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

Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation

对一名出现进行性虚弱、疼痛和睡眠障碍的患者的UQCRC1变异体进行表征,揭示了一种功能性线粒体缺陷,该缺陷可通过线粒体移植得到修复。

Piroli, Gerardo G; Myers, Rebecca; Holloway, Lynda; Hayek, Andrew; Linebaugh, Ellen; Jones, Julie R; Skinner, Cindy; Skinner, Steven A; Frizzell, Norma; Steet, Richard

A novel idiopathic transient tubulopathy associated with exercise-induced-seizures: A case report

一种与运动诱发癫痫相关的特发性短暂性肾小管病:病例报告

Ramos-Zaldívar, Héctor M; Domínguez, Eduardo Smelin Perdomo; Monterroso-Reyes, Joselin Michelle; Caballero, Astrid Yohaly Rivera; Jones, Julie R; Salas-Huenuleo, Edison; Villarroel, María Fernanda Hernández; Villarroel-Espíndola, Franz; Silva-Jiménez, Sashenka; Santa Cruz-Flores, Rodrigo E; Jeria, Cristobal Andrés Padilla; Urriola, Catalina Raquel González; Fierro, Martín P

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

Derivation of CD8+ T cell infiltration potentiators in non-small-cell lung cancer through tumor microenvironment analysis

通过肿瘤微环境分析推导非小细胞肺癌中的 CD8+ T 细胞浸润增强剂

Michael J Topper, Valsamo Anagnostou, Kristen A Marrone, Victor E Velculescu, Peter A Jones, Julie R Brahmer, Stephen B Baylin, Galen H Hostetter

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.

通过全基因组测序检测到的 LAMA2 基因内含子变异的 RNA 分析证实了一种罕见的色素失禁症与肢带型肌营养不良症的双重诊断

Washington Camerun, Stolerman Elliot S, Cooley-Coleman Jessica A, Jones Julie R, Chen-Deutsch Xiangwen

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

GPAA1基因双等位基因变异导致GPI锚定缺陷表型谱的扩大

Castle, Alison M R; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin C; Heron, Delphine; Keren, Boris; Johnstone, Devon L; Mears, Wendy; Morlot, Susanne; Nguyen, Thi Tuyet Mai; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William Boyce; Jones, Julie R; Serpieri, Valentina; Wallaschek, Hannah; Zanni, Ginevra; Dyment, David A; Campeau, Philippe M

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

BAZ2B单倍体不足是发育迟缓、智力障碍和自闭症谱系障碍的病因之一

Scott, Tiana M; Guo, Hui; Eichler, Evan E; Rosenfeld, Jill A; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A; Streff, Haley; Lewis, Andrea M; Koenig, Mary K; Thiffault, Isabelle; Bellomo, Allison; Everman, David B; Jones, Julie R; Stevenson, Roger E; Bernier, Raphael; Gilissen, Christian; Pfundt, Rolph; Hiatt, Susan M; Cooper, Gregory M; Holder, Jimmy L; Scott, Daryl A

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Xq22缺失与女性特定神经系统疾病特征的相关性:邻近基因综合征的进一步证据

Hijazi, Hadia; Coelho, Fernanda S; Gonzaga-Jauregui, Claudia; Bernardini, Laura; Mar, Soe S; Manning, Melanie A; Hanson-Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A; Jones, Julie R; Friez, Michael J; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; Song, Xiaofei; Davis-Williams, Angelique; Jornlin, Carly; Wight, Patricia A; Patyal, Pankaj; Taube, Jennifer; Poretti, Andrea; Inoue, Ken; Zhang, Feng; Pehlivan, Davut; Carvalho, Claudia M B; Hobson, Grace M; Lupski, James R

Redefining the Etiologic Landscape of Cerebellar Malformations

重新定义小脑畸形的病因学格局

Aldinger, Kimberly A; Timms, Andrew E; Thomson, Zachary; Mirzaa, Ghayda M; Bennett, James T; Rosenberg, Alexander B; Roco, Charles M; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi V; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M; Alkuraya, Fowzan S; Biesecker, Leslie G; Braddock, Stephen R; Cathey, Sara; Cho, Megan T; Chung, Brian H Y; Everman, David B; Zarate, Yuri A; Jones, Julie R; Schwartz, Charles E; Goldstein, Amy; Hopkin, Robert J; Krantz, Ian D; Ladda, Roger L; Leppig, Kathleen A; McGillivray, Barbara C; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G; Nickerson, Deborah A; Bamshad, Michael J; Gerrelli, Dianne; Lisgo, Steven N; Seelig, Georg; Ishak, Gisele E; Barkovich, A James; Curry, Cynthia J; Glass, Ian A; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

GRIN2B脑病:表型、变异聚集、功能后果和治疗方面的新发现

Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Di Donato, Nataliya; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R