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

Patient perspectives of a multidisciplinary Pharmacogenomics clinic

患者对多学科药物基因组学诊所的看法

Maska, Lindy; Donnelly, Roseann S; Kerman, Benjamin J; Cirino, Allison; Fieg, Elizabeth

Post-ictal Psychosis: clinical case presentation and literature review

发作后精神病:临床病例介绍及文献综述

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A; Ramalheira, F; Vasconcelos, M D C; Andrade, M; Pereira, M

Low-frequency inherited complement receptor variants are associated with purpura fulminans.

低频遗传性补体受体变异与暴发性紫癜有关

Bendapudi Pavan K, Nazeen Sumaiya, Ryu Justine, Söylemez Onuralp, Robbins Alissa, Rouaisnel Betty, O'Neil Jillian K, Pokhriyal Ruchika, Yang Moua, Colling Meaghan, Pasko Bryce, Bouzinier Michael, Tomczak Lindsay, Collier Lindsay, Barrios David, Ram Sanjay, Toth-Petroczy Agnes, Krier Joel, Fieg Elizabeth, Dzik Walter H, Hudspeth James C, Pozdnyakova Olga, Nardi Valentina, Knight James, Maas Richard, Sunyaev Shamil, Losman Julie-Aurore

8184 A Case With Primary Hyperparathyroidism Caries A New Variant Of Uncertain Significance (VUS) Of The Multiple Endocrine Neoplasia Type 1 (MEN1) Gene

8184 一例原发性甲状旁腺功能亢进症患者携带多发性内分泌肿瘤1型(MEN1)基因的新变异(VUS),该变异的意义未明。

Sinn, Hans-Peter; Elsawaf, Zeinab; Helmchen, Birgit; Aulmann, Sebastian; Guzelce, E Caliskan; Fieg, E; Pallias, C

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion

由初级保健医生倡导者管理的临床遗传学电子咨询服务的流程和结果

Kerman, Benjamin J; Zawatsky, Carrie B L; Fieg, Elizabeth; Frank, Natasha Y; Donnelly, Roseann S; Green, Robert C; Kennedy, John C; Lakdawala, Neal; Licurse, Adam M; Perez, Emma F; Preys, Charlene L; Krier, Joel B; Rana, Huma Q; Zettler, Bethany; Vassy, Jason L

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases

高维免疫表型分析揭示了未确诊炎症和自身免疫性疾病患者的免疫细胞异常

Mueller, Alisa A; Sasaki, Takanori; Keegan, Joshua W; Nguyen, Jennifer P; Griffith, Alec; Horisberger, Alice M; Licata, Thomas; Fieg, Elizabeth; Cao, Ye; Elahee, Mehreen; Marks, Kathryne E; Simmons, Daimon P; Briere, Lauren C; Cobban, Laurel A; Pallais, J Carl; High, Frances A; Walker, Melissa A; Linnoila, Jenny J; Sparks, Jeffrey A; Holers, V Michael; Costenbader, Karen H; Sweetser, David A; Krier, Joel B; Loscalzo, Joseph; Lederer, James A; Rao, Deepak A

Macrocephaly and developmental delay caused by missense variants in RAB5C

RAB5C基因错义变异导致巨头畸形和发育迟缓

Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; van Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

杂合功能缺失变异显著扩展了与 GDF11 缺失相关的表型

Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine S C; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J

Dark matter interpretation of the Fermi-LAT observations toward the outer halo of M31

费米-LAT对M31星系外晕的观测结果的暗物质解释

Karwin, Christopher M; Murgia, Simona; Moskalenko, Igor V; Fillingham, Sean P; Burns, Anne-Katherine; Fieg, Max

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

KMT2B相关疾病:表型谱的扩展及深部脑刺激的长期疗效

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A