalish, Jennifer M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome
Naveh, Natali S Sobel, Deegan, Daniel F, Huhn, Jacklyn, Traxler, Emily, Lan, Yemin, Weksberg, Rosanna, Ganguly, Arupa, Engel, Nora, Kalish, Jennifer M
Published in Nucleic acids research (21.06.2021)
Published in Nucleic acids research (21.06.2021)
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Journal Article
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
Personalized Prognosis of Uveal Melanoma Based on Cytogenetic Profile in 1059 Patients over an 8-Year Period
Shields, Carol L., MD, Say, Emil Anthony T., MD, Hasanreisoglu, Murat, MD, Saktanasate, Jarin, MD, Lawson, Brendan M., BS, Landy, Jeffrey E., BA, Badami, Anjali U., BS, Sivalingam, Meera D., BS, Hauschild, Alexander J, House, Robert J., BA, Daitch, Zachary E., BS, Mashayekhi, Arman, MD, Shields, Jerry A., MD, Ganguly, Arupa, PhD
Published in Ophthalmology (Rochester, Minn.) (01.10.2017)
Published in Ophthalmology (Rochester, Minn.) (01.10.2017)
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Journal Article
Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management
Sheppard, Sarah E., Lalonde, Emilie, Adzick, N. Scott, Beck, Anita E., Bhatti, Tricia, De Leon, Diva D., Duffy, Kelly A., Ganguly, Arupa, Hathaway, Evan, Ji, Jianling, Linn, Rebecca, Lord, Katherine, Randolph, Linda M., Sajorda, Brian, States, Lisa, Conlin, Laura K., Kalish, Jennifer M.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Prognosis of Uveal Melanoma in 500 Cases Using Genetic Testing of Fine-Needle Aspiration Biopsy Specimens
Shields, Carol L., MD, Ganguly, Arupa, PhD, Bianciotto, Carlos G., MD, Turaka, Kiran, MD, Tavallali, Ali, MD, Shields, Jerry A., MD
Published in Ophthalmology (Rochester, Minn.) (01.02.2011)
Published in Ophthalmology (Rochester, Minn.) (01.02.2011)
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Journal Article
Ten-year outcomes of uveal melanoma based on The Cancer Genome Atlas (TCGA) classification in 1001 cases
Shields, Carol, Mayro, Eileen, Bas, Zeynep, Dockery, Philip, Yaghy, Antonio, Lally, Sara, Ganguly, Arupa, Shields, Jerry
Published in Indian journal of ophthalmology (01.07.2021)
Published in Indian journal of ophthalmology (01.07.2021)
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Journal Article
Medical radiation exposure and risk of sporadic retinoblastoma
Shakeel, Omar, Pace, Nelson, Chambers, Tiffany M., Scheurer, Michael E., Ganguly, Arupa A., Lupo, Philip J., Bunin, Greta R.
Published in Pediatric blood & cancer (01.11.2020)
Published in Pediatric blood & cancer (01.11.2020)
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Journal Article
Early diagnosis of fibrodysplasia ossificans progressiva
Kaplan, Frederick S, Xu, Meiqi, Glaser, David L, Collins, Felicity, Connor, Michael, Kitterman, Joseph, Sillence, David, Zackai, Elaine, Ravitsky, Vardit, Zasloff, Michael, Ganguly, Arupa, Shore, Eileen M
Published in Pediatrics (Evanston) (01.05.2008)
Published in Pediatrics (Evanston) (01.05.2008)
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Sporadic Retinoblastoma and Parental Smoking and Alcohol Consumption before and after Conception: A Report from the Children's Oncology Group
Azary, Saeedeh, Ganguly, Arupa, Bunin, Greta R, Lombardi, Christina, Park, Andrew S, Ritz, Beate, Heck, Julia E
Published in PloS one (18.03.2016)
Published in PloS one (18.03.2016)
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Journal Article
Prognostication of uveal melanoma is simple and highly predictive using The Cancer Genome Atlas (TCGA) classification: A review
Shields, Carol, Dalvin, Lauren, Vichitvejpaisal, Pornpattana, Mazloumi, Mehdi, Ganguly, Arupa, Shields, Jerry
Published in Indian journal of ophthalmology (01.12.2019)
Published in Indian journal of ophthalmology (01.12.2019)
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Journal Article
Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features
Ayari-Jeridi, Hajer, Moran, Kimberly, Chebbi, Amel, Bouguila, Hédi, Abbes, Imen, Charradi, Khaoula, Benammar-Elgaaïed, Amel, Ganguly, Arupa
Published in PloS one (20.01.2015)
Published in PloS one (20.01.2015)
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Journal Article
RB1 gene inactivation by chromothripsis in human retinoblastoma
McEvoy, Justina, Nagahawatte, Panduka, Finkelstein, David, Richards-Yutz, Jennifer, Valentine, Marcus, Ma, Jing, Mullighan, Charles, Song, Guangchun, Chen, Xiang, Wilson, Matthew, Brennan, Rachel, Pounds, Stanley, Becksfort, Jared, Huether, Robert, Lu, Charles, Fulton, Robert S, Fulton, Lucinda L, Hong, Xin, Dooling, David J, Ochoa, Kerri, Mardis, Elaine R, Wilson, Richard K, Easton, John, Zhang, Jinghui, Downing, James R, Ganguly, Arupa, Dyer, Michael A
Published in Oncotarget (30.01.2014)
Published in Oncotarget (30.01.2014)
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Case Report: Functional characterization of a missense variant in INSR associated with hypoketotic hypoglycemia
Guzman, Herodes, Mitteer, Lauren M, Chen, Pan, Juliana, Christine A, Boodhansingh, Kara, Lord, Katherine, Ganguly, Arupa, De Leon, Diva D
Published in Frontiers in pediatrics (17.10.2024)
Published in Frontiers in pediatrics (17.10.2024)
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Journal Article
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2
Duffy, Kelly A, Hathaway, Evan R, Klein, Steven D, Ganguly, Arupa, Kalish, Jennifer M
Published in Cold Spring Harbor molecular case studies (01.12.2021)
Published in Cold Spring Harbor molecular case studies (01.12.2021)
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