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

A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia

一种无X连锁低磷血症临床特征的新生有害PHEX变异

Kayser, Michelle; Jain, Preti; Bale, Allen; Carpenter, Thomas O

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

新生儿因剪接变异导致的D-双功能蛋白缺乏症,伴有严重的过氧化物酶体功能障碍和持续性低血糖

Werner, Kelly M; Cox, Allison J; Qian, Emily; Jain, Preti; Ji, Weizhen; Tikhonova, Irina; Castaldi, Christopher; Bilguvar, Kaya; Knight, James; Ferdinandusse, Sacha; Fawaz, Rima; Jiang, Yong-Hui; Gallagher, Patrick G; Bizzarro, Matthew; Gruen, Jeffrey R; Bale, Allen; Zhang, Hui

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

STXBP3 的变异与极早期发病的炎症性肠病、双侧感觉神经性听力损失和免疫失调有关

Ouahed Jodie, Kelsen Judith R, Spessott Waldo A, Kooshesh Kameron, Sanmillan Maria L, Dawany Noor, Sullivan Kathleen E, Hamilton Kathryn E, Slowik Voytek, Nejentsev Sergey, Neves João Farela, Flores Helena, Chung Wendy K, Wilson Ashley, Anyane-Yeboa Kwame, Wou Karen, Jain Preti, Field Michael, Tollefson Sophia, Dent Maiah H, Li Dalin, Naito Takeo, McGovern Dermot P B, Kwong Andrew C, Taliaferro Faith, Ordovas-Montanes Jose, Horwitz Bruce H, Kotlarz Daniel, Klein Christoph, Evans Jonathan, Dorsey Jill, Warner Neil, Elkadri Abdul, Muise Aleixo M, Goldsmith Jeffrey, Thompson Benjamin, Engelhardt Karin R, Cant Andrew J, Hambleton Sophie, Barclay Andrew, Toth-Petroczy Agnes, Vuzman Dana, Carmichael Nikkola, Bodea Corneliu, Cassa Christopher A, Devoto Marcella, Maas Richard L, Behrens Edward M, Giraudo Claudio G, Snapper Scott B

Whole-Exome Sequencing in Familial Parkinson Disease

家族性帕金森病的全外显子组测序

Farlow, Janice L; Robak, Laurie A; Hetrick, Kurt; Bowling, Kevin; Boerwinkle, Eric; Coban-Akdemir, Zeynep H; Gambin, Tomasz; Gibbs, Richard A; Gu, Shen; Jain, Preti; Jankovic, Joseph; Jhangiani, Shalini; Kaw, Kaveeta; Lai, Dongbing; Lin, Hai; Ling, Hua; Liu, Yunlong; Lupski, James R; Muzny, Donna; Porter, Paula; Pugh, Elizabeth; White, Janson; Doheny, Kimberly; Myers, Richard M; Shulman, Joshua M; Foroud, Tatiana

The genetic landscape of dural marginal zone lymphomas.

硬脑膜边缘区淋巴瘤的遗传图谱

Ganapathi Karthik A, Jobanputra Vaidehi, Iwamoto Fabio, Jain Preti, Chen Jinli, Cascione Luciano, Nahum Odelia, Levy Brynn, Xie Yi, Khattar Pallavi, Hoehn Daniela, Bertoni Francesco, Murty Vundavalli V, Pittaluga Stefania, Jaffe Elaine S, Alobeid Bachir, Mansukhani Mahesh M, Bhagat Govind

Architecture of the human regulatory network derived from ENCODE data

基于ENCODE数据的人类调控网络架构

Gerstein, Mark B; Kundaje, Anshul; Hariharan, Manoj; Landt, Stephen G; Yan, Koon-Kiu; Cheng, Chao; Mu, Xinmeng Jasmine; Khurana, Ekta; Rozowsky, Joel; Alexander, Roger; Min, Renqiang; Alves, Pedro; Abyzov, Alexej; Addleman, Nick; Bhardwaj, Nitin; Boyle, Alan P; Cayting, Philip; Charos, Alexandra; Chen, David Z; Cheng, Yong; Clarke, Declan; Eastman, Catharine; Euskirchen, Ghia; Frietze, Seth; Fu, Yao; Gertz, Jason; Grubert, Fabian; Harmanci, Arif; Jain, Preti; Kasowski, Maya; Lacroute, Phil; Leng, Jing Jane; Lian, Jin; Monahan, Hannah; O'Geen, Henriette; Ouyang, Zhengqing; Partridge, E Christopher; Patacsil, Dorrelyn; Pauli, Florencia; Raha, Debasish; Ramirez, Lucia; Reddy, Timothy E; Reed, Brian; Shi, Minyi; Slifer, Teri; Wang, Jing; Wu, Linfeng; Yang, Xinqiong; Yip, Kevin Y; Zilberman-Schapira, Gili; Batzoglou, Serafim; Sidow, Arend; Farnham, Peggy J; Myers, Richard M; Weissman, Sherman M; Snyder, Michael