Karen Usdin - Publications, H-index & Citations

Karen Usdin

national institutes of health

44H指数

154论文数

5.6K被引数

收录论文 79

发表时间

Toward the clinical application of long-read sequencing in repeat-expansion disorders 长读测序在重复序列扩增疾病中的临床应用展望

Nature Genetics

IF29

2026-08-20

PREAI

Louise Benarroch; Jovan Pešović; Marzia Rossato; Zhongbo Chen; Morghan C. Lucas; Guillaume Cogan; Indhu-Shree Rajan-Babu; Vitus Prokosch; Christina Zarouchlioti; Marco Carlomagno; Ida Höijer; Mayra Sauer; Ismail Jamail; Shota Shibata; Glen Lester Sequiera; Benjamin P. Kleinstiver; Sonia Lameiras; Ricardo Mouro Pinto; Giuseppe Novelli; Davina Hensman Moss; Natalia Dominik; Mathieu Barbier; Isabelle Le Ber; Guillaume Bassez; Denis Furling; Massimo Delledonne; Karen Usdin; Sylvain Baulande; Geneviève Gourdon; Birgitt Schüle; Dušanka Savić-Pavićević; Annalisa Botta; Alice E. Davidson; Adam Ameur; Vincent Dion; Stéphanie Tomé

Huntington disease: somatic expansion, pathobiology and therapeutics 亨廷顿病：体细胞扩展、病理生物学和治疗学

Nature Reviews Neurology

IF33.1

2025-11-13

PREAI

Jasmine Donaldson; Davina Hensman Moss; Marc Ciosi; Karen Usdin; Gabriel Balmus; Darren G. Monckton; Sarah J. Tabrizi

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort 一种在全基因组范围内发现新型重复扩展疾病的未诊断疾病网络队列的研究方法

Genetics in Medicine

IF6.2

2025-05-22

PREAI

Sarah Fazal; Harriet Dashnow; Maike F. Dohrn; Jacquelyn Raposo; Laurel Hiatt; Matt C. Danzi; Isaac R.L. Xu; Camilo Toro; David R. Adams; Karen Usdin; Bruce Hayward; Shilpa Nadimpalli Kobren; Shamil R. Sunyaev; Rebecca C. Spillmann; Vandana Shashi; Adriana Rebelo; Guney Bademci

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia MSH2对于脆性X综合征中FMR1位点的DNA甲基化维持或重复序列收缩，以及费里德赖希共济失调症中FXN位点的上述过程均非必需。

EPIGENETICS & CHROMATIN

IF3.5

2025-04-28

OAAI

Grant-Bier, Jessalyn; Ruppert, Kathryn; Hayward, Bruce; Usdin, Karen; Kumari, Daman

Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders FANCJ/BRIP1/BACH1 DNA解旋酶在脆性X相关疾病小鼠模型中重复序列扩展的组织特异性效应

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

IF4.9

2025-03-15

OAAI

Jimenez, Diego Antonio; Walker, Alexandra; Usdin, Karen; Zhao, Xiaonan

3A or not 3A: Cytidine deaminases in the etiology of the CAG- repeat expansion diseases 3A或非3A：胞苷脱氨酶在CAG-重复扩展疾病病因学中的作用

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2025-02-24

OAAI

Usdin, Karen

Repeat expansion in a fragile X model is independent of double strand break repair mediated by Pol θ, RAD52, RAD54 or RAD54B

SCIENTIFIC REPORTS

IF3.9

2025-02-11

OAAI

Hayward, Bruce E.; Kim, Geum-Yi; Miller, Carson J.; Mccann, Cai; Lowery, Megan G.; Wood, Richard D.; Usdin, Karen

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder Disco-Interacting Protein 2 同源物 B CGG 重复扩展在具有神经发育障碍和进行性运动障碍的同胞中的研究

MOVEMENT DISORDERS

IF7.6

2025-01-24

PREAI

Theberge, Emilie T.; Durbano, Kate; Demailly, Diane; Huby, Sophie; Mitina, Aleksandra; Yin, Yue; Mohajeri, Arezoo; van Karnebeek, Clara; Horvath, Gabriella A.; Yuen, Ryan K. C.; Usdin, Karen; Lehman, Anna; Cif, Laura; Richmond, Phillip A.

Intersection of the fragile X-related disorders and the DNA damage response

DNA REPAIR

IF2.7

2024-12-01

PREAI

Kumari, Daman; Grant-Bier, Jessalyn; Kadyrov, Farid; Usdin, Karen

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN

NEUROLOGY-GENETICS

IF3.7

2024-12-01

PREAI

Gerhart, Brandon J.; Pellerin, David; Danzi, Matt C.; Zuchner, Stephan; Brais, Bernard; Matos-Rodrigues, Gabriel; Nussenzweig, Andre; Usdin, Karen; Park, Courtney C.; Napierala, Jill S.; Lynch, David R.; Napierala, Marek

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus 一个常见的侧翼变异与FGF14-SCA27B重复基因座的稳定性增强有关

NATURE GENETICS

IF31.8

2024-06-27

PREAI

Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

SCIENTIFIC REPORTS

IF3.9

2024-06-14

OAAI

Hayward, Bruce; Kumari, Daman; Santra, Saikat; van Karnebeek, Clara D. M.; van Kuilenburg, Andre B. P.; Usdin, Karen

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation

CELLS

IF5.2

2023-06-24

OAAI

Protic, Dragana; Polli, Roberta; Hwang, Ye Hyun; Mendoza, Guadalupe; Hagerman, Randi; Durbin-Johnson, Blythe; Hayward, Bruce E. E.; Usdin, Karen; Murgia, Alessandra; Tassone, Flora

Clinical implications of somatic allele expansion in female FMR1 premutation carriers

SCIENTIFIC REPORTS

IF3.9

2023-04-29

OAAI

Aishworiya, Ramkumar; Hwang, Ye Hyun; Santos, Ellery; Hayward, Bruce; Usdin, Karen; Durbin-Johnson, Blythe; Hagerman, Randi; Tassone, Flora

S1-END-seq reveals DNA secondary structures in human cells

MOLECULAR CELL

IF16.6

2022-10-01

OAAI

Matos-Rodrigues, Gabriel; van Wietmarschen, Niek; Wu, Wei; Tripathi, Veenu; Koussa, Natasha C.; Pavani, Raphael; Nathan, William J.; Callen, Elsa; Belinky, Frida; Mohammed, Ashraf; Napierala, Marek; Usdin, Karen; Ansari, Aseem Z.; Mirkin, Sergei M.; Nussenzweig, Andre

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation 嵌套在串联CNVs中的重复扩增: GLS的独特结构变化例证了非编码致病变异的诊断挑战

HUMAN MOLECULAR GENETICS

IF3.2

2022-08-01

OAAI

Fazal, Sarah; Danzi, Matt C.; van Kuilenburg, Andre B. P.; Reich, Selina; Traschutz, Andreas; Bender, Benjamin; Leen, Rene; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R.; van Karnebeek, Clara D. M.; Ferreira, Carlos R.; D'Sousa, Precilla; Tekin, Mustafa; Zuchner, Stephan; Synofzik, Matthis

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation

SCIENTIFIC REPORTS

IF3.9

2022-06-21

OAAI

Hwang, Ye Hyun; Hayward, Bruce Eliot; Zafarullah, Marwa; Kumar, Jay; Johnson, Blythe Durbin; Holmans, Peter; Usdin, Karen; Tassone, Flora

Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models

DISEASE MODELS & MECHANISMS

IF3.3

2022-05-13

OAAI

Zhao, Xiaonan; McHugh, Cassandra; Coffey, Sydney R.; Jimenez, Diego Antonio; Adams, Elizabeth; Carroll, Jeffrey B.; Usdin, Karen