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

CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders

CURE ID:一个用于收集罕见遗传疾病药物再利用真实世界治疗数据的平台

Farid, Tahsin; Ruzhnikov, Maura R Z; Duggal, Mili; Tumas, Keyla C; Strongin, Shira; Sid, Eric; Fuchs, Sarah R; Sacks, Leonard; Pichard, Dominique C; Pilgrim-Grayson, Catherine; Mathé, Ewy A; Stone, Heather A

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana

Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B

NESP55/NESPAS 中的复发性小变异与广泛的 GNAS 甲基化缺陷和 1B 型假性甲状旁腺功能减退症相关

Li, Dong; Jan de Beur, Suzanne; Hou, Cuiping; Ruzhnikov, Maura Rz; Seeley, Hilary; Cutting, Garry R; Sheridan, Molly B; Levine, Michael A

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

早期发病的异染性脑白质营养不良症中,发育迟缓可能先于神经系统退化出现。

Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Émilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L; Bernard, Genevieve; Stutterd, Chloe A; Orchard, Paul; Gupta, Ashish O; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krägeloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry

扩展FOXG1综合征的基因型-表型相关性:来自患者登记研究的结果

Brimble, Elise; Reyes, Kathryn G; Kuhathaas, Kopika; Devinsky, Orrin; Ruzhnikov, Maura R Z; Ortiz-Gonzalez, Xilma R; Scheffer, Ingrid; Bahi-Buisson, Nadia; Olson, Heather

Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report

生酮饮食在患有小头畸形、癫痫和糖尿病综合征的婴儿中的安全应用:病例报告

Zegarra, Walter A; Gallentine, William B; Ruzhnikov, Maura R; McAndrews, Catherine A; Gloyn, Anna L; Addala, Ananta

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

利用超快速纳米孔基因组测序加速致病变异的鉴定

Goenka, Sneha D; Gorzynski, John E; Shafin, Kishwar; Fisk, Dianna G; Pesout, Trevor; Jensen, Tanner D; Monlong, Jean; Chang, Pi-Chuan; Baid, Gunjan; Bernstein, Jonathan A; Christle, Jeffrey W; Dalton, Karen P; Garalde, Daniel R; Grove, Megan E; Guillory, Joseph; Kolesnikov, Alexey; Nattestad, Maria; Ruzhnikov, Maura R Z; Samadi, Mehrzad; Sethia, Ankit; Spiteri, Elizabeth; Wright, Christopher J; Xiong, Katherine; Zhu, Tong; Jain, Miten; Sedlazeck, Fritz J; Carroll, Andrew; Paten, Benedict; Ashley, Euan A

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

CACNA2D1双等位基因功能缺失变异导致早发性发育性癫痫性脑病

Dahimene, Shehrazade; von Elsner, Leonie; Holling, Tess; Mattas, Lauren S; Pickard, Jess; Lessel, Davor; Pilch, Kjara S; Kadurin, Ivan; Pratt, Wendy S; Zhulin, Igor B; Dai, Hongzheng; Hempel, Maja; Ruzhnikov, Maura R Z; Kutsche, Kerstin; Dolphin, Annette C

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

Identification of protein quality control regulators using a Drosophila model of TPI deficiency

使用果蝇 TPI 缺乏模型鉴定蛋白质质量控制调节剂

Stacy L Hrizo, Samantha L Eicher, Tracey D Myers, Ian McGrath, Andrew P K Wodrich, Hemanth Venkatesh, Daniel Manjooran, Sabrina Swoger, Kim Gagnon, Matthew Bruskin, Maria V Lebedev, Sherry Zheng, Ana Vitantonio, Sungyoun Kim, Zachary J Lamb, Andreas Vogt, Maura R Z Ruzhnikov, Michael J Palladino