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

Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.

Taperin 将 F-肌动蛋白束固定在立体纤毛的枢轴点,从而实现最佳的终生机械敏感性

Belyantseva Inna A, Liu Chang, Dragich Abigail K, Miyoshi Takushi, Inagaki Sayaka, Imtiaz Ayesha, Tona Risa, Zuluaga-Osorio Karen Sofia, Hadi Shadan, Wilson Elizabeth, Morozko Eva, Olszewski Rafal, Yousaf Rizwan, Sokolova Yuliya, Riordan Gavin P, Aston S Andrew, Rehman Atteeq U, Fenollar Ferrer Cristina, Wisniewski Jan, Gu Shoujun, Nayak Gowri, Goodyear Richard J, Li Jinan, Krey Jocelyn F, Wafa Talah, Faridi Rabia, Adadey Samuel Mawuli, Drummond Meghan, Perrin Benjamin, Winkler Dennis C, Starost Matthew F, Cheng Hui, Fitzgerald Tracy, Richardson Guy P, Dong Lijin, Barr-Gillespie Peter G, Hoa Michael, Frolenkov Gregory I, Friedman Thomas B, Zhao Bo

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

ClinGen对听力损失相关基因的重新整理表明,随着时间的推移,基因-疾病有效性发生了显著变化。

Tshering, Kezang C; DiStefano, Marina T; Oza, Andrea M; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin T A; Buonfiglio, Paula I; Charfeddine, Cherine; Dalamón, Viviana; Castillo, Ignacio Del; Moreno-Pelayo, Miguel Angel; Duzkale, Hatice; Dorshorst, Ben; Faridi, Rabia; Kenna, Margaret; Lewis, Morag A; Luo, Minjie; Lu, Yu; Mkaouar, Rahma; Matsunaga, Tatsuo; Nara, Kiyomitsu; Pandya, Arti; Redfield, Shelby; Roux, Isabelle; Schimmenti, Lisa A; Schrauwen, Isabelle; Shaaban, Sherin; Shen, Jun; Vona, Barbara; Smith, Richard J; Rehm, Heidi L; Azaiez, Hela; Abou Tayoun, Ahmad N; Amr, Sami S

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice

与人类MAP3K1隐性变异相关的耳聋DFNB128重现了MAP3K1缺陷小鼠的听力损失。

Faridi, Rabia; Yousaf, Rizwan; Inagaki, Sayaka; Olszewski, Rafal; Gu, Shoujun; Morell, Robert J; Wilson, Elizabeth; Xia, Ying; Qaiser, Tanveer Ahmed; Rashid, Muhammad; Fenollar-Ferrer, Cristina; Hoa, Michael; Riazuddin, Sheikh; Friedman, Thomas B

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

与严重佩罗综合征相关的CLPP纯合新型截断变异体

Faridi, Rabia; Stratton, Pamela; Salmeri, Noemi; Morell, Robert J; Khan, Asma Ali; Usmani, Muhammad A; Newman, William G; Riazuddin, Sheikh; Friedman, Thomas B

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy

LRP2基因的变体编码一种多功能细胞表面内吞受体,与听力损失和视网膜营养不良有关。

Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A; Morell, Robert J; Tsilou, Ekaterini; Noyes, Amanda G; Sulmonte, Laura A G; Wonkam, Ambroise; Schrauwen, Isabelle; Leal, Suzanne M; Azaiez, Hela; Brewer, Carmen C; Riazuddin, Sheikh; Hufnagel, Robert B; Hoa, Michael; Zein, Wadih M; de Dios, J Karl; Friedman, Thomas B

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

尼日利亚约鲁巴族儿童听力损失的基因组分析

Adeyemo, Adebolajo; Faridi, Rabia; Chattaraj, Parna; Yousaf, Rizwan; Tona, Risa; Okorie, Samuel; Bharadwaj, Thashi; Nouel-Saied, Liz M; Acharya, Anushree; Schrauwen, Isabelle; Morell, Robert J; Leal, Suzanne M; Friedman, Thomas B; Griffith, Andrew J; Roux, Isabelle

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

对佩罗综合征(一种临床和遗传异质性疾病)的新认识

Faridi, Rabia; Rea, Alessandro; Fenollar-Ferrer, Cristina; O'Keefe, Raymond T; Gu, Shoujun; Munir, Zunaira; Khan, Asma Ali; Riazuddin, Sheikh; Hoa, Michael; Naz, Sadaf; Newman, William G; Friedman, Thomas B

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

巴基斯坦近亲结婚家庭通过分离听力损失病例,为全球遗传学研究提供了重要见解。

Richard, Elodie M; Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J; Nickerson, Deborah A; Schrauwen, Isabelle; Khan, Shaheen N; Morell, Robert J; Zafar, Saba; Ansar, Muhammad; Ahmed, Zubair M; Ahmad, Wasim; Riazuddin, Sheikh; Friedman, Thomas B; Leal, Suzanne M; Riazuddin, Saima

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Jervell综合征、Lange-Nielsen综合征和Romano-Ward综合征中KCNE1缺陷的突变和表型谱

Faridi, Rabia; Tona, Risa; Brofferio, Alessandra; Hoa, Michael; Olszewski, Rafal; Schrauwen, Isabelle; Assir, Muhammad Z K; Bandesha, Akhtar A; Khan, Asma A; Rehman, Atteeq U; Brewer, Carmen; Ahmed, Wasim; Leal, Suzanne M; Riazuddin, Sheikh; Boyden, Steven E; Friedman, Thomas B

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

由S1PR2基因内罕见错义变异引起的常染色体隐性遗传性听力障碍

Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U; Lee, Kwanghyuk; Ansar, Muhammad; Wang, Xin; Morell, Robert J; Isaacson, Rivka; Belyantseva, Inna A; Dai, Hang; Acharya, Anushree; Qaiser, Tanveer A; Muhammad, Dost; Ali, Rana Amjad; Shams, Sulaiman; Hassan, Muhammad Jawad; Shahzad, Shaheen; Raza, Syed Irfan; Bashir, Zil-E-Huma; Smith, Joshua D; Nickerson, Deborah A; Bamshad, Michael J; Riazuddin, Sheikh; Ahmad, Wasim; Friedman, Thomas B; Leal, Suzanne M