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Stephan Sanders

university of oxford

85H-index
538Paper Count
5.0WCitation Count
Published Papers 134
Publication Date
Accurately modeling RNase H-mediated antisense oligonucleotide efficacy
err2026-07-07
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errOAAI
errBarney Hill; Maisie R. Jaques; Remya R. Nair; Nicola Whiffin; Matthew J.A. Wood; Stephan J. Sanders; Peter L. Oliver; Alyssa C. Hill; Carlo Rinaldi
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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-05-18
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errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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Targeted BDNF upregulation via upstream open reading frame disruption
err2025-12-11
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errOAAI
errNing Feng; Thomas Goedert; Nenad Svrzikapa; Dongnan Yan; Hans J. Friedrichsen; Britt Hanson; Alicia Ljungdahl; Ruxandra Dafinca; Kevin Talbot; Stephan J. Sanders; Dhanu Gupta; Mathew J.A. Wood; Thomas C. Roberts
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Publisher Correction: CRISPR activation for SCN2A-related neurodevelopmental disorders
errNature
IF48.5
err2025-12-08
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errOAAI
errSerena Tamura; Andrew D. Nelson; Perry W. E. Spratt; Elizabeth C. Hamada; Xujia Zhou; Henry Kyoung; Zizheng Li; Coline Arnould; Vladyslav Barskyi; Beniamin Krupkin; Kiana Young; Jingjing Zhao; Stephanie S. Holden; Atehsa Sahagun; Caroline M. Keeshen; Congyi Lu; Roy Ben-Shalom; Sunrae E. Taloma; Selin Schamiloglu; Ying C. Li; Lia Min; Paul M. Jenkins; Jen Q. Pan; Jeanne T. Paz; Stephan J. Sanders; Navneet Matharu; Nadav Ahituv; Kevin J. Bender
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CRISPR activation for SCN2A-related neurodevelopmental disorders
errNature
IF48.5
err2025-09-17
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PREAI
errSerena Tamura; Andrew D. Nelson; Perry W. E. Spratt; Elizabeth C. Hamada; Xujia Zhou; Henry Kyoung; Zizheng Li; Coline Arnould; Vladyslav Barskyi; Beniamin Krupkin; Kiana Young; Jingjing Zhao; Stephanie S. Holden; Atehsa Sahagun; Caroline M. Keeshen; Congyi Lu; Roy Ben-Shalom; Sunrae E. Taloma; Selin Schamiloglu; Ying C. Li; Lia Min; Paul M. Jenkins; Jen Q. Pan; Jeanne T. Paz; Stephan J. Sanders; Navneet Matharu; Nadav Ahituv; Kevin J. Bender
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Publisher Correction: Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism
err2025-09-15
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errOAAI
errSoo-Whee Kim; Hyeji Lee; Da Yea Song; Gang-Hee Lee; Jae Hyun Han; Jee Won Lee; Hee Jung Byun; Ji Hyun Son; Ye Rim Kim; Yoojeong Lee; Eunjoon Kim; Donna M. Werling; So Hyun Kim; Stephan J. Sanders; Hee Jeong Yoo; Joon-Yong An
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Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome
err2025-07-18
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errNina Žakelj; David Gosar; Špela Miroševič; Stephan J. Sanders; Alicia Ljungdahl; Sayeh Kohani; Shouhe Huang; Lok I Leong; Ying An; Miou-Jing Teo; Fiona Moultrie; Roman Jerala; Duško Lainšček; Vida Forstnerič; Petra Sušjan; Leszek Lisowski; Andrea Perez-Iturralde; Jasna Oražem Mrak; Ho Yin Edwin Chan; Damjan Osredkar
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Predicting expression-altering promoter mutations with deep learning
errScience
IF45.8
err2025-05-29
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PREAI
errKishore Jaganathan; Nicole Ersaro; Gherman Novakovsky; Yuchuan Wang; Terena James; Jeremy Schwartzentruber; Petko Fiziev; Irfahan Kassam; Fan Cao; Johann Hawe; Henry Cavanagh; Ashley Lim; Grace Png; Jeremy McRae; Abhimanyu Banerjee; Arvind Kumar; Jacob Ulirsch; Yan Zhang; Francois Aguet; Pierrick Wainschtein; Laksshman Sundaram; Adriana Salcedo; Sofia Kyriazopoulou Panagiotopoulou; Delasa Aghamirzaie; Evin Padhi; Ziming Weng; Shan Dong; Damian Smedley; Mark Caulfield; Anne O’Donnell-Luria; Heidi L. Rehm; Stephan J. Sanders; Anshul Kundaje; Stephen B. Montgomery; Mark T. Ross; Kyle Kai-How Farh
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Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity
err2025-05-23
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errKosicki, Michael; Cintron, Dianne Laboy; Keukeleire, Pia; Schubach, Max; Page, Nicholas F.; Georgakopoulos-Soares, Ilias; Akiyama, Jennifer A.; Plajzer-Frick, Ingrid; Novak, Catherine S.; Kato, Momoe; Hunter, Riana D.; von Maydell, Kianna; Barton, Sarah; Godfrey, Patrick; Beckman, Erik; Sanders, Stephan J.; Kircher, Martin; Pennacchio, Len A.; Ahituv, Nadav
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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
err2025-04-14
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errMartin-Geary, Alexandra C.; Blakes, Alexander J. M.; Dawes, Ruebena; Findlay, Scott D.; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N.; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; Degoede, Christian G. E. L.; Anderson, Emily R.; Candler, Toby; Firth, Helen; Burge, Christopher B.; Sanders, Stephan J.; Ellingford, Jamie; Baralle, Diana; Whiffin, Nicola
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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
err2024-10-01
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errChettle, James; Louie, Raymond J.; Larner, Olivia; Best, Robert; Chen, Kevin; Morris, Josephine; Dedeic, Zinaida; Childers, Anna; Rogers, R. Curtis; Dupont, Barbara R.; Skinner, Cindy; Kury, Sebastien; Uguen, Kevin; Planes, Marc; Monteil, Danielle; Li, Megan; Eliyahu, Aviva; Greenbaum, Lior; Mor, Nofar; Besnard, Thomas; Isidor, Bertrand; Cogne, Benjamin; Blesson, Alyssa; Comi, Anne; Wentzensen, Ingrid M.; Vuocolo, Blake; Lalani, Seema R.; Sierra, Roberta; Berry, Lori; Carter, Kent; Sanders, Stephan J.; Blagden, Sarah P.
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THE ALLELIC ARCHITECTURE OF RARE VARIATION IN AUTISM AND OTHER NEURODEVELOPMENTAL CONDITIONS
err2024-10-01
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PREAI
errFu, Jack; Satterstrom, F. Kyle; McWalter, Kirsty; Brand, Harrison; Kueffner, Robert; Cutler, David; Samocha, Kaitlin; Robinson, Elise; Buxbaum, Joseph; Devlin, Bernie; Roeder, Kathryn; Kruszka, Paul; Sanders, Stephan; Daly, Mark; Talkowski, Michael
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CROSS-DISORDER RARE VARIANT ANALYSIS OF AUTISM AND ADHD
err2024-10-01
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PREAI
errDuan, Jinjie; Grove, Jakob; Demontis, Ditte; Satterstrom, F. Kyle; Fu, Jack; Carey, Caitlin; Sanders, Stephan; Devlin, Bernie; Roeder, Kathryn; Buxbaum, Joseph; Robinson, Elise; Talkowski, Michael; Neale, Benjamin; Daly, Mark; Borglum, Anders
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Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development
err2024-09-23
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errLiu, Zhidong; Ypsilanti, Athena R.; Papadimitriou, Eirene Markenscoff-; Dickel, Diane E.; Sanders, Stephan J.; Dong, Shan; Pennacchio, Len A.; Visel, Axel; Rubenstein, John L.
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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements
err2024-09-18
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errChardon, Florence M.; McDiarmid, Troy A.; Page, Nicholas F.; Daza, Riza M.; Martin, Beth K.; Domcke, Silvia; Regalado, Samuel G.; Lalanne, Jean-Benoit; Calderon, Diego; Li, Xiaoyi; Starita, Lea M.; Sanders, Stephan J.; Ahituv, Nadav; Shendure, Jay
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CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data
err2024-07-05
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errKim, Yujin; Jeong, Minwoo; Koh, In Gyeong; Kim, Chanhee; Lee, Hyeji; Kim, Jae Hyun; Yurko, Ronald; Kim, Il Bin; Park, Jeongbin; Werling, Donna M.; Sanders, Stephan J.; An, Joon-Yong
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Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways
err2024-07-01
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errKissel, Lee T.; Pochareddy, Sirisha; An, Joon-Yong; Sestan, Nenad; Sanders, Stephan J.; Wang, Xuran; Werling, Donna M.
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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
err2024-06-01
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errSilva, Dina Buitrago; Trinidad, Marena; Ljungdahl, Alicia; Revalde, Jezrael L.; Berguig, Geoffrey Y.; Wallace, William; Patrick, Cory S.; Bomba, Lorenzo; Arkin, Michelle; Dong, Shan; Estrada, Karol; Hutchinson, Keino; Lebowitz, Jonathan H.; Schlessinger, Avner; Johannesen, Katrine M.; Moller, Rikke S.; Giacomini, Kathleen M.; Froelich, Steven; Sanders, Stephan J.; Wuster, Arthur
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Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes
err2024-06-01
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errDarbandi, Siavash Fazel; An, Joon-Yong; Lim, Kenneth; Page, Nicholas F.; Liang, Lindsay; Young, David M.; Ypsilanti, Athena R.; State, Matthew W.; Nord, Alex S.; Sanders, Stephan J.; Rubenstein, John L. R.
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