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Kathryn J Swoboda (Kathy J Swoboda, Kathryn Swoboda)

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 18

Top Venues

Muscle & nerve

bioRxiv : the preprint server for biology

Nature medicine

Annals of clinical and translational neurology

Massachusetts General Hospital

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Massachusetts General Hospital Apr 1o 2015

United States

Katherine B. Sims Endowed Chair in Neurogenetics :: Neurology

Publications

Christiano R R Alves, Leillani L Ha, Rebecca A Yaworski, Cicera R Lazzarotto, Kathleen A Christie, Aoife Reilly, Ariane Beauvais, Roman M Doll, Demitri de la Cruz, Casey A Maguire, Kathryn J Swoboda, Shengdar Q Tsai, Rashmi Kothary, Benjamin P Kleinstiver
Base editing as a genetic treatment for spinal muscular atrophy. bioRxiv : the preprint server for biology (2023)
Christiano R R Alves, Leillani L Ha, Rebecca Yaworski, Emma R Sutton, Cicera R Lazzarotto, Kathleen A Christie, Aoife Reilly, Ariane Beauvais, Roman M Doll, Demitri de la Cruz, Casey A Maguire, Kathryn J Swoboda, Shengdar Q Tsai, Rashmi Kothary, Benjamin P Kleinstiver
Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy. Nature biomedical engineering (2023)
Christiano R R Alves, Leillani L Ha, Rebecca A Yaworski, Cicera R Lazzarotto, Kathleen A Christie, Aoife Reilly, Ariane Beauvais, Roman M Doll, Demitri de la Cruz, Casey A Maguire, Kathryn J Swoboda, Shengdar Q Tsai, Rashmi Kothary, Benjamin P Kleinstiver
Base editing as a genetic treatment for spinal muscular atrophy. bioRxiv : the preprint server for biology (2023)
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Silvio Bertini, Paul Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie A Parsons, Astrid Pechmann, Monique M Ryan, Russell J Butterfield, Haluk A Topaloglu, Tawfeg Ben-Omran, Valeria Ada Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, Angela D Paradis, Richard Foster, Russell Chin, Zdenek Berger, null null
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & nerve (2023)
Christiano R R Alves, Leillani L Ha, Rebecca A Yaworski, Cicera R Lazzarotto, Kathleen A Christie, Aoife Reilly, Ariane Beauvais, Roman M Doll, Demitri de la Cruz, Casey A Maguire, Kathryn J Swoboda, Shengdar Q Tsai, Rashmi Kothary, Benjamin P Kleinstiver
Base editing as a genetic treatment for spinal muscular atrophy. bioRxiv : the preprint server for biology (2023)
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Helen Chen, Kathryn J Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A Bernier, Evangeline C Kurtz-Nelson, Rachel K Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G Monaghan, Michelle M Morrow, Evan E Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Science advances 8 (33) (2022)
Kevin A Strauss, Michelle Anne Farrar, Francesco Muntoni, Kayoko Saito, Jerry R Mendell, Laurent Servais, Hugh J McMillan, Richard S Finkel, Kathryn J Swoboda, Jennifer M Kwon, Craig M Zaidman, Claudia A Chiriboga, Susan T Iannaccone, Jena M Krueger, Julie A Parsons, Perry B Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E McGill, Thomas A Macek
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature medicine 28 (7) (2022)
Kevin A Strauss, Michelle Anne Farrar, Francesco Muntoni, Kayoko Saito, Jerry R Mendell, Laurent Servais, Hugh J McMillan, Richard S Finkel, Kathryn J Swoboda, Jennifer M Kwon, Craig M Zaidman, Claudia A Chiriboga, Susan T Iannaccone, Jena M Krueger, Julie A Parsons, Perry B Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E McGill, Thomas A Macek
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature medicine 28 (7) (2022)
Deborah L Stabley, Jennifer Holbrook, Mena Scavina, Thomas O Crawford, Kathryn J Swoboda, Katherine M Robbins, Matthew E R Butchbach
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics 22 (1) (2021)
Jaime E Hale, Basil T Darras, Kathryn J Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N Hay, Binod Kumar, Anne M Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B Eaton, Anne Marie Comeau
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. International journal of neonatal screening 7 (2) (2021)
Lingling Kong, David O Valdivia, Christian M Simon, Cera W Hassinan, Nicolas Delestrée, Daniel M Ramos, Jae Hong Park, Celeste Michelle Pilato, Xixi Xu, Melissa Crowder, Chloe C Grzyb, Zachary A King, Marco Petrillo, Kathryn J Swoboda, Crystal Davis, Cathleen M Lutz, Alexander H Stephan, Xin Zhao, Marla Weetall, Nikolai A Naryshkin, Thomas O Crawford, George Z Mentis, Charlotte J Sumner
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science translational medicine 13 (578) (2021)
Eric J Eichelberger, Christiano R R Alves, Ren Zhang, Marco Petrillo, Patrick Cullen, Wildon Farwell, Jessica A Hurt, John F Staropoli, Kathryn J Swoboda
Increased systemic HSP70B levels in spinal muscular atrophy infants. Annals of clinical and translational neurology 8 (7) (2021)
Jennifer J Siranosian, Flavia C Nery, Christiano R R Alves, Benjamin A Siranosian, Nicholas J Lyons, Eric J Eichelberger, Reid Garner, Salomé Da Silva Duarte Lepez, Alec J Johnstone, Aravind Subramanian, Kathryn J Swoboda
Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients. Annals of clinical and translational neurology 7 (7) (2020)
Christiano R R Alves, Ren Zhang, Alec J Johnstone, Reid Garner, Eric J Eichelberger, Salomé Da Silva Duarte Lepez, Vivian Yi, Victoria Stevens, Rebekah Poxson, Rachel Schwartz, Phillip Zaworski, Kathryn J Swoboda
Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy. Muscle & nerve 62 (3) (2020)
Bakri Elsheikh, Wendy King, Juan Peng, Kathryn J Swoboda, Sandra P Reyna, Bernard LaSalle, Thomas W Prior, W David Arnold, John T Kissel, Stephen J Kolb
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy. Muscle & nerve 61 (2) (2019)
Sonia M Vallabh, Chloe K Nobuhara, Franc Llorens, Inga Zerr, Piero Parchi, Sabina Capellari, Eric Kuhn, Jacob Klickstein, Jiri G Safar, Flavia C Nery, Kathryn J Swoboda, Michael D Geschwind, Henrik Zetterberg, Steven E Arnold, Eric Vallabh Minikel, Stuart L Schreiber
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development. Proceedings of the National Academy of Sciences of the United States of America 116 (16) (2019)
Sabrina Paganoni, Katie Nicholson, Fawn Leigh, Kathryn J Swoboda, David Chad, Kristin Drake, Kellen Haley, Merit Cudkowicz, James D Berry
Developing multidisciplinary clinics for neuromuscular care and research. Muscle & nerve 56 (5) (2017)
Kristin J Krosschell, John T Kissel, Elise L Townsend, Sarah D Simeone, Ren Zhe Zhang, Sandra P Reyna, Thomas O Crawford, Mary K Schroth, Gyula Acsadi, Priya S Kishnani, Jürgen-Christoph Von Kleist-Retzow, Barbara Hero, Guy D'Anjou, Edward C Smith, Bakri Elsheikh, Louise R Simard, Thomas W Prior, Charles B Scott, Bernard Lasalle, Ai Sakonju, Brunhilde Wirth, Kathryn J Swoboda, null null
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I. Muscle & nerve 57 (2) (2017)

Kathryn J Swoboda.css-eqlu8i{font-size:small;padding-left:4px;} (Kathy J Swoboda, Kathryn Swoboda)

Publication Activity (10 Years)

Top Topics

Top Venues

Kathryn J Swoboda (Kathy J Swoboda, Kathryn Swoboda)