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

554 Implementation of the Abbreviated Burn Specific Pain and Anxiety Scale

554 简版烧伤特异性疼痛和焦虑量表的实施

Fayyazbakhsh, Fateme; Khayat, Michael J; Sadler, Candy; Day, Delbert; Huang, Yue-Wern; Leu, Ming C; Harms, Jonny; Treftz, Morgan; Dispalatro, Paige; Bode, Courtney; Worthington, Hailey

3D-Printed Gelatin-Alginate Hydrogel Dressings for Burn Wound Healing: A Comprehensive Study

用于烧伤创面愈合的3D打印明胶-海藻酸盐水凝胶敷料:一项综合研究

Fayyazbakhsh, Fateme; Khayat, Michael J; Leu, Ming C

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.

ABRF 下一代测序研究中 DNA 测序平台的性能评估

Foox Jonathan, Tighe Scott W, Nicolet Charles M, Zook Justin M, Byrska-Bishop Marta, Clarke Wayne E, Khayat Michael M, Mahmoud Medhat, Laaguiby Phoebe K, Herbert Zachary T, Warner Derek, Grills George S, Jen Jin, Levy Shawn, Xiang Jenny, Alonso Alicia, Zhao Xia, Zhang Wenwei, Teng Fei, Zhao Yonggang, Lu Haorong, Schroth Gary P, Narzisi Giuseppe, Farmerie William, Sedlazeck Fritz J, Baldwin Don A, Mason Christopher E

Exome variant discrepancies due to reference-genome differences

外显子组变异差异是由参考基因组差异引起的。

Li, He; Dawood, Moez; Khayat, Michael M; Farek, Jesse R; Jhangiani, Shalini N; Khan, Ziad M; Mitani, Tadahiro; Coban-Akdemir, Zeynep; Lupski, James R; Venner, Eric; Posey, Jennifer E; Sabo, Aniko; Gibbs, Richard A

Exome sequencing in children with clinically suspected maturity-onset diabetes of the young

对临床疑似青年起病型糖尿病患儿进行外显子组测序

Tosur, Mustafa; Soler-Alfonso, Claudia; Chan, Katie M; Khayat, Michael M; Jhangiani, Shalini N; Meng, Qingchang; Refaey, Ahmad; Muzny, Donna; Gibbs, Richard A; Murdock, David R; Posey, Jennifer E; Balasubramanyam, Ashok; Redondo, Maria J; Sabo, Aniko

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome

Xia-Gibbs综合征中AHDC1致病蛋白截短等位基因相关的表型和蛋白定位异质性

Khayat, Michael M; Li, He; Chander, Varuna; Hu, Jianhong; Hansen, Adam W; Li, Shoudong; Traynelis, Josh; Shen, Hua; Weissenberger, George; Stossi, Fabio; Johnson, Hannah L; Lupski, James R; Posey, Jennifer E; Sabo, Aniko; Meng, Qingchang; Murdock, David R; Wangler, Michael; Gibbs, Richard A

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

一场国际虚拟黑客马拉松,旨在开发用于分析从冠状病毒到脊椎动物等物种内部结构变异的工具。

Mc Cartney, Ann M; Mahmoud, Medhat; Jochum, Michael; Agustinho, Daniel Paiva; Zorman, Barry; Al Khleifat, Ahmad; Dabbaghie, Fawaz; K Kesharwani, Rupesh; Smolka, Moritz; Dawood, Moez; Albin, Dreycey; Aliyev, Elbay; Almabrazi, Hakeem; Arslan, Ahmed; Balaji, Advait; Behera, Sairam; Billingsley, Kimberley; L Cameron, Daniel; Daw, Joyjit; T Dawson, Eric; De Coster, Wouter; Du, Haowei; Dunn, Christopher; Esteban, Rocio; Jolly, Angad; Kalra, Divya; Liao, Chunxiao; Liu, Yunxi; Lu, Tsung-Yu; M Havrilla, James; M Khayat, Michael; Marin, Maximillian; Monlong, Jean; Price, Stephen; Rafael Gener, Alejandro; Ren, Jingwen; Sagayaradj, Sagayamary; Sapoval, Nicolae; Sinner, Claude; C Soto, Daniela; Soylev, Arda; Subramaniyan, Arun; Syed, Najeeb; Tadimeti, Neha; Tater, Pamella; Vats, Pankaj; Vaughn, Justin; Walker, Kimberly; Wang, Gaojianyong; Zeng, Qiandong; Zhang, Shangzhe; Zhao, Tingting; Kille, Bryce; Biederstedt, Evan; Chaisson, Mark; English, Adam; Kronenberg, Zev; J Treangen, Todd; Hefferon, Timothy; Chin, Chen-Shan; Busby, Ben; J Sedlazeck, Fritz

Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases

KIF1A相关显性遗传疾病的表型扩展:新变异的描述和已发表病例的回顾

Montenegro-Garreaud, Ximena; Hansen, Adam W; Khayat, Michael M; Chander, Varuna; Grochowski, Christopher M; Jiang, Yunyun; Li, He; Mitani, Tadahiro; Kessler, Elena; Jayaseelan, Joy; Shen, Hua; Gezdirici, Alper; Pehlivan, Davut; Meng, Qingchang; Rosenfeld, Jill A; Jhangiani, Shalini N; Madan-Khetarpal, Suneeta; Scott, Daryl A; Abarca-Barriga, Hugo; Trubnykova, Milana; Gingras, Marie-Claude; Muzny, Donna M; Posey, Jennifer E; Liu, Pengfei; Lupski, James R; Gibbs, Richard A

A Genocentric Approach to Discovery of Mendelian Disorders

以基因为中心的孟德尔遗传病发现方法

Hansen, Adam W; Murugan, Mullai; Li, He; Khayat, Michael M; Wang, Liwen; Rosenfeld, Jill; Andrews, B Kim; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Sedlazeck, Fritz J; Ashley-Koch, Allison E; Liu, Pengfei; Muzny, Donna M; Davis, Erica E; Katsanis, Nicholas; Sabo, Aniko; Posey, Jennifer E; Yang, Yaping; Wangler, Michael F; Eng, Christine M; Sutton, V Reid; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

成人型夏-吉布斯综合征:一例病例报告及对该疾病自然史的探讨

Murdock, David R; Jiang, Yunyun; Wangler, Michael; Khayat, Michael M; Sabo, Aniko; Juusola, Jane; McWalter, Kirsty; Schatz, Krista Sondergaard; Gunay-Aygun, Meral; Gibbs, Richard A