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个人简介
Dr. Zuchner’s research interests are focused on identifying, characterizing, and correcting genetic variation with a strong biological effect on human phenotypes. He is also co-leading the SEEC consortium, which is part the largest research participant enrollment efforts in the US, the All of Us Research Project. SEEC represents the largest NIH research award at the University of Miami and includes major collaborating partners in Florida, Georgia, and Puerto Rico. The national program will eventually include over one million participants, complete with electronic health records and whole genome sequence data broadly available for research. Dr. Zuchner’s long-standing interest in rare diseases include a spectrum of neuromuscular, degenerative motoneuron disorders, ataxias, and more. The team has supported the identification of over 50 novel disease genes, which frequently have been published in the top biomedical journals. These discoveries often arise from highly collaborative work with local, national, and international physicians and scientists. Dr. Zuchner is also in leading roles of several research consortia, such as the inherited neuropathy consortium, spastic paraplegia network, undiagnosed diseases consortium, and ataxia global consortium. His lab has large, aggregated data collections available (i.e. GENESIS database access) and is applying and developing advanced bioinformatics tools (ExpansionHunter, MAVERICK), which is benefitting the success of his students, post-docs, and scientists. More recently, he is pursuing the pre-clinical development of novel personalized genetic therapies for inherited diseases. Such genetic therapies (CRIPR/Cas9, antisense oligonucleotides, minigene designs) are increasingly reaching patients with genetic diseases with astonishing results.
研究兴趣
论文共 590 篇作者统计合作学者相似作者
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Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli,Arnaud Isapof,Enzo Cohen,Tanya Stojkovic,Peter Hackman, Mridul Johari, Johanna Palmio,Megan A. Waldrop,Alayne P. Meyer,Stefan Nicolau,Kevin M. Flanigan,Ana Topf, Jordi Diaz-Manera,Volker Straub, Cheryl Longman,Catherine A. McWilliam,Rotem Orbach,Sumit Verma, Regina Laine,Sandra Donkervoort,Carsten G. Bonnemann,Adriana Rebelo,Stephan Zuchner,Tiffany Grider,Michael E. Shy,Isabelle Maystadt,Florence Demurger,Anita Cairns,Sarah Beecroft,Chiara Folland,Willem De Ridder, Gina Ravenscroft,Gisele Bonne,Bjarne Udd, Jonathan Baets
crossref(2024)
Maike F. Dohrn,Danique Beijer,Museer A. Lone,Elif Bayraktar,Piraye Oflazer,Rotem Orbach,Sandra Donkervoort,A. Reghan Foley, Aubrey Rose,Michael Lyons,Raymond J. Louie,Kenneth Gable,Teresa Dunn,Sitong Chen,Matt C. Danzi,Matthis Synofzik,Carsten G. Boennemann,A. Nazli Basak,Thorsten Hornemann,Stephan Zuchner
The Lancet Neurologyno. 7 (2024): 725-739
BRAINno. 9 (2024): 3144-3156
Christopher Yanick,Renata Maciel,Elizabeth Jacobs, Jacquelyn Schatzman,Michael Shy,Stephan Zuchner,Mario Saporta
Stem cell research (2024): 103449-103449
Marwan Nashabat,Nasrinsadat Nabavizadeh,Hilal Pırıl Saraçoğlu,Burak Sarıbaş,Şahin Avcı,Esra Börklü,Emmanuel Beillard,Elanur Yılmaz, Seyide Ecesu Uygur,Cavit Kerem Kayhan,Luca Bosco, Zeynep Bengi Eren,Katharina Steindl,Manuela Friederike Richter,Guney Bademci,Anita Rauch,Zohreh Fattahi,Maria Lucia Valentino,Anne M. Connolly,Angela Bahr, Laura Viola,Anke Katharina Bergmann,Maria Eugenia Rocha,LeShon Peart, Derly Liseth Castro-Rojas,Eva Bültmann,Suliman Khan, Miriam Liliana Giarrana,Raluca Ioana Teleanu,Joanna Michelle Gonzalez,Antonella Pini,Ines Sophie Schädlich,Katharina Vill,Melanie Brugger,Stephan Zuchner, Andreia Pinto,Sandra Donkervoort,Stephanie Ann Bivona,Anca Riza,Ioana Streata,Dieter Gläser,Carolina Baquero-Montoya, Natalia Garcia-Restrepo,Urania Kotzaeridou,Theresa Brunet,Diana Anamaria Epure,Aida Bertoli-Avella,Ariana Kariminejad,Mustafa Tekin,Sandra von Hardenberg,Carsten G. Bönnemann,Georg M. Stettner,Ginevra Zanni,Hülya Kayserili,Zehra Piraye Oflazer,Nathalie Escande-Beillard
Journal of neuropathology and experimental neurologyno. 5 (2024): 318-330
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYpp.jnnp-2024, (2024)
David Pellerin,Giulia F. Del Gobbo,Madeline Couse,Egor Dolzhenko, Sathiji K. Nageshwaran,Warren A. Cheung,Isaac R. L. Xu,Marie-Josee Dicaire, Guinevere Spurdens,Gabriel Matos-Rodrigues,Igor Stevanovski,Carolin K. Scriba,Adriana Rebelo,Virginie Roth,Marion Wandzel,Celine Bonnet,Catherine Ashton, Aman Agarwal,Cyril Peter, Dan Hasson,Nadejda M. Tsankova,Ken Dewar,Phillipa J. Lamont,Nigel G. Laing,Mathilde Renaud,Henry Houlden,Matthis Synofzik,Karen Usdin,Andre Nussenzweig,Marek Napierala,Zhao Chen,Hong Jiang,Ira W. Deveson,Gianina Ravenscroft,Schahram Akbarian,Michael A. Eberle,Kym M. Boycott,Tomi Pastinen,Bernard Brais,Stephan Zuchner,Matt C. Danzi
NATURE GENETICSno. 7 (2024)
Danique Beijer,Sheila Marte, Jiaxin C. Li,Willem De Ridder, Jessie Z. Chen,Abigail L. D. Tadenev,Kathy E. Miers,Tine Deconinck,Richard Macdonell,Wilson Marques Jr,Peter De Jonghe, Samia L. Pratt,Rebecca Meyer-Schuman,Stephan Zuchner,Anthony Antonellis,Robert W. Burgess,Jonathan Baets
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作者统计
#Papers: 590
#Citation: 19857
H-Index: 74
G-Index: 129
Sociability: 8
Diversity: 0
Activity: 6
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