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

From theory to therapy: unlocking the potential of muscarinic receptor activation in schizophrenia with the dual M1/M4 muscarinic receptor agonist xanomeline and trospium chloride and insights from clinical trials

从理论到治疗:利用双重M1/M4毒蕈碱受体激动剂沙诺美林和托吡氯铵激活毒蕈碱受体治疗精神分裂症的潜力,以及来自临床试验的启示

Meyer, Jonathan M; Kramer, Ken; Vuocolo, Scott; Kaul, Inder; Miller, Andrew C

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha

一名患有综合征且DNA甲基转移酶3α基因存在杂合错义变异的患者,其颈动脉副神经节瘤复发。

German, Ryan J; Vuocolo, Blake; Vossaert, Liesbeth; Saba, Lisa; Fletcher, Robin; Tedder, Matthew L; Sadikovic, Bekim; Kerkhof, Jennifer; Wangler, Michael; Bacino, Carlos A

Late break abstract - 2024

2024 年最新摘要

Vuocolo, Blake; German, Ryan J; Lalani, Seema R; Murali, Chaya N; Bacino, Carlos A; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D; McLean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E; Robak, Laurie; Nagamani, Sandesh C S; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K Jordan; Carter, Kent; Owen, Nichole; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F

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

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

LARP1单倍体不足与一种常染色体显性遗传的神经发育障碍相关。

James Chettle ,Raymond J Louie ,Olivia Larner ,Robert Best ,Kevin Chen ,Josephine Morris ,Zinaida Dedeic ,Anna Childers ,R Curtis Rogers ,Barbara R DuPont ,Cindy Skinner ,Sébastien Küry ,Kevin Uguen ,Marc Planes ,Danielle Monteil ,Megan Li ,Aviva Eliyahu ,Lior Greenbaum ,Nofar Mor ,Thomas Besnard ,Bertrand Isidor ,Benjamin Cogné ,Alyssa Blesson ,Anne Comi ,Ingrid M Wentzensen ,Blake Vuocolo ,Seema R Lalani ,Roberta Sierra ,Lori Berry ,Kent Carter ,Stephan J Sanders ,Sarah P Blagden

Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle"

儿童癌症患者家庭在进行基因组测序后获得护理的经历:“这简直是一场巨大的挑战”

Vuocolo, Blake; Gutierrez, Amanda M; Robinson, Jill O; Recinos, Alva M; Desrosiers, Lauren R; Majumder, Mary A; Bernini, Juan Carlos; Gill, Jonathan; Griffin, Timothy; Tomlinson, Gail E; Vallance, Kelly; McGuire, Amy L; Parsons, D Williams; Plon, Sharon E; Scollon, Sarah

Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

一名患有视网膜营养不良和感音神经性听力损失的患者,其RPGR基因中存在一种新的半合子单核苷酸重复。

German, Ryan J; Vuocolo, Blake; Vossaert, Liesbeth; Owen, Nichole; Lewis, Richard A; Saba, Lisa; Wangler, Michael F; Nagamani, Sandesh

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

针对基因组医学项目中发现的具有医学意义的ATP1A3变异体,为服务不足的人群提供精准治疗

Ford, Cara P; Littlejohn, Rebecca O; German, Ryan; Vuocolo, Blake; Aceves, Jose; Vossaert, Liesbeth; Owen, Nichole; Wangler, Michael; Schmid, Carrie A

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

Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds

绵羊基因组功能注释揭示了促进现代品种进化的近端调控元件

Marina Naval-Sanchez, Quan Nguyen, Sean McWilliam, Laercio R Porto-Neto, Ross Tellam, Tony Vuocolo, Antonio Reverter, Miguel Perez-Enciso, Rudiger Brauning, Shannon Clarke, Alan McCulloch, Wahid Zamani, Saeid Naderi, Hamid Reza Rezaei, Francois Pompanon, Pierre Taberlet, Kim C Worley, Richard A Gibb