日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Printed vs. Digital Patient Information Leaflets-Improving Patient Information Delivery for Enhanced Engagement in Trauma and Orthopaedic Surgery: A Quality Improvement Project

纸质版与电子版患者信息手册——改善创伤和骨科手术患者信息传递,提高患者参与度:一项质量改进项目

George, Jefferson; Poomalai, Indhu; Wildin, Clare

Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening

参与基因组人群健康筛查的初级保健提供者对临床遗传学能力的认知有所提高

Hansen, Christina A; Reiter, Aaron W; Wildin, Robert S

The management of acute complete ruptures of the ulnar collateral ligament of the thumb

拇指尺侧副韧带急性完全断裂的治疗

Mikhail, Mark; Riley, Nicholas; Rodrigues, Jeremy; Carr, Elaine; Horton, Robin; Beale, Nicholas; Beard, David J; Dean, Benjamin J F; Clubb, Lucy; Johnstone, Alan; Lawrie, David; Imam, Mohamed; Joyce, Sarah; Ankarth, Sudhi; Capp, Rachel; Dayananda, Kathryn; Gape, Nick; Trickett, Ryan; Bremner-Smith, Alice; Chan, Carol; Eckersley, Rupert; Horwitz, Maxim; Jatan, Anita; Lumsdaine, William; McArthur, Gordon; Mee, Sarah; Banks, Louisa; Dean, Sally; Dehbozorgi, Sasan; Green, Kate; Meh, Sonu; Fawkes, Francesca; Rooker, Jemma; Bell, Hannah; Vaghela, Kalpesh; Fournier, Katia; Kennedy, Donna; Li, Lily; Srinivasan, Suresh; Gamble, David; Gerakopoulos, Efstratios; Groves, Jordyn; Jackson, Thomas; Karuppaiah, Karthik; Maltby, Amy; Nair, Anjali; Reichert, Ines; Bains, Robert; Mariathas, Chrishan; Reilly, Fiona; Sharpe, Laura; Wildin, Clare; Feeney, Michael; Kulkarni, Avadhut; Sharma, Vikas; Flaherty, Sarah; Gough, Anthony; Hamlin, Katharine; King, Lorraine; Law, Cherry; Johnson, Simon; Svee, Cyndi; Khan, Yasmeen; Rodgers, Sarah; Storey, Phil; Dean, Ben; Sander-Danby, Lizelle; Shields, Karen; Torkington, Matthew; Blackshaw, Rachel; Chaudhry, Tahseen; Jordan, Lisa; Wu, Feiran; Clarke, David; Robinson, Elena; Thumbadoo, Ruben; Parkinson, Miriam; Sharpe, Kevin; Allen, Matt; Poulter, Rob; Currie, Jamie; Stone, Oliver; Cliff, Nicola; Duckworth, Andrew; Cowey, Alex; Crossfield, James; Giddins, Grey; Heath, Robyn; Langdon, Ilana; Mgbemena, Lydia; Mills, Rebecca; Pickering, Greg; Sheriff, Mark; McDonough, Andrew; Naqui, Zaf; Lyons, Nicole; Reay, Emma; Taylor, Tracey; Bates, Michelle; Eastwood, Gillian; McLoughlin-Symon, Iain; Ramesh, Ashwanth; Chan, James; Govilkar, Prashant; Shirley, Rebecca; Upson, Claire; Sajid, Soha; Carr, Elaine; Langley, Claire; Higgins, Joanna; Armstrong, Alexander; Gujral, Sameer; Howe, Aimee; Ip, Mina; Thornsby, Janette; Slade, Robert; Knowles, Laura; Lipscombe, Stephen; Goggins, Theresa; Talwalkar, Sumedh

Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults

300名成年人单基因基因组健康风险和生殖风险联合筛查的真实世界结果

Wildin, Robert S; Gerrard, Diana L; Leonard, Debra G B

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel

利用大型基因测序平台在基层医疗机构实施基因组人群健康筛查

Wildin, Robert S; Giummo, Christine A; Reiter, Aaron W; Peterson, Thomas C; Leonard, Debra G B

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects

药物基因组学临床应用的研究方向:美国项目概览

Volpi, Simona; Bult, Carol J; Chisholm, Rex L; Deverka, Patricia A; Ginsburg, Geoffrey S; Jacob, Howard J; Kasapi, Melpomeni; McLeod, Howard L; Roden, Dan M; Williams, Marc S; Green, Eric D; Rodriguez, Laura Lyman; Aronson, Samuel; Cavallari, Larisa H; Denny, Joshua C; Dressler, Lynn G; Johnson, Julie A; Klein, Teri E; Leeder, J Steven; Piquette-Miller, Micheline; Perera, Minoli; Rasmussen-Torvik, Laura J; Rehm, Heidi L; Ritchie, Marylyn D; Skaar, Todd C; Wagle, Nikhil; Weinshilboum, Richard; Weitzel, Kristin W; Wildin, Robert; Wilson, John; Manolio, Teri A; Relling, Mary V

Identification of novel candidate disease genes from de novo exonic copy number variants

从新生外显子拷贝数变异中鉴定新的候选致病基因

Gambin, Tomasz; Yuan, Bo; Bi, Weimin; Liu, Pengfei; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Pursley, Amber N; Nagamani, Sandesh C S; Marom, Ronit; Golla, Sailaja; Dengle, Lauren; Petrie, Heather G; Matalon, Reuben; Emrick, Lisa; Proud, Monica B; Treadwell-Deering, Diane; Chao, Hsiao-Tuan; Koillinen, Hannele; Brown, Chester; Urraca, Nora; Mostafavi, Roya; Bernes, Saunder; Roeder, Elizabeth R; Nugent, Kimberly M; Bader, Patricia I; Bellus, Gary; Cummings, Michael; Northrup, Hope; Ashfaq, Myla; Westman, Rachel; Wildin, Robert; Beck, Anita E; Immken, LaDonna; Elton, Lindsay; Varghese, Shaun; Buchanan, Edward; Faivre, Laurence; Lefebvre, Mathilde; Schaaf, Christian P; Walkiewicz, Magdalena; Yang, Yaping; Kang, Sung-Hae L; Lalani, Seema R; Bacino, Carlos A; Beaudet, Arthur L; Breman, Amy M; Smith, Janice L; Cheung, Sau Wai; Lupski, James R; Patel, Ankita; Shaw, Chad A; Stankiewicz, Paweł

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

通过临床、基因组和功能分析识别 2p15p16.1 微缺失综合征的候选基因

Hani Bagheri, Chansonette Badduke, Ying Qiao, Rita Colnaghi, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Jiadi Wen, Robert S Wildin, Malgorzata Jm Nowaczyk, Jennifer Eichmeyer, Anna Lehman, Bruno Maranda, Sally Martell, Xianghong Shan, Suzanne Me Lewis, Mark O'Driscoll, Cheryl Y Gregory-Eva

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

在患有骨髓增生异常综合征/急性髓系白血病 (MDS/AML) 或单核细胞增多症 (MonoMAC) 综合征和原发性淋巴水肿的患者中发现的 GATA2 基因功能缺失突变,揭示了 GATA2 在淋巴管系统中发挥的关键作用。

Jan Kazenwadel ,Genevieve A Secker, Yajuan J Liu, Jill A Rosenfeld, Robert S Wildin, Jennifer Cuellar-Rodriguez, Amy P Hsu, Sarah Dyack, Conrad V Fernandez, Chan-Eng Chong, Milena Babic, Peter G Bardy, Akiko Shimamura, Michael Y Zhang, Tom Walsh, Steven M Holland, Dennis D Hickstein, Marshall S Horwitz, Christopher N Hahn, Hamish S Scott, Natasha L Harvey

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

人类精神病理学和肥胖症中,包括脑源性神经营养因子(BDNF)在内的关键区域的高外显率改变

Ernst, Carl; Marshall, Christian R; Shen, Yiping; Metcalfe, Kay; Rosenfeld, Jill; Hodge, Jennelle C; Torres, Alcy; Blumenthal, Ian; Chiang, Colby; Pillalamarri, Vamsee; Crapper, Liam; Diallo, Alpha B; Ruderfer, Douglas; Pereira, Shahrin; Sklar, Pamela; Purcell, Shaun; Wildin, Robert S; Spencer, Anne C; Quade, Bradley F; Harris, David J; Lemyre, Emanuelle; Wu, Bai-Lin; Stavropoulos, Dimitri J; Geraghty, Michael T; Shaffer, Lisa G; Morton, Cynthia C; Scherer, Stephen W; Gusella, James F; Talkowski, Michael E