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

Expectations for papers performing Mendelian randomization analyses

对进行孟德尔随机化分析的论文的期望

Williams, Scott M; Tang, Hua; Cooper, Gregory M; O'Donnell-Luria, Anne; Girirajan, Santhosh; Dudley, Aimée M; Goriely, Anne; Kutalik, Zoltán; Zhu, Xiaofeng; Sirugo, Giorgio; Epstein, Michael P

Multiomic profiling of transcription factor binding and function in human brain.

人脑中转录因子结合和功能的多组学分析。

Loupe Jacob M, Anderson Ashlyn G, Rizzardi Lindsay F, Rodriguez-Nunez Ivan, Moyers Belle, Trausch-Lowther Katie, Jain Rashmi, Bunney William E, Bunney Blynn G, Cartagena Preston, Sequeira Adolfo, Watson Stanley J, Akil Huda, Cooper Gregory M, Myers Richard M

Active learning of alchemical adsorption simulations; towards a universal adsorption model

主动学习炼金吸附模拟;迈向通用吸附模型

Osaro, Etinosa; Fajardo-Rojas, Fernando; Cooper, Gregory M; Gómez-Gualdrón, Diego; Colón, Yamil J

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

长读长基因组测序和变异重分析提高了神经发育障碍的诊断率

Hiatt, Susan M; Lawlor, James M J; Handley, Lori H; Latner, Donald R; Bonnstetter, Zachary T; Finnila, Candice R; Thompson, Michelle L; Boston, Lori Beth; Williams, Melissa; Nunez, Ivan Rodriguez; Jenkins, Jerry; Kelley, Whitley V; Bebin, E Martina; Lopez, Michael A; Hurst, Anna C E; Korf, Bruce R; Schmutz, Jeremy; Grimwood, Jane; Cooper, Gregory M

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

StarPhase:用于长读长测序数据的综合性相位感知药物基因组学双端测序仪

Holt, James M; Harting, John; Chen, Xiao; Baker, Daniel; Saunders, Christopher T; Kronenberg, Zev; Gonzaludo, Nina; Yoo, Byunggil; Hudjashov, Georgi; Jõeloo, Maarja; Lawlor, James M J; Lim, Weng Khong; Jamuar, Saumya S; Cooper, Gregory M; Milani, Lili; Pastinen, Tomi; Eberle, Michael A

Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity

对可能良性的内含子和同义变异进行生物信息学和剪接分析相结合,揭示了致病性的证据。

Hirschi, Owen R; Felker, Stephanie A; Rednam, Surya P; Vallance, Kelly L; Parsons, D Williams; Roy, Angshumoy; Cooper, Gregory M; Plon, Sharon E

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

27名具有神经发育迟缓表型的个体中,转录共调节因子ZMYM3存在有害的、改变蛋白质的变异

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

毒外显子注释可提高基因组诊断检测中临床相关变异的检出率

Felker, Stephanie A; Lawlor, James M J; Hiatt, Susan M; Thompson, Michelle L; Latner, Donald R; Finnila, Candice R; Bowling, Kevin M; Bonnstetter, Zachary T; Bonini, Katherine E; Kelly, Nicole R; Kelley, Whitley V; Hurst, Anna C E; Rashid, Salman; Kelly, Melissa A; Nakouzi, Ghunwa; Hendon, Laura G; Bebin, E Martina; Kenny, Eimear E; Cooper, Gregory M

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

父母对新生儿重症监护病房基因组测序应用价值的看法

Lemke, Amy A; Thompson, Michelle L; Gimpel, Emily C; McNamara, Katelyn C; Rich, Carla A; Finnila, Candice R; Cochran, Meagan E; Lawlor, James M J; East, Kelly M; Bowling, Kevin M; Latner, Donald R; Hiatt, Susan M; Amaral, Michelle D; Kelley, Whitley V; Greve, Veronica; Gray, David E; Felker, Stephanie A; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E; Hendon, Laura G; Janani, Hillary M; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L; Tuura, Carly; Hughes, Trent; Williams, Heather; Laborde, Kelly; Neu, Matthew B; Patrick-Esteve, Jessica; Hurst, Anna C E; Kirmse, Brian M; Savich, Renate; Spedale, Steven B; Knight, Sara J; Barsh, Gregory S; Korf, Bruce R; Cooper, Gregory M; Brothers, Kyle B

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

将非ACMG推荐的偶然发现的遗传学结果反馈给儿科患者:基因组测序经验中的考量与机遇

Bowling, Kevin M; Thompson, Michelle L; Kelly, Melissa A; Scollon, Sarah; Slavotinek, Anne M; Powell, Bradford C; Kirmse, Brian M; Hendon, Laura G; Brothers, Kyle B; Korf, Bruce R; Cooper, Gregory M; Greally, John M; Hurst, Anna C E