Search Results - Stephan Zuchner

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  1. 1

    No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes by Maike F. Dohrn, Christina Dumke, Ingo Kurth, Stephan Züchner

    Published in Journal of Affective Disorders Reports (2023-04-01)
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  2. 2

    Somatic mtDNA mutation spectra in the aging human putamen. by Siôn L Williams, Deborah C Mash, Stephan Züchner, Carlos T Moraes

    Published in PLoS Genetics (2013-01-01)
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  3. 3

    Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen. by Siôn L. Williams, Deborah C. Mash, Stephan Züchner, Carlos T. Moraes

    Published in PLoS Genetics (2013-12-01)
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  4. 4

    Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy by Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta

    Published in Stem Cell Research (2024-08-01)
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  5. 5

    P265: Exploring ophthalmological diagnoses in the Undiagnosed Diseases Network: Insights and implications by Stephanie Bivona, Carson Smith, Nicholas Borja, Guney Bademci, LéShon Peart, Stephan Zuchner, Mustafa Tekin

    Published in Genetics in Medicine Open (2025-01-01)
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  6. 6

    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia by David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais

    Published in Clinical and Translational Medicine (2024-01-01)
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  7. 7

    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder by Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales

    Published in Genetics in Medicine Open (2024-01-01)
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  8. 8

    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) by Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin

    Published in Genetics in Medicine Open (2024-01-01)
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  9. 9

    Deep structured learning for variant prioritization in Mendelian diseases by Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner

    Published in Nature Communications (2023-07-01)
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  10. 10

    Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 by Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews

    Published in Case Reports in Neurology (2023-06-01)
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  11. 11

    COPI-regulated mitochondria-ER contact site formation maintains axonal integrity by Daniel C. Maddison, Bilal Malik, Leonardo Amadio, Dana M. Bis-Brewer, Stephan Züchner, Owen M. Peters, Gaynor A. Smith

    Published in Cell Reports (2023-08-01)
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  12. 12

    Genetic ancestry and population structure in the All of Us Research Program cohort by Shivam Sharma, Shashwat Deepali Nagar, Priscilla Pemu, Stephan Zuchner, SEEC Consortium, Leonardo Mariño-Ramírez, Robert Meller, I. King Jordan

    Published in Nature Communications (2025-05-01)
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  13. 13

    Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties by Sheila M. Peeples, Keyana Blake, Brendan L.M. Sutton, Marina Konyukh, Stephan Züchner, Tanya Stojkovic, Jonathan Baets, Anthony Antonellis

    Published in HGG Advances (2026-01-01)
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  14. 14

    Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene by Elizabeth H. Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, Fowzan S. Alkuraya, Shahriar Nafissi, Henry Houlden, Stephan Zuchner, Mario A. Saporta

    Published in Stem Cell Research (2024-12-01)
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  15. 15

    Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens by Jeannette Osterloh, Mary Logan, Marc Freeman, Rafael F. Acosta Lebrigio, Rick H. Ulloa, Derek Van Booven, William Hulme, Michael A. Gonzalez, Stephan Zuchner

    Published in Biology (2012-12-01)
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  16. 16

    Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

    Published in Case Reports in Genetics (2015-01-01)
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  17. 17

    Exome sequencing of a multigenerational human pedigree. by Dale J Hedges, Dan Burges, Eric Powell, Cherylyn Almonte, Jia Huang, Stuart Young, Benjamin Boese, Mike Schmidt, Margaret A Pericak-Vance, Eden Martin, Xinmin Zhang, Timothy T Harkins, Stephan Züchner

    Published in PLoS ONE (2009-12-01)
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  18. 18

    P154: Diagnostic value of repeat expansion disorders detected in genome sequencing data* by Jennefer Carter, Sarah Fazal, Devon Bonner, Chloe Reuter, Tanner Jensen, Rachel Ungar, Page Goddard, Jacinda Sampson, Brianna Tucker, Elijah Kravets, Shruti Marwaha, Stephen Montgomery, Stephan Zuchner, Jonathan Bernstein, Matthew Wheeler

    Published in Genetics in Medicine Open (2025-01-01)
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  19. 19

    RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci by Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido

    Published in Genome Biology (2024-01-01)
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  20. 20

    Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency by Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai

    Published in JCI Insight (2023-05-01)
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