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

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping

PERADIGM:基于表型嵌入相似性的罕见病基因映射

Zheng, Wangjie; Xie, Yuhan; Gu, Jianlei; Li, Hongyu; Somlo, Stefan; Besse, Whitney; Zhao, Hongyu

Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

推进肾脏疾病基因检测:国家肾脏基金会工作组报告

Franceschini, Nora; Feldman, David L; Berg, Jonathan S; Besse, Whitney; Chang, Alexander R; Dahl, Neera K; Gbadegesin, Rasheed; Pollak, Martin R; Rasouly, Hila Milo; Smith, Richard J H; Winkler, Cheryl A; Gharavi, Ali G

Genetic Analysis of Severe Polycystic Liver Disease in Japan

日本重度多囊肝病的基因分析

Mizuno, Hiroki; Besse, Whitney; Sekine, Akinari; Long, Kelly T; Kurihara, Shigekazu; Oba, Yuki; Yamanouchi, Masayuki; Hasegawa, Eiko; Suwabe, Tatsuya; Sawa, Naoki; Ubara, Yoshifumi; Somlo, Stefan; Hoshino, Junichi

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

KidneyNetwork:利用肾脏来源的基因表达数据预测和优先筛选与肾脏疾病相关的新基因

Boulogne, Floranne; Claus, Laura R; Wiersma, Henry; Oelen, Roy; Schukking, Floor; de Klein, Niek; Li, Shuang; Westra, Harm-Jan; van der Zwaag, Bert; van Reekum, Franka; Sierks, Dana; Schönauer, Ria; Li, Zhigui; Bijlsma, Emilia K; Bos, Willem Jan W; Halbritter, Jan; Knoers, Nine V A M; Besse, Whitney; Deelen, Patrick; Franke, Lude; van Eerde, Albertien M

A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology

肾脏疾病不明病因基因检测实用指南

Aron, Abraham W; Dahl, Neera K; Besse, Whitney

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD

成人双侧肾囊肿和慢性肾病患者的IV型胶原蛋白基因突变

Gulati, Ashima; Sevillano, Angel M; Praga, Manuel; Gutierrez, Eduardo; Alba, Ignacio; Dahl, Neera K; Besse, Whitney; Choi, Jungmin; Somlo, Stefan

Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

GANAB 和 SEC63 基因的大片段缺失解释了 2 例多囊肾和多囊肝病病例。

Wilson, Elena M; Choi, Jungmin; Torres, Vicente E; Somlo, Stefan; Besse, Whitney

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

ALG9基因突变携带者易患肾脏和肝脏囊肿

Besse, Whitney; Chang, Alex R; Luo, Jonathan Z; Triffo, William J; Moore, Bryn S; Gulati, Ashima; Hartzel, Dustin N; Mane, Shrikant; Torres, Vicente E; Somlo, Stefan; Mirshahi, Tooraj

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

GANAB基因中的一个非编码变异解释了一个大家族中孤立性多囊肝病(PCLD)的发生。

Besse, Whitney; Choi, Jungmin; Ahram, Dina; Mane, Shrikant; Sanna-Cherchi, Simone; Torres, Vicente; Somlo, Stefan

Isolated polycystic liver disease genes define effectors of polycystin-1 function

孤立性多囊肝病基因定义了多囊蛋白-1功能的效应因子

Besse, Whitney; Dong, Ke; Choi, Jungmin; Punia, Sohan; Fedeles, Sorin V; Choi, Murim; Gallagher, Anna-Rachel; Huang, Emily B; Gulati, Ashima; Knight, James; Mane, Shrikant; Tahvanainen, Esa; Tahvanainen, Pia; Sanna-Cherchi, Simone; Lifton, Richard P; Watnick, Terry; Pei, York P; Torres, Vicente E; Somlo, Stefan