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L

Laryssa A. Huryn

NIH
H指数:23
被引数:1,412

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Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state

间充质漂移在纤毛病iPSC来源的RPE中揭示了一种趋同的致病细胞状态

Cell Reports
IF6.9
2026-08-280
OA
Dominik Reichert; Sena Gul; Davide Ortolan; David McGaughey; Jair Montford; Jiwon Ryu; Alyssa S. Jeffrey; Colby F. Lewallen; Kati Veres; Rafael Villasmil; Noor D. White Carreiro; Stephen H. Tsang; Laryssa A. Huryn; Brian P. Brooks; Wadih Zein; Helen Louise May-Simera; Ruchi Sharma; Kapil Bharti
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

游离唾液酸贮积症的临床与遗传学特征

Journal of Inherited Metabolic Disease
IF3.8
2026-03-250
OAAI
Wolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F.; Sabaii, Marla; Huryn, Laryssa A.; Zein, Wadih M.; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H.; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C.; Gahl, William A.; Adams, David R.; Wolfe, Lynne
Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells
NUCLEIC ACID THERAPEUTICS
IF4.7
2024-10-011
PRE
Venkatesh, Aditya; McKenty, Taylor; Ali, Syed; Sonntag, Donna; Ravipaty, Shobha; Cui, Yanyan; Slate, Deirdre; Lin, Qian; Christiansen, Anne; Jacobson, Sarah; Kach, Jacob; Lim, Kian Huat; Srinivasan, Vaishnavi; Zinshteyn, Boris; Aznarez, Isabel; Huryn, Laryssa A.; Li, Zhiyu; Hufnagel, Robert B.; Liau, Gene; Anderson, Karen; Hoger, Jeff
Ocular findings in Jansen metaphyseal chondrodysplasia
JBMR PLUS
IF2.4
2024-07-122
OA
Obiezu, Fiona; Costa, M. Teresa Magone De Quadros; Huryn, Laryssa A.; Pan, Kristen; Almpani, Konstantinia; Ninan, Anisha; Roszko, Kelly L.; Weinstein, Lee S.; Gafni, Rachel, I; Ferreira, Carlos R.; Lee, Janice; Collins, Michael T.; Jha, Smita
GM1 gangliosidosis type II: Results of a 10-year prospective study
GENETICS IN MEDICINE
IF6.2
2024-07-012
OAAI
D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M.; Han, Sangwoo T.; Adams, David; Hartman, Adam L.; Zein, Wadih; Huryn, Laryssa A.; Solomon, Beth; King, Kelly; Jordan, Christopher P.; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E.; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S.; Brooks, Brian P.; Acosta, Maria T.; Baker, Eva H.; Vezina, Gilbert; Thurm, Audrey; Tifft, Cynthia J.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
BRAIN
IF11.7
2024-05-130
OA
Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B.
Intrathecal Gene Therapy for Giant Axonal Neuropathy
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-03-219
PRE
Bharucha-Goebel, Diana X.; Todd, Joshua J.; Saade, Dimah; Norato, Gina; Jain, Minal; Lehky, Tanya; Bailey, Rachel M.; Chichester, Jessica A.; Calcedo, Roberto; Armao, Diane; Foley, A. Reghan; Mohassel, Payam; Tesfaye, Eshetu; Carlin, Bradley P.; Seremula, Beth; Waite, Melissa; Zein, Wadih M.; Huryn, Laryssa A.; Crawford, Thomas O.; Sumner, Charlotte J.; Hoke, Ahmet; Heiss, John D.; Charnas, Lawrence; Hooper, Jody E.; Bouldin, Thomas W.; Kang, Elizabeth M.; Rybin, Denis; Gray, Steven J.; Bonnemann, Carsten G.
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
FRONTIERS IN IMMUNOLOGY
IF5.9
2023-05-054
OAAI
Beers, Breanna J. J.; Similuk, Morgan N. N.; Ghosh, Rajarshi; Seifert, Bryce A. A.; Jamal, Leila; Kamen, Michael; Setzer, Michael R. R.; Jodarski, Colleen; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Cao, Wenjia; Bi, Weimin; Veltri, Daniel; Karlins, Eric; Zhang, Lingwen; Li, Zhiwen; Oler, Andrew J. J.; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Bielekova, Bibiana; Frischmeyer-Guerrerio, Pamela; Dang Do, An; Huryn, Laryssa A. D. A.; Olivier, Kenneth N. N.; Su, Helen C. C.; Lyons, Jonathan J. J.; Zerbe, Christa S. S.; Rao, V. Koneti; Keller, Michael D.; Freeman, Alexandra F. F.; Holland, Steven M. M.; Franco, Luis M. M.; Walkiewicz, Magdalena A. A.; Yan, Jia
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF KB-Mediated Autoinflammatory Disease with Retinal Dystrophy

ROSAH的眼科表现 (视网膜营养不良，视神经水肿，脾肿大，无汗和头痛) 综合征，一种遗传性NF KB介导的自身炎症性疾病，伴有视网膜营养不良

OPHTHALMOLOGY
IF9.5
2023-04-0110
OA
Huryn, Laryssa A.; Kozycki, Christina Torres; Serpen, Jasmine Y.; Zein, Wadih M.; Ullah, Ehsan; Iannaccone, Alessandro; Williams, Lloyd B.; Sobrin, Lucia; Brooks, Brian P.; Sen, H. Nida; Hufnagel, Robert B.; Kastner, Daniel L.; Kodati, Shilpa
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics
COMMUNICATIONS BIOLOGY
IF5.1
2022-09-1311
OAAI
Aguilera, Nancy; Liu, Tao; Bower, Andrew J.; Li, Joanne; Abouassali, Sarah; Lu, Rongwen; Giannini, John; Pfau, Maximilian; Bender, Chelsea; Smelkinson, Margery G.; Naik, Amelia; Guan, Bin; Schwartz, Owen; Volkov, Andrei; Dubra, Alfredo; Liu, Zhuolin; Hammer, Daniel X.; Maric, Dragan; Fariss, Robert; Hufnagel, Robert B.; Jeffrey, Brett G.; Brooks, Brian P.; Zein, Wadih M.; Huryn, Laryssa A.; Tam, Johnny

研究方向

暂未获取到该数据
W
Wadih M. Zein
H 指数:33论文数:204被引数:3,443
R
Robert B. Hufnagel
H 指数:33论文数:251被引数:3,461
B
Brian P. Brooks
H 指数:31论文数:180被引数:2,666
C
Catherine A. Cukras
H 指数:40论文数:228被引数:4,723
E
Ehsan Ullah
H 指数:23论文数:175被引数:1,997
A
Amy Turriff
H 指数:17论文数:70被引数:1,133
A
Audrey Thurm
H 指数:58论文数:301被引数:1.5万
J
Johnny Tam
H 指数:22论文数:102被引数:1,920
B
Brett G. Jeffrey
H 指数:26论文数:123被引数:2,926
刘
刘涛
H 指数:14论文数:66被引数:712