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

Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue

生殖组织中未发现嵌合型李-弗劳梅尼综合征

Urban, Rhianna M; Kanwar, Nisha; Holdren, Megan A; Hoenig, Megan F; Rust, Laura M; Wick, Myra J; Ferber, Matthew J; Niu, Zhiyv; Gupta, Sounak; Shen, Wei

Optimizing the Synthesis of Deuterated Isotopomers and Isotopologues of Cyclohexene using Molecular Rotational Resonance Spectroscopy

利用分子旋转共振光谱法优化环己烯氘代同位素异构体和同位素类似物的合成

Weatherford-Pratt, Justin T; Smith, Jacob A; Holdren, Martin S; Scolati, Haley N; Sonstrom, Reilly E; Ericson, Megan N; Brewster, Sarah E; Meng, Alvin Q; Dickie, Diane A; Pate, Brooks H; Harman, W Dean

Discovery of the Seven-ring Polycyclic Aromatic Hydrocarbon Cyanocoronene (C(24)H(11)CN) in GOTHAM Observations of TMC-1

在 GOTHAM 对 TMC-1 的观测中发现了七环多环芳烃氰基冠烯 (C(24)H(11)CN)。

Wenzel, Gabi; Gong, Siyuan; Xue, Ci; Changala, P Bryan; Holdren, Martin S; Speak, Thomas H; Stewart, D Archie; Fried, Zachary T P; Willis, Reace H J; Bergin, Edwin A; Burkhardt, Andrew M; Byrne, Alex N; Charnley, Steven B; Lipnicky, Andrew; Loomis, Ryan A; Shingledecker, Christopher N; Cooke, Ilsa R; McCarthy, Michael C; Remijan, Anthony J; Wendlandt, Alison E; McGuire, Brett A

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异注释指南中关于种系PALB2序列变异分析的规范

Richardson, Marcy E; Bishop, Megan F H; Holdren, Megan A; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Brannan, Terra; Young, Colin C; Zec, Lauren; Hiraki, Susan; Turnbull, Clare; Tischkowitz, Marc; Bernstein, Kara A; Masson, Jean-Yves; McNulty, Shannon M; Pesaran, Tina; Monteiro, Alvaro N; Walker, Logan C; Foulkes, William D; Couch, Fergus J

Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing

通过基因组测序增强对癌症易感基因中种系结构变异的检测和表征

Kargaran, Parisa K; Ding, Qiliang; Choate, Lauren A; Sellers, Heidi L; Stein, Mariam I; Moyers, Belle A; Basu, Shubham; Tandale, Pratyush P; Setlem, Rohit; Bishop, Megan F; Holdren, Megan A; Urban, Rhianna M; Gupta, Sounak; Shen, Wei

Designing chemical systems for precision deuteration of medicinal building blocks

设计用于精确氘代药物结构单元的化学体系

Dabbs, Jonathan D; Taylor, Caleb C; Holdren, Martin S; Brewster, Sarah E; Quillin, Brian T; Meng, Alvin Q; Dickie, Diane A; Pate, Brooks H; Harman, W Dean

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

对影响DNA结合域的462个种系BRCA2错义变异进行功能分析和临床分类

Hu, Chunling; Huang, Huaizhi; Na, Jie; Lumby, Carolyn; Abozaid, Mohamed; Holdren, Megan A; Rao, Tara J; Karam, Rachid; Pesaran, Tina; Weyandt, Jamie D; Csuy, Christen M; Seelaus, Christina A; Young, Colin C; Fulk, Kelly; Heidari, Zahra; Morais Lyra, Paulo Cilas Jr; Couch, Ronan E; Persons, Benjamin; Polley, Eric C; Gnanaolivu, Rohan D; Boddicker, Nicholas J; Monteiro, Alvaro N A; Yadav, Siddhartha; Domchek, Susan M; Richardson, Marcy E; Couch, Fergus J

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

ACMG/AMP 变异注释指南中关于种系 ATM 序列变异分析的规范

Richardson, Marcy E; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Young, Colin C; Zec, Lauren; Hiraki, Susan; Anderson, Michael J; Walker, Logan C; McNulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D; Cline, Melissa; Monteiro, Alvaro N; Pesaran, Tina; Couch, Fergus J

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B

By Medical Students, for Medical Students: A Narrative Medicine Antiracism Program

由医学生撰写,面向医学生:叙事医学反种族主义项目

Iwai, Yoshiko; Holdren, Sarah; Browne, Alyssa R; Lenze, Nicholas R; Lopez, Felix Gabriel; Randolph, Antonia M; Weil, Amy B