Search Results - "Deng, Alexander"

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Bernkopf, Marie, Abdullah, Ummi B., Bush, Stephen J., Wood, Katherine A., Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J., Thibaut, Loïc M., Williams, Jonathan, Blair, Edward M., Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T., Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A., Johnson, Diana, Jones, Wendy D., Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M., Leitch, Harry G., Morton, Jenny E. V., Németh, Andrea H., Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J., Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W., Wilkie, Andrew O. M., Goriely, Anne

“…Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1–2% is frequently quoted due to the…”
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Digital Fellowships: Inspiring use of contemporary technologies in applied healthcare by Salisbury, Thomas, Deng, Alexander T., Burch, Emily, Godfrey, Alan

“…The adoption of digital technologies in healthcare, accelerated by the COVID-19 pandemic, requires a well-prepared workforce capable of implementing those…”
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Capturing heart valve development with Gene Ontology by Ahmed, Saadullah H., Deng, Alexander T., Huntley, Rachael P., Campbell, Nancy H., Lovering, Ruth C.

“…Introduction: The normal development of all heart valves requires highly coordinated signaling pathways and downstream mediators. While genomic variants can be…”
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction by Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.

“…Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that…”
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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis by Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis

“…Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically…”
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Inherited Endocrine Neoplasia— A Comprehensive Review from Gland to Gene by Deng, Alexander T., Izatt, Louise

“…Purpose of the Review There has been a significant expansion in our knowledge of inherited endocrine neoplasia. This review describes syndromic and…”
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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies by Pagnamenta, Alistair T, Lise, Stefano, Harrison, Victoria, Stewart, Helen, Jayawant, Sandeep, Quaghebeur, Gerardine, Deng, Alexander T, Murphy, Valerie Elizabeth, Sadighi Akha, Elham, Rimmer, Andy, Mathieson, Iain, Knight, Samantha J L, Kini, Usha, Taylor, Jenny C, Keays, David A

“…The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given…”
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Anisotropy-mediated reentrant localization by Deng, Xiaolong, Burin, Alexander, Khaymovich, Ivan

“…We consider a 2d dipolar system, d=2 d = 2 , with the generalized dipole-dipole interaction \sim r^{-a} ∼ r − a , and the power a a controlled experimentally…”
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Foresight—a generative pretrained transformer for modelling of patient timelines using electronic health records: a retrospective modelling study by Kraljevic, Zeljko, Bean, Dan, Shek, Anthony, Bendayan, Rebecca, Hemingway, Harry, Yeung, Joshua Au, Deng, Alexander, Balston, Alfred, Ross, Jack, Idowu, Esther, Teo, James T, Dobson, Richard J B

“…An electronic health record (EHR) holds detailed longitudinal information about a patient's health status and general clinical history, a large portion of…”
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Dynamic Characteristics of Two-Dimensional Structures Slamming Under Free Fall Condition by SUN Zhe, SUI Xupeng, KOROBKIN Alexander, DENG Yanzeng, ZHANG Guiyong, ZONG Zhi, JIANG Yichen

“…The slamming process of two-dimensional structures under free fall condition with arbitrary symmetrical shapes is investigated by combining various analytical…”
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Changeover prediction model for improving handover support in campus area WLAN by Ng, Bryan, Deng, Alexander, Ying Qu, Seah, Winston K. G.

“…A handover in wireless networks is the mechanism to maintain quality of service (QoS) by transferring an ongoing call or data connection from one point of…”
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Foresight -- Generative Pretrained Transformer (GPT) for Modelling of Patient Timelines using EHRs by Kraljevic, Zeljko, Bean, Dan, Shek, Anthony, Bendayan, Rebecca, Hemingway, Harry, Yeung, Joshua Au, Deng, Alexander, Baston, Alfie, Ross, Jack, Idowu, Esther, Teo, James T, Dobson, Richard J

“…Background: Electronic Health Records hold detailed longitudinal information about each patient's health status and general clinical history, a large portion…”
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