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

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

显性负性ATP5F1A变异体破坏氧化磷酸化,导致神经系统疾病。

Sara M Fielder ,Marisa W Friederich ,Daniella H Hock ,Jessie R Zhang ,Liana M Valin ,Jill A Rosenfeld ,Kevin T A Booth ,Natasha J Brown ,Rocio Rius ,Tanavi Sharma ,Liana N Semcesen ,Kim C Worley ,Lindsay C Burrage ,Kayla Treat ,Tara Samson ,Sarah Govert ,Sara DaCunha ,Weimin Yuan ,Jian Chen ,Jacob Lesinski ,Hieu Hoang ,Stephanie A Morrison ,Farah A Ladha ,Roxanne A Van Hove ,Cole R Michel ,Richard Reisdorph ,Eric Tycksen ,Dustin Baldridge ,Gary A Silverman ,Claudia Soler-Alfonso ,Erin Conboy ,Francesco Vetrini ,Lisa Emrick ,William J Craigen ,David A Stroud ,Johan L K Van Hove ,Tim Schedl ,Stephen C Pak

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy

乙基丙二酸脑病对限硫饮食的生化和临床反应

Lang, Steven H; Salgado, Andres Caceres; Snyder, Matthew T; Rawls-Castillo, Brandy; Williams, Aaron; Gijavanekar, Charul; Elsea, Sarah H; Wang, Xia; Tessier, Mary Elizabeth M; Soler-Alfonso, Claudia; Scaglia, Fernando

Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare

拉丁美洲遗传学服务:医疗保健中遗传学服务的可及性和利用情况描述性研究

German, Ryan J; Atkinson, Erin; Storch, Eric A; Soler-Alfonso, Claudia; Margarit, Sonia; Lupo, Philip J; Pereira, Stacey

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

IV型肝糖原贮积症的自然史研究及其与Gbe1ys/ys模型的比较

Koch, Rebecca L; Kiely, Bridget T; Choi, Su Jin; Jeck, William R; Flores, Leticia S; Sood, Vikrant; Alam, Seema; Porta, Gilda; LaVecchio, Katy; Soler-Alfonso, Claudia; Kishnani, Priya S

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas

GIVE 项目:利用虚拟基因服务平台减少德克萨斯州服务不足地区的健康不平等现象,并改善基因组医疗服务的可及性。

Vuocolo, Blake; Sierra, Roberta; Brooks, Daniel; Holder, Christopher; Urbanski, Lauren; Rodriguez, Keila; Gamez, Jose David; Mulukutla, Surya Narayan; Hernandez, Ana; Allegre, Alberto; Hidalgo, Humberto; Rodriguez, Sarah; Magallan, Sandy; Gibson, Jeremy; Bernini, Juan Carlos; Watson, Melanie; Nelson, Robert; Mellin-Sanchez, Lizbeth; Garcia, Nancy; Berry, Lori; Dai, Hongzheng; Soler-Alfonso, Claudia; Carter, Kent; Lee, Brendan; Lalani, Seema R

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

TANGO2 缺乏症的自然病程:73 例患者的基线评估

Miyake, Christina Y; Lay, Erica J; Soler-Alfonso, Claudia; Glinton, Kevin E; Houck, Kimberly M; Tosur, Mustafa; Moran, Nancy E; Stephens, Sara B; Scaglia, Fernando; Howard, Taylor S; Kim, Jeffrey J; Pham, Tam Dam; Valdes, Santiago O; Li, Na; Murali, Chaya N; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M; Kannankeril, Prince J; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A; Ehsan, Saad A; Azamian, Mahshid S; Lalani, Seema R

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement

缩短医疗服务不足的西班牙裔人群中罕见遗传病的诊断时间——有效参与的经验教训

Vuocolo, Blake; Sierra, Roberta; Brooks, Dan; Holder, Christopher; Urbanski, Lauren; Rodriguez, Keila; Gamez, Jose David; Mulukutla, Surya Narayan; Berry, Lori; Hernandez, Ana; Allegre, Alberto; Hidalgo, Humberto; Rodriguez, Sarah; Magallan, Sandy; Gibson, Jeremy; Bernini, Juan Carlos; Watson, Melanie; Nelson, Robert; Mellin-Sanchez, Lizbeth; Dai, Hongzheng; Soler-Alfonso, Claudia; Carter, Kent; Lee, Brendan; Lalani, Seema R

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