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

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

KIF5B 中的显性负变异通过下调 mTOR 信号导致成骨不全症

Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, Mary

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

外核苷酸酶 ENTPD1 的双等位基因变异导致复杂的神经发育障碍,伴有智力障碍、明显的白质异常和痉挛性截瘫

Daniel G Calame #, Isabella Herman #, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, V Reid Sutton, Lisa T Emrick, Kym M Boy

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

基于细胞的 CAD 变异分析可识别可能从尿苷疗法中获益的个体

Francisco Del Caño-Ochoa #, Bobby G Ng #, Malak Abedalthagafi, Mohammed Almannai, Ronald D Cohn, Gregory Costain, Orly Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, Pengfei Liu, M Chiara Manzini, Reza Maroofian, Michael Muriello, Ali Al-Otaibi, Hema Patel, Edvardson Shimon, V Reid Sutton, Mehran

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

代谢组学分析和外显子组数据的综合分析有助于序列变异的解读、分类和诊断。

Alaimo, Joseph T; Glinton, Kevin E; Liu, Ning; Xiao, Jing; Yang, Yaping; Reid Sutton, V; Elsea, Sarah H

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

非靶向代谢组学作为诊断戊糖磷酸途径非氧化分支先天性代谢缺陷的客观方法

Brian J Shayota, Taraka R Donti, Jing Xiao, Charul Gijavanekar, Adam D Kennedy, Leroy Hubert, Lance Rodan, Christina Vanderpluym, Catherine Nowak, Hans T Bjornsson, Rebecca Ganetzky, Gerard T Berry, Kirk L Pappan, V Reid Sutton, Qin Sun, Sarah H Elsea

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

旁系同源基因研究促进基因发现:DDX 和 DHX 基因

Ingrid Paine ,Jennifer E Posey ,Christopher M Grochowski ,Shalini N Jhangiani ,Sarah Rosenheck ,Robert Kleyner ,Taylor Marmorale ,Margaret Yoon ,Kai Wang ,Reid Robison ,Gerarda Cappuccio ,Michele Pinelli ,Adriano Magli ,Zeynep Coban Akdemir ,Joannie Hui ,Wai Lan Yeung ,Bibiana K Y Wong ,Lucia Ortega ,Mir Reza Bekheirnia ,Tatjana Bierhals ,Maja Hempel ,Jessika Johannsen ,René Santer ,Dilek Aktas ,Mehmet Alikasifoglu ,Sevcan Bozdogan ,Hatip Aydin ,Ender Karaca ,Yavuz Bayram ,Hadas Ityel ,Michael Dorschner ,Janson J White ,Ekkehard Wilichowski ,Saskia B Wortmann ,Erasmo B Casella ,Joao Paulo Kitajima ,Fernando Kok ,Fabiola Monteiro ,Donna M Muzny ,Michael Bamshad ,Richard A Gibbs ,V Reid Sutton ,Nicola Brunetti-Pierri ,Friedhelm Hildebrandt ,Ariel Brautbar ,Ignatia B Van den Veyver ,Ian Glass ,Davor Lessel ,Gholson J Lyon ,James R Lupski

Asprosin is a centrally acting orexigenic hormone

Asprosin 是一种中枢作用的促进食欲的激素

Clemens Duerrschmid, Yanlin He, Chunmei Wang, Chia Li, Juan C Bournat, Chase Romere, Pradip K Saha, Mark E Lee, Kevin J Phillips, Mahim Jain, Peilin Jia, Zhongming Zhao, Monica Farias, Qi Wu, Dianna M Milewicz, V Reid Sutton, David D Moore, Nancy F Butte, Michael J Krashes, Yong Xu, Atul R Chopra

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"

纤连蛋白基因突变导致一种伴有“角状骨折”的脊椎干骺端发育不良亚型

Chae Syng Lee ,He Fu ,Nissan Baratang ,Justine Rousseau ,Heena Kumra ,V Reid Sutton ,Marcello Niceta ,Andrea Ciolfi ,Guilherme Yamamoto ,Débora Bertola ,Carlo L Marcelis ,Dorien Lugtenberg ,Andrea Bartuli ,Choel Kim ,Julie Hoover-Fong ,Nara Sobreira ,Richard Pauli ,Carlos Bacino ,Deborah Krakow ,Jillian Parboosingh ,Patrick Yap ,Ariana Kariminejad ,Marie T McDonald ,Mariana I Aracena ,Ekkehart Lausch ,Sheila Unger ,Andrea Superti-Furga ,James T Lu ,Marco Tartaglia ,Brendan H Lee ,Dieter P Reinhardt ,Philippe M Campeau

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

利用非靶向生化分析法阐明脑脊液复杂的代谢谱

Kennedy, Adam D; Pappan, Kirk L; Donti, Taraka R; Evans, Anne M; Wulff, Jacob E; Miller, Luke A D; Reid Sutton, V; Sun, Qin; Miller, Marcus J; Elsea, Sarah H

Asprosin, a Fasting-Induced Glucogenic Protein Hormone

Asprosin,一种禁食诱导的生糖蛋白激素

Chase Romere, Clemens Duerrschmid, Juan Bournat, Petra Constable, Mahim Jain, Fan Xia, Pradip K Saha, Maria Del Solar, Bokai Zhu, Brian York, Poonam Sarkar, David A Rendon, M Waleed Gaber, Scott A LeMaire, Joseph S Coselli, Dianna M Milewicz, V Reid Sutton, Nancy F Butte, David D Moore, Atul R Chopr