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

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

BMAL1基因的罕见变异与一种神经发育综合征相关。

Cuddapah, Vishnu Anand; Chen, Dechun; Cho, Bumsik; Moore, Rebecca; Suri, Mohnish; Safraou, Hana; Tran-Mau-Them, Frederic; Wilson, Ashley; Odgis, Jacqueline; Rehman, Atteeq U; Saunders, Carol; Ganesan, Shiva; Jobanputra, Vaidehi; Scherer, Stephen W; Helbig, Ingo; Sehgal, Amita

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

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

将临床基因组测序融入门诊肾脏病治疗中以治疗蛋白尿性肾病患者的可行性及实施情况

Marasa, Maddalena; Ahram, Dina F; Rehman, Atteeq U; Mitrotti, Adele; Abhyankar, Avinash; Jain, Namrata G; Weng, Patricia L; Piva, Stacy E; Fernandez, Hilda E; Uy, Natalie S; Chatterjee, Debanjana; Kil, Byum H; Nestor, Jordan G; Felice, Vanessa; Robinson, Dino; Whyte, Dilys; Gharavi, Ali G; Appel, Gerald B; Radhakrishnan, Jai; Santoriello, Dominick; Bomback, Andrew; Lin, Fangming; D'Agati, Vivette D; Jobanputra, Vaidehi; Sanna-Cherchi, Simone

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

利用基因组测序鉴定拷贝数变异:NYCKidSeq 项目的临床经验

Bonini, Katherine E; Thomas-Wilson, Amanda; Marathe, Priya N; Sebastin, Monisha; Odgis, Jacqueline A; Di Biase, Miranda; Kelly, Nicole R; Ramos, Michelle A; Insel, Beverly J; Scarimbolo, Laura; Rehman, Atteeq U; Guha, Saurav; Okur, Volkan; Abhyankar, Avinash; Phadke, Shruti; Nava, Caroline; Gallagher, Katie M; Elkhoury, Lama; Edelmann, Lisa; Zinberg, Randi E; Abul-Husn, Noura S; Diaz, George A; Greally, John M; Suckiel, Sabrina A; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa; Gelb, Bruce D; Jobanputra, Vaidehi

Detection of mosaic variants using genome sequencing in a large pediatric cohort

利用基因组测序在大型儿科队列中检测嵌合变异

Odgis, Jacqueline A; Gallagher, Katie M; Rehman, Atteeq U; Marathe, Priya N; Bonini, Katherine E; Sebastin, Monisha; Di Biase, Miranda; Brown, Kaitlyn; Kelly, Nicole R; Ramos, Michelle A; Thomas-Wilson, Amanda; Guha, Saurav; Okur, Volkan; Ganapathi, Mythily; Elkhoury, Lama; Edelmann, Lisa; Zinberg, Randi E; Abul-Husn, Noura S; Diaz, George A; Greally, John M; Suckiel, Sabrina A; Jobanputra, Vaidehi; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa P; Gelb, Bruce D

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

人类HIST1H4J基因的新生变异会导致一种类似于HIST1H4C相关神经发育障碍的综合征。

Tessadori, Federico; Rehman, Atteeq U; Giltay, Jacques C; Xia, Fan; Streff, Haley; Duran, Karen; Bakkers, Jeroen; Lalani, Seema R; van Haaften, Gijs

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

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Grxcr2 是耳蜗立体纤毛形态发生所必需的

Avenarius Matthew R, Jung Jae-Yun, Askew Charles, Jones Sherri M, Hunker Kristina L, Azaiez Hela, Rehman Atteeq U, Schraders Margit, Najmabadi Hossein, Kremer Hannie, Smith Richard J H, Géléoc Gwenaëlle S G, Dolan David F, Raphael Yehoash, Kohrman David C