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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Integrated Single-Cell Profiling Reveals Dichotomous NK Cell Populations Associated with Immunosuppression in Solid Tumors.

整合单细胞分析揭示了与实体瘤免疫抑制相关的二分性NK细胞群。

Lozada John R, Ali Atef, Luo Christine, Plagens Rosemary N, Zhang Bin, Elliott Andrew, Boytim Ella, Zorko Nicholas A, Heath Elisabeth I, Patnaik Akash, VanderWalde Ari M, Antonarakis Emmanuel S, Miller Jeffrey S, Hwang Justin H, Cichocki Frank

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders

与神经发育障碍相关的新生GABBR1和GABBR2变异的功能特征

Stawarski, Michal; Bielopolski, Noa; Roitman, Ilana; Fridman, Karen; Wald-Altman, Shane; Eitel, Megan; Hui, Benedict; Vulto-van Silfhout, Anneke; Stegmann, Alexander P A; Chirita-Emandi, Adela; Eason, Jacqueline; Bradshaw, Kirsty; Darnell, Lewis; Kostrzewa, Grażyna; Ploski, Rafal; Meurs, Romane; Batté, Amandine; Antonarakis, Stylianos E; Gassmann, Martin; Bettler, Bernhard

Comparison of Characteristics and Outcomes of Patients With Metastatic Prostate Cancer With and Without Next-Generation Sequencing Testing

比较接受和未接受二代测序检测的转移性前列腺癌患者的特征和预后

Klugman, Madelyn F; Tsai, Hua-Ling; Iranmanesh, Yasaman; Nwigwe, Ifeoma; Sena, Laura A; Eisenberger, Mario A; Brawley, Otis; Mandl, Adel; Markowski, Mark C; Antonarakis, Emmanuel S; Paller, Channing J; Denmeade, Samuel R; Carducci, Michael A; Canzoniero, Jenna V; Visvanathan, Kala; Marshall, Catherine H

Molecular landscape of prostate cancers with clival metastases

前列腺癌伴斜坡转移的分子图谱

Likasitwatanakul, Pornlada; Blinka, Steven M; Zarka, Jabra G; Gebrael, Georges; Weg, Emily; Longoria, Ossian; Moore, Joseph A; Sharp, Adam; de Bono, Johann; Sternberg, Cora N; Agarwal, Neeraj; Swami, Umang; Orme, Jacob J; Schweizer, Michael T; Sloan, Lindsey; Hwang, Justin H; Antonarakis, Emmanuel S

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis

克鲁宗综合征或阿佩尔综合征患者恒牙缺失的患病率和模式:系统评价和荟萃分析

Becerril Santos, M Cecilia; Ongkosuwito, Edwin M; Papadopoulou, Alexandra K; Antonarakis, Gregory S

The Repercussions of Amyotrophic Lateral Sclerosis on the Orofacial Sphere: A One-Year Prospective Longitudinal Study

肌萎缩侧索硬化症对口面部的影响:一项为期一年的前瞻性纵向研究

Vaudroz, Vincent; Hübers, Annemarie; Kiliaridis, Stavros; Antonarakis, Gregory S

Pathogenic Genomic Alterations in Circulating Tumor DNA Predict Overall Survival in Men with Metastatic Castrate-resistant Prostate Cancer

循环肿瘤DNA中的致病性基因组改变可预测转移性去势抵抗性前列腺癌患者的总生存期

Halabi, Susan; Guo, Siyuan; Luo, Bin; Yu, Chenxi; Knutson, Todd P; Kobilka, Anna; Lyman, Jacqueline; Beltran, Himisha; Antonarakis, Emmanuel S; Galsky, Matthew D; Rosenberg, Jonathan E; Ryan, Charles J; Small, Eric J; Kelly, W Kevin; Morris, Michael J; Page, David; Dehm, Scott M; Armstrong, Andrew J