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

Low-frequency inherited complement receptor variants are associated with purpura fulminans.

低频遗传性补体受体变异与暴发性紫癜有关

Bendapudi Pavan K, Nazeen Sumaiya, Ryu Justine, Söylemez Onuralp, Robbins Alissa, Rouaisnel Betty, O'Neil Jillian K, Pokhriyal Ruchika, Yang Moua, Colling Meaghan, Pasko Bryce, Bouzinier Michael, Tomczak Lindsay, Collier Lindsay, Barrios David, Ram Sanjay, Toth-Petroczy Agnes, Krier Joel, Fieg Elizabeth, Dzik Walter H, Hudspeth James C, Pozdnyakova Olga, Nardi Valentina, Knight James, Maas Richard, Sunyaev Shamil, Losman Julie-Aurore

Piezo mechanosensory channels regulate centrosome integrity and mitotic entry

压电机械感觉通道调节中心体完整性和有丝分裂起始。

David, Liron; Martinez, Laurel; Xi, Qiongchao; Kooshesh, Kameron A; Zhang, Ying; Shah, Jagesh V; Maas, Richard L; Wu, Hao

ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration

ALX1相关性额鼻发育不良是由神经嵴细胞发育和迁移缺陷引起的。

Pini, Jonathan; Kueper, Janina; Hu, Yiyuan David; Kawasaki, Kenta; Yeung, Pan; Tsimbal, Casey; Yoon, Baul; Carmichael, Nikkola; Maas, Richard L; Cotney, Justin; Grinblat, Yevgenya; Liao, Eric C

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

STXBP3 的变异与极早期发病的炎症性肠病、双侧感觉神经性听力损失和免疫失调有关

Ouahed Jodie, Kelsen Judith R, Spessott Waldo A, Kooshesh Kameron, Sanmillan Maria L, Dawany Noor, Sullivan Kathleen E, Hamilton Kathryn E, Slowik Voytek, Nejentsev Sergey, Neves João Farela, Flores Helena, Chung Wendy K, Wilson Ashley, Anyane-Yeboa Kwame, Wou Karen, Jain Preti, Field Michael, Tollefson Sophia, Dent Maiah H, Li Dalin, Naito Takeo, McGovern Dermot P B, Kwong Andrew C, Taliaferro Faith, Ordovas-Montanes Jose, Horwitz Bruce H, Kotlarz Daniel, Klein Christoph, Evans Jonathan, Dorsey Jill, Warner Neil, Elkadri Abdul, Muise Aleixo M, Goldsmith Jeffrey, Thompson Benjamin, Engelhardt Karin R, Cant Andrew J, Hambleton Sophie, Barclay Andrew, Toth-Petroczy Agnes, Vuzman Dana, Carmichael Nikkola, Bodea Corneliu, Cassa Christopher A, Devoto Marcella, Maas Richard L, Behrens Edward M, Giraudo Claudio G, Snapper Scott B

FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research

FaceBase 3:用于颅面和牙科研究的分析工具和 FAIR 资源

Samuels, Bridget D; Aho, Robert; Brinkley, James F; Bugacov, Alejandro; Feingold, Eleanor; Fisher, Shannon; Gonzalez-Reiche, Ana S; Hacia, Joseph G; Hallgrimsson, Benedikt; Hansen, Karissa; Harris, Matthew P; Ho, Thach-Vu; Holmes, Greg; Hooper, Joan E; Jabs, Ethylin Wang; Jones, Kenneth L; Kesselman, Carl; Klein, Ophir D; Leslie, Elizabeth J; Li, Hong; Liao, Eric C; Long, Hannah; Lu, Na; Maas, Richard L; Marazita, Mary L; Mohammed, Jaaved; Prescott, Sara; Schuler, Robert; Selleri, Licia; Spritz, Richard A; Swigut, Tomek; van Bakel, Harm; Visel, Axel; Welsh, Ian; Williams, Cristina; Williams, Trevor J; Wysocka, Joanna; Yuan, Yuan; Chai, Yang

GENE-54. INVESTIGATING THE ROLES OF NCOR1 AND NCOR2 IN METASTATIC INVASION INTO THE SPINE

基因-54. 研究NCOR1和NCOR2在脊柱转移侵袭中的作用

Lachke, Salil A; Ho, Joshua W K; Kryukov, Gregory V; O'Connell, Daniel J; Aboukhalil, Anton; Bulyk, Martha L; Park, Peter J; Maas, Richard L; Sultan, Zain; Rocco, Sabrina; Szerlip, Nicholas; Calinescu, Alexandra

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

一项整合临床项目和众包策略,用于基因组测序和孟德尔遗传病基因发现

Haghighi, Alireza; Krier, Joel B; Toth-Petroczy, Agnes; Cassa, Christopher A; Frank, Natasha Y; Carmichael, Nikkola; Fieg, Elizabeth; Bjonnes, Andrew; Mohanty, Anwoy; Briere, Lauren C; Lincoln, Sharyn; Lucia, Stephanie; Gupta, Vandana A; Söylemez, Onuralp; Sutti, Sheila; Kooshesh, Kameron; Qiu, Haiyan; Fay, Christopher J; Perroni, Victoria; Valerius, Jamie; Hanna, Meredith; Frank, Alexander; Ouahed, Jodie; Snapper, Scott B; Pantazi, Angeliki; Chopra, Sameer S; Leshchiner, Ignaty; Stitziel, Nathan O; Feldweg, Anna; Mannstadt, Michael; Loscalzo, Joseph; Sweetser, David A; Liao, Eric; Stoler, Joan M; Nowak, Catherine B; Sanchez-Lara, Pedro A; Klein, Ophir D; Perry, Hazel; Patsopoulos, Nikolaos A; Raychaudhuri, Soumya; Goessling, Wolfram; Green, Robert C; Seidman, Christine E; MacRae, Calum A; Sunyaev, Shamil R; Maas, Richard L; Vuzman, Dana

Bio-inspired solute enables preservation of human oocytes using minimum volume vitrification

仿生溶质可实现以最小体积玻璃化冷冻法保存人类卵母细胞

Choi, Jung Kyu; El Assal, Rami; Ng, Nicholas; Ginsburg, Elizabeth; Maas, Richard L; Anchan, Raymond M; Demirci, Utkan

Resolving stem and progenitor cells in the adult mouse incisor through gene co-expression analysis

通过基因共表达分析解析成年小鼠门牙中的干细胞和祖细胞

Seidel, Kerstin; Marangoni, Pauline; Tang, Cynthia; Houshmand, Bahar; Du, Wen; Maas, Richard L; Murray, Steven; Oldham, Michael C; Klein, Ophir D

The FaceBase Consortium: a comprehensive resource for craniofacial researchers

FaceBase联盟:颅面研究人员的综合资源

Brinkley, James F; Fisher, Shannon; Harris, Matthew P; Holmes, Greg; Hooper, Joan E; Jabs, Ethylin Wang; Jones, Kenneth L; Kesselman, Carl; Klein, Ophir D; Maas, Richard L; Marazita, Mary L; Selleri, Licia; Spritz, Richard A; van Bakel, Harm; Visel, Axel; Williams, Trevor J; Wysocka, Joanna; Chai, Yang