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Papers共 242 篇Author StatisticsCo-AuthorSimilar Experts

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Consensus Guidelines for Assessing Eligibility of Pathogenic DNA Variants for Antisense Oligonucleotide Treatments
David Cheerie, Margaret M Meserve,Danique Beijer,Charu Kaiwar, Logan Newton,Ana Lisa Taylor Tavares, Aubrie Soucy Verran, Emma Sherrill, Stefanie Leonard,Stephan J Sanders, Emily Blake, Nour Elkhateeb, Aastha Gandhi, Nicole S Y Liang, Jack T Morgan, Anna Verwillow,Jan Verheijen, Andrew Giles, Sean Williams,Maya Chopra, Laura Croft, Hormos Salimi Dafsari, Alice E Davidson, Jennifer Friedman, Anne Gregor,Bushra Haque, Rosan Lechner, Kylie-Ann Montgomery,Mina Ryten, Emil Schober,Gabriele Siegel,Patricia J Sullivan, Ella F Whittle, Bianca Zardetto,Timothy W Yu,Matthis Synofzik,Annemieke Aartsma-Rus,Gregory Costain, Marlen C Lauffer, N=1 Collaborative
American journal of human geneticsno. 5 (2025): 975-983
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P723: Expanding the Diagnostic Toolkit Using Long-Read RNA-sequencing
Kylie Montgomery,Hannah Macpherson, Claire Anderson, Emil Gustavsson,Henry Houlden,Emma Clement, Philippa Mills,Mina Ryten
Genetics in Medicine Open (2025): 103092
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Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients
Paula Saffie-Awad, Abraham Moller,Kensuke Daida,Pilar Alvarez Jerez, Zhongbo Chen, Zachary B Anderson,Mariam Isayan, Kimberly Paquette,Sophia B Gibson, Madison Fulcher, Abigail Miano-Burkhardt,Laksh Malik, Breeana Baker, Paige Jarreau,Henry Houlden,Mina Ryten, Bida Gu,Mark J P Chaisson,Danny E Miller,Pedro Chaná-Cuevas,Cornelis Blauwendraat,Andrew B Singleton,Kimberley J Billingsley
Movement disorders official journal of the Movement Disorder Society (2025)
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17Q21.31 Locus Regulates Parkinson's Disease Relevant Pathways Through KANSL1 Activity
Amy R Hicks, Ben O'Callaghan, Jonathan W Brenton, Melissa Grant-Peters, Aine Fairbrother-Browne, Guillermo Rocamora Perez, Caitlin A Loh, Regina H Reynolds,Emil K Gustavsson,Kylie Montgomery, Maria Tsalenchuk,Raquel Real,Huw Morris,Katie Lunnon,Sarah J Marzi,Zane Jaunmuktane,John Hardy,Helene Plun-Favreau,Mina Ryten
biorxiv（2025）
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Identification of Spatially Resolved and Cell Type-Specific Molecular Signatures in Neurodegenerative Movement Disorders
Hemanth Nelvagal, Toby Curless, Nancy Chiraki,Raquel Real, Modesta Blunskyte, Daria Gavriouchkina,Mina Ryten,John Hardy,Zane Jaunmuktane
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2025)
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Astrocytic RNA Editing Regulates the Host Immune Response to Alpha-Synuclein
Karishma D'Sa, Minee L Choi, Aaron Z Wagen, Núria Setó-Salvia,Olga Kopach, James R Evans,Margarida Rodrigues, Patricia Lopez-Garcia, Joanne Lachica, Benjamin E Clarke, Jaijeet Singh, Ali Ghareeb, James Bayne, Melissa Grant-Peters, Sonia Garcia-Ruiz, Zhongbo Chen, Samuel Rodriques,Dilan Athauda,Emil K Gustavsson,Sarah A Gagliano Taliun,Christina Toomey, Regina H Reynolds,George Young,Stephanie Strohbuecker,Thomas Warner, Dmitri A Rusakov,Rickie Patani,Clare Bryant, David A Klenerman,Sonia Gandhi,Mina Ryten
Science advancesno. 15 (2025): eadp8504-eadp8504
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Author Statistics

#Papers: 242

#Citation: 22913

H-Index: 59

G-Index: 151

Sociability: 8

Diversity: 3

Activity: 113

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