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5,335 results on '"Perry, John"'

2. Genetic drivers and cellular selection of female mosaic X chromosome loss

Author

Liu, Aoxing, Genovese, Giulio, Zhao, Yajie, Pirinen, Matti, Zekavat, Seyedeh M., Kentistou, Katherine A., Yang, Zhiyu, Yu, Kai, Vlasschaert, Caitlyn, Liu, Xiaoxi, Brown, Derek W., Hudjashov, Georgi, Gorman, Bryan R., Dennis, Joe, Zhou, Weiyin, Momozawa, Yukihide, Pyarajan, Saiju, Tuzov, Valdislav, Pajuste, Fanny-Dhelia, Aavikko, Mervi, Sipilä, Timo P., Ghazal, Awaisa, Huang, Wen-Yi, Freedman, Neal D., Song, Lei, Gardner, Eugene J., Sankaran, Vijay G., Palotie, Aarno, Ollila, Hanna M., Tukiainen, Taru, Chanock, Stephen J., Mägi, Reedik, Natarajan, Pradeep, Daly, Mark J., Bick, Alexander, McCarroll, Steven A., Terao, Chikashi, Loh, Po-Ru, Ganna, Andrea, Perry, John R. B., and Machiela, Mitchell J.

Published
2024
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3. Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Author

Kentistou, Katherine A., Kaisinger, Lena R., Stankovic, Stasa, Vaudel, Marc, Mendes de Oliveira, Edson, Messina, Andrea, Walters, Robin G., Liu, Xiaoxi, Busch, Alexander S., Helgason, Hannes, Thompson, Deborah J., Santoni, Federico, Petricek, Konstantin M., Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F., Bratland, Eirik, Lin, Kuang, Gardner, Eugene J., Zhao, Yajie, Jia, Raina Y., Terao, Chikashi, Riggan, Marjorie J., Bolla, Manjeet K., Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonathan P., Broer, Linda, Campbell, Archie, Chasman, Daniel I., Cousminer, Diana L., Franceschini, Nora, Franke, Lude H., Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K., Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L., Mägi, Reedik, Mangino, Massimo, Medland, Sarah E., Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M., Sala, Cinzia, Smith, Albert V., Tanaka, Toshiko, van der Most, Peter J., Vitart, Veronique, Wang, Carol A., Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Auer, Paul L., Barnes, Catriona L. K., Beckmann, Matthias W., Berrington de Gonzalez, Amy, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Buring, Julie E., Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B., Demerath, Ellen W., Dennis, Joe, Devilee, Peter, De Vivo, Immaculata, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eriksson, Johan G., Fasching, Peter A., Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J., Hickey, Martha, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Hottenga, Jouke-Jan, Hu, Frank B., Huebner, Hanna, Hunter, David J., Jernström, Helena, John, Esther M., Karasik, David, Khusnutdinova, Elza K., Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Launer, Lenore J., Lind, Penelope A., Lindblom, Annika, Magnusson, Patrik K. E., Mannermaa, Arto, McCarthy, Mark I., Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y., Milne, Roger L., Montgomery, Grant W., Nevanlinna, Heli, Nolte, Ilja M., Nyholt, Dale R., Obi, Nadia, O’Brien, Katie M., Offit, Kenneth, Oldehinkel, Albertine J., Ostrowski, Sisse R., Palotie, Aarno, Pedersen, Ole B., Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R., Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P., Schipf, Sabine, Schmidt, Carsten O., Schmidt, Marjanka K., Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M., Teras, Lauren R., Tikkanen, Emmi, Turman, Constance, Vachon, Celine M., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S., Zheng, Wei, van Dijk, Ko W., Alizadeh, Behrooz Z., Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I., Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan F. A., Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A., Martin, Nicholas G., Nøhr, Ellen A., Pedersen, Nancy L., Pennell, Craig E., Ridker, Paul M., Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D., Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J., Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Widen, Elisabeth, Wilson, James F., Pharoah, Paul D. P., Li, Liming, Easton, Douglas F., Njølstad, Pål R., Sulem, Patrick, Murabito, Joanne M., Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I. Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R., Perry, John R. B., and Ong, Ken K.

Published
2024
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4. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

Author

Waters, Andrew J., Brendler-Spaeth, Timothy, Smith, Danielle, Offord, Victoria, Tan, Hong Kee, Zhao, Yajie, Obolenski, Sofia, Nielsen, Maartje, van Doorn, Remco, Murphy, Jo-Ellen, Gupta, Prashant, Rowlands, Charlie F., Hanson, Helen, Delage, Erwan, Thomas, Mark, Radford, Elizabeth J., Gerety, Sebastian S., Turnbull, Clare, Perry, John R. B., Hurles, Matthew E., and Adams, David J.

Published
2024
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8. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Author

Zhao, Yajie, Chukanova, Maria, Kentistou, Katherine A., Fairhurst-Hunter, Zammy, Siegert, Anna Maria, Jia, Raina Y., Dowsett, Georgina K. C., Gardner, Eugene J., Lawler, Katherine, Day, Felix R., Kaisinger, Lena R., Tung, Yi-Chun Loraine, Lam, Brian Yee Hong, Chen, Hsiao-Jou Cortina, Wang, Quanli, Berumen-Campos, Jaime, Kuri-Morales, Pablo, Tapia-Conyer, Roberto, Alegre-Diaz, Jesus, Barroso, Inês, Emberson, Jonathan, Torres, Jason M., Collins, Rory, Saleheen, Danish, Smith, Katherine R., Paul, Dirk S., Merkle, Florian, Farooqi, I. Sadaf, Wareham, Nick J., Petrovski, Slavé, O’Rahilly, Stephen, Ong, Ken K., Yeo, Giles S. H., and Perry, John R. B.

Published
2024
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13. Report of the Medical Image De-Identification (MIDI) Task Group -- Best Practices and Recommendations

Author

Clunie, David A., Flanders, Adam, Taylor, Adam, Erickson, Brad, Bialecki, Brian, Brundage, David, Gutman, David, Prior, Fred, Seibert, J Anthony, Perry, John, Gichoya, Judy Wawira, Kirby, Justin, Andriole, Katherine, Geneslaw, Luke, Moore, Steve, Fitzgerald, TJ, Tellis, Wyatt, Xiao, Ying, and Farahani, Keyvan

Subjects
Computer Science - Cryptography and Security, Computer Science - Computer Vision and Pattern Recognition, Electrical Engineering and Systems Science - Image and Video Processing
Abstract

This report addresses the technical aspects of de-identification of medical images of human subjects and biospecimens, such that re-identification risk of ethical, moral, and legal concern is sufficiently reduced to allow unrestricted public sharing for any purpose, regardless of the jurisdiction of the source and distribution sites. All medical images, regardless of the mode of acquisition, are considered, though the primary emphasis is on those with accompanying data elements, especially those encoded in formats in which the data elements are embedded, particularly Digital Imaging and Communications in Medicine (DICOM). These images include image-like objects such as Segmentations, Parametric Maps, and Radiotherapy (RT) Dose objects. The scope also includes related non-image objects, such as RT Structure Sets, Plans and Dose Volume Histograms, Structured Reports, and Presentation States. Only de-identification of publicly released data is considered, and alternative approaches to privacy preservation, such as federated learning for artificial intelligence (AI) model development, are out of scope, as are issues of privacy leakage from AI model sharing. Only technical issues of public sharing are addressed., Comment: 131 pages

Published
2023

18. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author

Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques

Published
2023
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21. Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Author

Radford, Elizabeth J., Tan, Hong-Kee, Andersson, Malin H. L., Stephenson, James D., Gardner, Eugene J., Ironfield, Holly, Waters, Andrew J., Gitterman, Daniel, Lindsay, Sarah, Abascal, Federico, Martincorena, Iñigo, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, Firth, Helen V., Baker, Kate, Perry, John R. B., Adams, David J., Gerety, Sebastian S., and Hurles, Matthew E.

Published
2023
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24. Reviews

Author

Perry, John

Published
2015

25. Loss of GPR75 protects against non-alcoholic fatty liver disease and body fat accumulation

Author

Leeson-Payne, Alasdair, Iyinikkel, Jean, Malcolm, Cameron, Lam, Brian Y.H., Sommer, Nadine, Dowsett, Georgina K.C., Martinez de Morentin, Pablo B., Thompson, Dawn, Mackenzie, Alasdair, Chianese, Raffaella, Kentistou, Katherine, Gardner, Eugene J., Perry, John R.B., Grassmann, Felix, Speakman, John R., Rochford, Justin J., Yeo, Giles S.H., Murray, Fiona, and Heisler, Lora K.

Published
2024
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27. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

Author

Mathieson, Iain, Day, Felix R., Barban, Nicola, Tropf, Felix C., Brazel, David M., Vaez, Ahmad, van Zuydam, Natalie, Bitarello, Bárbara D., Gardner, Eugene J., Akimova, Evelina T., Azad, Ajuna, Bergmann, Sven, Bielak, Lawrence F., Boomsma, Dorret I., Bosak, Kristina, Brumat, Marco, Buring, Julie E., Cesarini, David, Chasman, Daniel I., Chavarro, Jorge E., Cocca, Massimiliano, Concas, Maria Pina, Davey Smith, George, Davies, Gail, Deary, Ian J., Esko, Tõnu, Faul, Jessica D., Franco, Oscar, Ganna, Andrea, Gaskins, Audrey J., Gelemanovic, Andrea, de Geus, Eco J. C., Gieger, Christian, Girotto, Giorgia, Gopinath, Bamini, Grabe, Hans Jörgen, Gunderson, Erica P., Hayward, Caroline, He, Chunyan, van Heemst, Diana, Hill, W. David, Hoffmann, Eva R., Homuth, Georg, Hottenga, Jouke Jan, Huang, Hongyang, Hyppӧnen, Elina, Ikram, M. Arfan, Jansen, Rick, Johannesson, Magnus, Kamali, Zoha, Kardia, Sharon L. R., Kavousi, Maryam, Kifley, Annette, Kiiskinen, Tuomo, Kraft, Peter, Kühnel, Brigitte, Langenberg, Claudia, Liew, Gerald, Lind, Penelope A., Luan, Jian’an, Mägi, Reedik, Magnusson, Patrik K. E., Mahajan, Anubha, Martin, Nicholas G., Mbarek, Hamdi, McCarthy, Mark I., McMahon, George, Medland, Sarah E., Meitinger, Thomas, Metspalu, Andres, Mihailov, Evelin, Milani, Lili, Missmer, Stacey A., Mitchell, Paul, Møllegaard, Stine, Mook-Kanamori, Dennis O., Morgan, Anna, van der Most, Peter J., de Mutsert, Renée, Nauck, Matthias, Nolte, Ilja M., Noordam, Raymond, Penninx, Brenda W. J. H., Peters, Annette, Peyser, Patricia A., Polašek, Ozren, Power, Chris, Pribisalic, Ajka, Redmond, Paul, Rich-Edwards, Janet W., Ridker, Paul M., Rietveld, Cornelius A., Ring, Susan M., Rose, Lynda M., Rueedi, Rico, Shukla, Vallari, Smith, Jennifer A., Stankovic, Stasa, Stefánsson, Kári, Stöckl, Doris, Strauch, Konstantin, Swertz, Morris A., Teumer, Alexander, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Turman, Constance, Uitterlinden, André G., Waldenberger, Melanie, Wareham, Nicholas J., Weir, David R., Willemsen, Gonneke, Zhao, Jing Hau, Zhao, Wei, Zhao, Yajie, Snieder, Harold, den Hoed, Marcel, Ong, Ken K., Mills, Melinda C., and Perry, John R. B.

Published
2023
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29. Child physical abuse and COVID-19: Trends from nine pediatric trauma centers

Author

Russell, Katie W, Acker, Shannon N, Ignacio, Romeo C, Lofberg, Katrine M, Garvey, Erin M, Chao, Stephanie D, Bliss, David W, Smith, Caitlin A, Nehra, Deepika, Anderson, Melissa L, Bunnell, Brittney L, Shahi, Niti, Perry, John M, Evans, Lauren L, Kwong, Jacky Z, Tobias, Joseph, Rohan, Autumn, Pickett, Kaci L, Kaar, Jill L, Kastenberg, Zachary J, Laskey, Antoinette L, Scaife, Eric R, and Jensen, Aaron R

Subjects
Violence Research, Clinical Research, Child Abuse and Neglect Research, Physical Injury - Accidents and Adverse Effects, Patient Safety, Childhood Injury, Unintentional Childhood Injury, HIV/AIDS, Prevention, Pediatric, Injuries and accidents, Good Health and Well Being, Adult, COVID-19, Child, Child Abuse, Humans, Pandemics, Physical Abuse, Retrospective Studies, SARS-CoV-2, Trauma Centers, Child abuse, Nonaccidental trauma, Paediatrics and Reproductive Medicine, Pediatrics
Abstract

BackgroundEconomic, social, and psychologic stressors are associated with an increased risk for abusive injuries in children. Prolonged physical proximity between adults and children under conditions of severe external stress, such as witnessed during the COVID-19 pandemic with "shelter-in-place orders", may be associated with additional increased risk for child physical abuse. We hypothesized that child physical abuse rates and associated severity of injury would increase during the early months of the pandemic as compared to the prior benchmark period.MethodsWe conducted a nine-center retrospective review of suspected child physical abuse admissions across the Western Pediatric Surgery Research Consortium. Cases were identified for the period of April 1-June 30, 2020 (COVID-19) and compared to the identical period in 2019. We collected patient demographics, injury characteristics, and outcome data.ResultsThere were no significant differences in child physical abuse cases between the time periods in the consortium as a whole or at individual hospitals. There were no differences between the study periods with regard to patient characteristics, injury types or severity, resource utilization, disposition, or mortality.ConclusionsApparent rates of new injuries related to child physical abuse did not increase early in the COVID-19 pandemic. While this may suggest that pediatric physical abuse was not impacted by pandemic restrictions and stresses, it is possible that under-reporting, under-detection, or delays in presentation of abusive injuries increased during the pandemic. Long-term follow-up of subsequent rates and severity of child abuse is needed to assess for unrecognized injuries that may have occurred.

Published
2022

30. Cosmic ray radiography of a human phantom

Author

Morris, Christopher, Perry, John, and Merrill, F. E.

Subjects
Physics - Medical Physics, Astrophysics - High Energy Astrophysical Phenomena, Astrophysics - Instrumentation and Methods for Astrophysics
Abstract

Cosmic ray muons, that reach the earth's surface, provide a natural source of radiation that is used for radiography. In this paper, we show that radiography using cosmic radiation background provides a method that can be used to monitor bulk aspects of human anatomy. We describe a method that can be used to measure changes in patients as a function of time by radiographing them using cosmic-ray muons. This could provide hourly readouts of parameters such as lung density with sufficient sensitivity to detect time changes in inflammation of the lungs in, e.g., Covid patients.

Published
2021

31. “Even a broken clock is right twice a day”: The case of the Zimbardo Time Perspective Inventory

Author

McKay, Michael T, Worrell, Frank C, Perry, John L, Chishima, Yuta, Zivkovic, Urška, Mello, Zena R, and Cole, Jon C

Subjects
Clinical and Health Psychology, Psychology, Brain Disorders, Psychometrics, Zimbardo Time Perspective Inventory, Autoregressive CFA, Life satisfaction, Cognitive Sciences, Social Psychology, Biological psychology, Social and personality psychology
Abstract

The number of ways in which Zimbardo Time Perspective Inventory (ZTPI) scores are operationalized has increased, and scores have begun to be used in clinical settings. A recent systematic review outlined how one operationalization, the deviation from a balanced time perspective (DBTP), was significantly associated with a range of outcomes. The review called for further investigation into the DBTP approach. Subsequently, a revised DBTP metric, the DBTP-R has been suggested. Using data from British, American, Japanese, and Slovenian samples, we asked several questions in the current study. First, we examined the structural validity of ZTPI scores using both traditional and auto-regressive approaches to see if context affects scoring. Consistent with the extant literature, results revealed serious problems with overall model fit for ZTPI scores. Then, we investigated the relationship between the DBTP and DBTP-R operationalizations of ZTPI scores and scores on a range of criterion variables. Although, broadly speaking, a DBTP score was significantly related to a range of other measures (adjusted for age and sex), results varied by sample and by outcome. DBTP-R models explained slightly more variance than DBTP models, and standardized beta values suggested that DBTP-R scores relate to criterion variables slightly more strongly than DBTP scores.

Published
2022

36. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author

Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques

Published
2023
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