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

A patient with newly diagnosed breast cancer found to have mosaic TP53 likely pathogenic variant

一名新确诊乳腺癌的患者被发现携带TP53嵌合型可能致病变异。

Mistry, Hetal D; Adams, MacKenzie R; Taneja, Charu; Massingham, Lauren J; Dibble, Elizabeth H; Leonard, Kara L; Hart, Jesse; Lagos, Galina G; Fenton, Mary Anne

Video Education Is an Acceptable Alternative to Pretest Genetic Counseling for Patients With Breast, Ovarian, Pancreatic, and Metastatic Prostate Cancer: Results From a Randomized Study

一项随机研究结果表明,对于乳腺癌、卵巢癌、胰腺癌和转移性前列腺癌患者而言,视频教育是基因检测前咨询的一种可接受的替代方案。

Schneider, Katherine A; Massingham, Lauren; Weitz, Michelle; Phornphutkul, Chanika; Leach, Melissa; Gaonkar, Shraddha; Schwab, Jennifer; Pepprock, Hannah; Husband, Alex; Walsh, Jeanna; Constantine, Michael; Faggen, Meredith; Kozyreva, Olga; Kilbridge, Kerry; Garber, Judy E; Rana, Huma Q

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A

病例报告:与KIF1A运动结构域单等位基因变异相关的遗传性痉挛性截瘫

Sine, Kathryn; Brodie-Mends, David; Chouhani, Wafae; Massingham, Lauren; Alhusaini, Saud

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

由 PPFIA3 罕见变异引起的综合征性神经发育障碍

Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cre

An Innovative Approach to Minimizing Downtime in Continuous Kidney Replacement Therapy

一种减少连续性肾脏替代疗法停机时间的创新方法

Treu, Denny; Ashenuga, Michael; Massingham, Kara; Brugger, James; Medina, Luis; Ficociello, Linda H; Thompson, David

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

PPFIA3基因的罕见变异会导致发育迟缓、智力障碍、自闭症和癫痫。

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Pichon, Jean-Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Pichon, Anne-Sophie Denommé-; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Network, Undiagnosed Diseases; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

基因检测在指导癫痫治疗管理中的应用:一项国际临床实践研究

McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E; Bristow, Sara L; Bonkowsky, Joshua L; Perry, Michael Scott; Berg, Anne T; Borlot, Felippe; Esplin, Edward D; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L; Aradhya, Swaroop; Haldeman-Englert, Chad R; Levy, Rebecca J; Parachuri, Venu G; Lay-Son, Guillermo; de Montellano, David J Dávila-Ortiz; Ramirez-Garcia, Miguel Angel; Benítez Alonso, Edmar O; Ziobro, Julie; Chirita-Emandi, Adela; Felix, Temis M; Kulasa-Luke, Dianne; Megarbane, Andre; Karkare, Shefali; Chagnon, Sarah L; Humberson, Jennifer B; Assaf, Melissa J; Silva, Sebastian; Zarroli, Katherine; Boyarchuk, Oksana; Nelson, Gary R; Palmquist, Rachel; Hammond, Katherine C; Hwang, Sean T; Boutlier, Susan B; Nolan, Melinda; Batley, Kaitlin Y; Chavda, Devraj; Reyes-Silva, Carlos Alberto; Miroshnikov, Oleksandr; Zuccarelli, Britton; Amlie-Wolf, Louise; Wheless, James W; Seinfeld, Syndi; Kanhangad, Manoj; Freeman, Jeremy L; Monroy-Santoyo, Susana; Rodriguez-Vazquez, Natalia; Ryan, Monique M; Machie, Michelle; Guerra, Patricio; Hassan, Muhammad Jawad; Candee, Meghan S; Bupp, Caleb P; Park, Kristen L; Muller, Eric 2nd; Lupo, Pamela; Pedersen, Robert C; Arain, Amir M; Murphy, Andrea; Schatz, Krista; Mu, Weiyi; Kalika, Paige M; Plaza, Lautaro; Kellogg, Marissa A; Lora, Evelyn G; Carson, Robert P; Svystilnyk, Victoria; Venegas, Viviana; Luke, Rebecca R; Jiang, Huiyuan; Stetsenko, Tetiana; Dueñas-Roque, Milagros M; Trasmonte, Joseph; Burke, Rebecca J; Hurst, Anna C E; Smith, Douglas M; Massingham, Lauren J; Pisani, Laura; Costin, Carrie E; Ostrander, Betsy; Filloux, Francis M; Ananth, Amitha L; Mohamed, Ismail S; Nechai, Alla; Dao, Jasmin M; Fahey, Michael C; Aliu, Ermal; Falchek, Stephen; Press, Craig A; Treat, Lauren; Eschbach, Krista; Starks, Angela; Kammeyer, Ryan; Bear, Joshua J; Jacobson, Mona; Chernuha, Veronika; Meibos, Bailey; Wong, Kristen; Sweney, Matthew T; Espinoza, A Chris; Van Orman, Colin B; Weinstock, Arie; Kumar, Ashutosh; Soler-Alfonso, Claudia; Nolan, Danielle A; Raza, Muhammad; Rojas Carrion, Miguel David; Chari, Geetha; Marsh, Eric D; Shiloh-Malawsky, Yael; Parikh, Sumit; Gonzalez-Giraldo, Ernesto; Fulton, Stephen; Sogawa, Yoshimi; Burns, Kaitlyn; Malets, Myroslava; Montiel Blanco, Johnny David; Habela, Christa W; Wilson, Carey A; Guzmán, Guillermo G; Pavliuk, Mariia

Disease Risk and Conservation Implications of Orangutan Translocations

猩猩迁徙的疾病风险及其对保护的影响

Sherman, Julie; Unwin, Steve; Travis, Dominic A; Oram, Felicity; Wich, Serge A; Jaya, Ricko L; Voigt, Maria; Santika, Truly; Massingham, Emily; Seaman, Dave J I; Meijaard, Erik; Ancrenaz, Marc

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

FRRS1L基因的Boricua创始人变异导致伴有运动过度症的癫痫性脑病

Abdelmoumen, Imane; Jimenez, Sandra; Valencia, Ignacio; Melvin, Joseph; Legido, Agustin; Diaz-Diaz, Mayela M; Griffith, Christopher; Massingham, Lauren J; Yelton, Melissa; Rodríguez-Hernández, Janice; Schnur, Rhonda E; Walsh, Laurence E; Cristancho, Ana G; Bergqvist, Christina A; McWalter, Kirsty; Mathieson, Iain; Belbin, Gillian M; Kenny, Eimear E; Ortiz-Gonzalez, Xilma R; Schneider, Michael C

Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model.

芹菜素作为 21 三体综合征的候选产前治疗:对人类羊水细胞和 Ts1Cje 小鼠模型的影响

Guedj Faycal, Siegel Ashley E, Pennings Jeroen L A, Alsebaa Fatimah, Massingham Lauren J, Tantravahi Umadevi, Bianchi Diana W