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

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

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

NR6A1基因变异导致一种新型眼椎肾综合征

Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Ai Rawi, Ranya; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

eyeGENE 家族性渗出性玻璃体视网膜病变患者的基因型-表型谱:Norrin/β-catenin 信号通路基因的新变异

Yaylacioglu Tuncay, Fulya; Reeves, Melissa J; Yousaf, Sairah; Ullah, Ehsan; Guan, Bin; Goetz, Kerry E; Tumminia, Santa J; Hufnagel, Robert B

Coronary heart disease and type 2 diabetes metabolomic signatures in the Middle East

中东地区冠心病和2型糖尿病代谢组学特征

Elshrif, Mohamed; Isufaj, Keivin; El-Menyar, Ayman; Ullah, Ehsan; Beotra, Alka; Al-Maadheed, Mohammed; Mohamed-Ali, Vidya; Saad, Mohamad; Al Suwaidi, Jassim

A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.

斑马鱼 crim1 功能丧失模型的晶状体较小且形状异常,clic4 和 fgf1b 表达失调

Le Tien, Htun Stephanie, Pandey Manoj Kumar, Sun Yihui, Magnusen Albert Frank, Ullah Ehsan, Lauzon Julie, Beres Shannon, Lee Chung, Guan Bin, Hufnagel Robert B, Brooks Brian P, Baranzini Sergio E, Slavotinek Anne

A multi-ancestry genome-wide association study and evaluation of polygenic scores of LDL-C levels

一项多种族群全基因组关联研究及低密度脂蛋白胆固醇水平多基因评分评估

Ismail Umlai, Umm-Kulthum; Toor, Salman M; Al-Sarraj, Yasser A; Mohammed, Shaban; Al Hail, Moza S H; Ullah, Ehsan; Kunji, Khalid; El-Menyar, Ayman; Gomaa, Mohammed; Jayyousi, Amin; Saad, Mohamad; Qureshi, Nadeem; Al Suwaidi, Jassim M; Albagha, Omar M E

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

病例报告:眼部缺损与Rho家族小GTP酶成员CDC42基因中的一种新型错义变异相关

Brightman, Diana; Shinwari, Nawaal; Porollo, Aleksey; Dosunmu, Eniolami O; Ullah, Ehsan; Guan, Bin; Hufnagel, Robert B; Brooks, Brian P; Blain, Delphine; Fuhrmann, Sabine; Simpson, Brittany; Slavotinek, Anne M

Cone Rod Homeobox (CRX): literature review and new insights

锥杆同源盒(CRX):文献综述及新见解

Leigh, Arnold; Swaroop, Anand; Kruczek, Kamil; Ullah, Ehsan; Brooks, Brian P

Employing Consensus-Based Reasoning with Locally Deployed LLMs for Enabling Structured Data Extraction from Surgical Pathology Reports

利用基于共识的推理和本地部署的LLM实现从外科病理报告中提取结构化数据

Tripathi, Aaksh; Waqas, Asim; Venkatesan, Kavya; Ullah, Ehsan; Khan, Asma; Khalil, Farah; Chen, Wei-Shen; Ozturk, Zarifa Gahramanli; Saeed-Vafa, Daryoush; Bui, Marilyn M; Schabath, Matthew B; Rasool, Ghulam

REASONING BEYOND ACCURACY: EXPERT EVALUATION OF LARGE LANGUAGE MODELS IN DIAGNOSTIC PATHOLOGY

超越准确性的推理:诊断病理学中大型语言模型的专家评估

Waqas, Asim; Khan, Asma; Ozturk, Zarifa Gahramanli; Saeed-Vafa, Daryoush; Chen, Weishen; Dhillon, Jasreman; Bychkov, Andrey; Bui, Marilyn M; Ullah, Ehsan; Khalil, Farah; Chumbalkar, Vaibhav; Jameel, Zena; Bittar, Humberto Trejo; Singh, Rajendra S; Parwani, Anil V; Schabath, Matthew B; Rasool, Ghulam