Evaluation of imputation performance of multiple reference panels in a Pakistani population

Authors: Jiayi Xu, Dongjing Liu, Arsalan Hassan, Giulio Genovese, Alanna C. Cote, Brian Fennessy, Esther Cheng, Alexander W. Charney, James A. Knowles, Muhammad Ayub, Roseann E. Peterson, Tim B. Bigdeli, Laura M. Huckins

Source: HGG Advances, Vol 6, Iss 2, Pp 100395- (2025)

Subject Terms: Genetics, genome-wide association studies, imputation, imputation panels, South Asian ancestry, Pakistan, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001350; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/64265c7a04a44c38a3f1cf2e0e2b716a

Divergent landscapes of A-to-I editing in postmortem and living human brain

Authors: Miguel Rodriguez de los Santos, Brian H. Kopell, Ariela Buxbaum Grice, Gauri Ganesh, Andy Yang, Pardis Amini, Lora E. Liharska, Eric Vornholt, John F. Fullard, Pengfei Dong, Eric Park, Sarah Zipkowitz, Deepak A. Kaji, Ryan C. Thompson, Donjing Liu, You Jeong Park, Esther Cheng, Kimia Ziafat, Emily Moya, Brian Fennessy, Lillian Wilkins, Hannah Silk, Lisa M. Linares, Brendan Sullivan, Vanessa Cohen, Prashant Kota, Claudia Feng, Jessica S. Johnson, Marysia-Kolbe Rieder, Joseph Scarpa, Girish N. Nadkarni, Minghui Wang, Bin Zhang, Pamela Sklar, Noam D. Beckmann, Eric E. Schadt, Panos Roussos, Alexander W. Charney, Michael S. Breen

Source: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/da9c46017e36443fb5aa615c25a1975d

Racial disparity in tumor microenvironment and distant recurrence in residual breast cancer after neoadjuvant chemotherapy

Authors: Gina Kim, Burcu Karadal-Ferrena, Jiyue Qin, Ved P. Sharma, Isabelle S. Oktay, Yu Lin, Xianjun Ye, Saeed Asiry, Jessica M. Pastoriza, Esther Cheng, Nurfiza Ladak, John S. Condeelis, Esther Adler, Paula S. Ginter, Timothy D’Alfonso, David Entenberg, Xiaonan Xue, Joseph A. Sparano, Maja H. Oktay

Source: npj Breast Cancer, Vol 9, Iss 1, Pp 1-11 (2023)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2374-4677

Access URL: https://doaj.org/article/709b4bab0c9a4e758abfcd34536d7c48

Development of multiple AI pipelines that predict neoadjuvant chemotherapy response of breast cancer using H&E‐stained tissues

Authors: Bin Shen, Akira Saito, Ai Ueda, Koji Fujita, Yui Nagamatsu, Mikihiro Hashimoto, Masaharu Kobayashi, Aashiq H Mirza, Hans Peter Graf, Eric Cosatto, Shoichi Hazama, Hiroaki Nagano, Eiichi Sato, Jun Matsubayashi, Toshitaka Nagao, Esther Cheng, Syed AF Hoda, Takashi Ishikawa, Masahiko Kuroda

Source: The Journal of Pathology: Clinical Research, Vol 9, Iss 3, Pp 182-194 (2023)

Subject Terms: artificial intelligence, breast cancer, digital pathology, neoadjuvant chemotherapy, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/2056-4538

Access URL: https://doaj.org/article/31f0ebf38d2a45079aab44a7939e1ebb

Circulating proteins to predict COVID-19 severity

Authors: Chen-Yang Su, Sirui Zhou, Edgar Gonzalez-Kozlova, Guillaume Butler-Laporte, Elsa Brunet-Ratnasingham, Tomoko Nakanishi, Wonseok Jeon, David R. Morrison, Laetitia Laurent, Jonathan Afilalo, Marc Afilalo, Danielle Henry, Yiheng Chen, Julia Carrasco-Zanini, Yossi Farjoun, Maik Pietzner, Nofar Kimchi, Zaman Afrasiabi, Nardin Rezk, Meriem Bouab, Louis Petitjean, Charlotte Guzman, Xiaoqing Xue, Chris Tselios, Branka Vulesevic, Olumide Adeleye, Tala Abdullah, Noor Almamlouk, Yara Moussa, Chantal DeLuca, Naomi Duggan, Erwin Schurr, Nathalie Brassard, Madeleine Durand, Diane Marie Del Valle, Ryan Thompson, Mario A. Cedillo, Eric Schadt, Kai Nie, Nicole W. Simons, Konstantinos Mouskas, Nicolas Zaki, Manishkumar Patel, Hui Xie, Jocelyn Harris, Robert Marvin, Esther Cheng, Kevin Tuballes, Kimberly Argueta, Ieisha Scott, The Mount Sinai COVID-19 Biobank Team, Celia M. T. Greenwood, Clare Paterson, Michael A. Hinterberg, Claudia Langenberg, Vincenzo Forgetta, Joelle Pineau, Vincent Mooser, Thomas Marron, Noam D. Beckmann, Seunghee Kim-schulze, Alexander W. Charney, Sacha Gnjatic, Daniel E. Kaufmann, Miriam Merad, J. Brent Richards

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/01337ffce78741589c060c556f78383f

Author Correction: Divergent landscapes of A-to-I editing in postmortem and living human brain

Authors: Miguel Rodriguez de los Santos, Brian H. Kopell, Ariela Buxbaum Grice, Gauri Ganesh, Andy Yang, Pardis Amini, Lora E. Liharska, Eric Vornholt, John F. Fullard, Pengfei Dong, Eric Park, Sarah Zipkowitz, Deepak A. Kaji, Ryan C. Thompson, Donjing Liu, You Jeong Park, Esther Cheng, Kimia Ziafat, Emily Moya, Brian Fennessy, Lillian Wilkins, Hannah Silk, Lisa M. Linares, Brendan Sullivan, Vanessa Cohen, Prashant Kota, Claudia Feng, Jessica S. Johnson, Marysia-Kolbe Rieder, Joseph Scarpa, Girish N. Nadkarni, Minghui Wang, Bin Zhang, Pamela Sklar, Noam D. Beckmann, Eric E. Schadt, Panos Roussos, Alexander W. Charney, Michael S. Breen

Source: Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/6b78479b7e5842348e4a57387c084ff0

Downregulation of exhausted cytotoxic T cells in gene expression networks of multisystem inflammatory syndrome in children

Authors: Noam D. Beckmann, Phillip H. Comella, Esther Cheng, Lauren Lepow, Aviva G. Beckmann, Scott R. Tyler, Konstantinos Mouskas, Nicole W. Simons, Gabriel E. Hoffman, Nancy J. Francoeur, Diane Marie Del Valle, Gurpawan Kang, Anh Do, Emily Moya, Lillian Wilkins, Jessica Le Berichel, Christie Chang, Robert Marvin, Sharlene Calorossi, Alona Lansky, Laura Walker, Nancy Yi, Alex Yu, Jonathan Chung, Matthew Hartnett, Melody Eaton, Sandra Hatem, Hajra Jamal, Alara Akyatan, Alexandra Tabachnikova, Lora E. Liharska, Liam Cotter, Brian Fennessy, Akhil Vaid, Guillermo Barturen, Hardik Shah, Ying-chih Wang, Shwetha Hara Sridhar, Juan Soto, Swaroop Bose, Kent Madrid, Ethan Ellis, Elyze Merzier, Konstantinos Vlachos, Nataly Fishman, Manying Tin, Melissa Smith, Hui Xie, Manishkumar Patel, Kai Nie, Kimberly Argueta, Jocelyn Harris, Neha Karekar, Craig Batchelor, Jose Lacunza, Mahlet Yishak, Kevin Tuballes, Ieisha Scott, Arvind Kumar, Suraj Jaladanki, Charuta Agashe, Ryan Thompson, Evan Clark, Bojan Losic, Lauren Peters, The Mount Sinai COVID-19 Biobank Team, Panagiotis Roussos, Jun Zhu, Wenhui Wang, Andrew Kasarskis, Benjamin S. Glicksberg, Girish Nadkarni, Dusan Bogunovic, Cordelia Elaiho, Sandeep Gangadharan, George Ofori-Amanfo, Kasey Alesso-Carra, Kenan Onel, Karen M. Wilson, Carmen Argmann, Supinda Bunyavanich, Marta E. Alarcón-Riquelme, Thomas U. Marron, Adeeb Rahman, Seunghee Kim-Schulze, Sacha Gnjatic, Bruce D. Gelb, Miriam Merad, Robert Sebra, Eric E. Schadt, Alexander W. Charney

Source: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/7233a40d610f443eac2e6011b12c9368

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Authors: Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

Source: PLoS Genetics, Vol 18, Iss 11, p e1010367 (2022)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010367&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/5f79e367675d482a9faf89902afbc030

Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort

Authors: Rachel Martini, Yalei Chen, Brittany D. Jenkins, Isra A. Elhussin, Esther Cheng, Syed A. Hoda, Paula S. Ginter, Jeffrey Hanover, Rozina B. Zeidan, Joseph K. Oppong, Ernest K. Adjei, Aisha Jibril, Dhananjay Chitale, Jessica M. Bensenhaver, Baffour Awuah, Mahteme Bekele, Engida Abebe, Ishmael Kyei, Frances S. Aitpillah, Michael O. Adinku, Kwasi Ankomah, Ernest B. Osei-Bonsu, Saul David Nathansan, LaToya Jackson, Evelyn Jiagge, Lindsay F. Petersen, Erica Proctor, Petros Nikolinakos, Kofi K. Gyan, Clayton Yates, Rick Kittles, Lisa A. Newman, Melissa B. Davis

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/293723ba5c174d8fa209051f5c7c3e6a

Whole‐exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma

Authors: Timothy M D'Alfonso, Fresia Pareja, Arnaud Da Cruz Paula, Mahsa Vahdatinia, Andrea Gazzo, Lorenzo Ferrando, Edaise M da Silva, Esther Cheng, Lisa Sclafani, Sarat Chandarlapaty, Hong Zhang, Syed A Hoda, Hannah Y Wen, Edi Brogi, Britta Weigelt, Jorge S Reis‐Filho

Source: The Journal of Pathology: Clinical Research, Vol 7, Iss 2, Pp 113-120 (2021)

Subject Terms: juvenile papillomatosis, PIK3CA, breast carcinoma, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/2056-4538

Access URL: https://doaj.org/article/f30c2cca903d4d859d3f9b547aded646

Cell Type-Specific In Vitro Gene Expression Profiling of Stem Cell-Derived Neural Models

Authors: James A. Gregory, Emily Hoelzli, Rawan Abdelaal, Catherine Braine, Miguel Cuevas, Madeline Halpern, Natalie Barretto, Nadine Schrode, Güney Akbalik, Kristy Kang, Esther Cheng, Kathryn Bowles, Steven Lotz, Susan Goderie, Celeste M. Karch, Sally Temple, Alison Goate, Kristen J. Brennand, Hemali Phatnani

Source: Cells, Vol 9, Iss 6, p 1406 (2020)

Subject Terms: hiPSC, neuron, glia, RiboTag, bacTRAP, genomics, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/6/1406; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/051c6b7b3fc94f27b8244d1722c52ff2

Pulmonary alveolar proteinosis in children: An update on pathogenesis, clinical features and review of literature

Authors: Ahmad Hamed, Daniel Rosenbaum, Esther Cheng, Rizwana Popatia

Source: Journal of Pediatric Critical Care, Vol 3, Iss 3, Pp 22-32 (2016)

Subject Terms: pulmonary alveolar proteinosis, granulocyte macrophage colony-stimulating factor, surfactant protein, lipoproteinaceous material, crazy paving, whole lung lavage, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.jpcc.org.in/article.asp?issn=2349-6592;year=2016;volume=3;issue=3;spage=22;epage=32;aulast=Hamed; https://doaj.org/toc/2349-6592; https://doaj.org/toc/2455-7099

Access URL: https://doaj.org/article/d9a7c61d34234e46adc73b9236372bf2

Glucagon receptor modulators

GLUCAGON RECEPTOR MODULATORS

Subareolar Sclerosing Ductal Hyperplasia: Further Characterization of a Distinctive Clinicopathological Entity.

Authors: Esther Cheng¹, D'Alfonso, Timothy M.^1,2, Arafah, Maria³, Rolon, Rebecca Marrero^1,2, Ginter, Paula S.^1,2, Hoda, Syed A.^1,2 sahoda@med.cornell.edu

Source: International Journal of Surgical Pathology. Feb2017, Vol. 25 Issue 1, p4-11. 8p.

Subject Terms: *BREAST cancer research, *PAPILLARY carcinoma, *MASTECTOMY, *BREAST biopsy, *FOLLOW-up studies (Medicine), *IMMUNOSTAINING, *CLINICAL pathology