Publications by authors named "Stephan Sanders"

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Publisher Correction: CRISPR activation for SCN2A-related neurodevelopmental disorders.
Serena Tamura, Andrew D Nelson, Perry W E Spratt, Elizabeth C Hamada, Xujia Zhou, Stephan J Sanders

Nature· January 2026

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Targeted BDNF upregulation via upstream open reading frame disruption.
Ning Feng, Thomas Goedert, Nenad Svrzikapa, Dongnan Yan, Hans J Friedrichsen, Stephan J Sanders

Mol Ther· December 2025

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Clinical Manifestations.
Youjin Jung, Jolina Lombardi, Rowan Heffelfinger, Sarah Inkelis, Christa Watson Pereira, Stephan Sanders

Alzheimers Dement· December 2025

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Large-scale discovery of neural enhancers for cis-regulation therapies.
Troy A McDiarmid, Nicholas F Page, Florence M Chardon, Riza M Daza, George T Chen, Stephan J Sanders

bioRxiv· November 2025

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Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.
Guohua Yuan, Varun Suresh, Emilie Wigdor, Yuhan Hao, Rachel Leonard, Stephan J Sanders

bioRxiv· November 2025

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Common and rare variant genetic contributions in African Americans with autism.
Matilde Cirnigliaro, Jennifer K Lowe, Alexander O Flynn-Carroll, Michi E Kumagai, David S Gibson, Stephan J Sanders

medRxiv· November 2025

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Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
Nina Žakelj, David Gosar, Špela Miroševič, Stephan J Sanders, Alicia Ljungdahl

HGG Adv· October 2025

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CRISPR activation for SCN2A-related neurodevelopmental disorders.
Serena Tamura, Andrew D Nelson, Perry W E Spratt, Elizabeth C Hamada, Xujia Zhou, Stephan J Sanders

Nature· October 2025

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Publisher Correction: Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jae Hyun Han, Stephan J Sanders

Genome Med· September 2025

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Human-specific features of the cerebellum and ZP2-regulated synapse development.
Suel-Kee Kim, Adriana Cherskov, Aastha Sindhwani, Sang-Hun Choi, Hyojin Kim, Stephan J Sanders

bioRxiv· September 2025

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Predicting expression-altering promoter mutations with deep learning.
Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, Yuchuan Wang, Terena James, Stephan J Sanders

Science· August 2025

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Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jae Hyun Han, Stephan J Sanders

Genome Med· August 2025

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Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry.
Anna Gui, Anja Hollowell, Emilie M Wigdor, Morgan J Morgan, Laurie J Hannigan, Stephan J Sanders

Nat Hum Behav· July 2025

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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, Stephan J Sanders

Am J Hum Genet· May 2025

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Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity.
Michael Kosicki, Dianne Laboy Cintrón, Pia Keukeleire, Max Schubach, Nicholas F Page, Stephan J Sanders

Nat Commun· May 2025

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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Stephan J Sanders

Genome Med· April 2025

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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
James Chettle, Raymond J Louie, Olivia Larner, Robert Best, Kevin Chen, Stephan J Sanders

HGG Adv· October 2024

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The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review.
Akos Herzeg, Beltran Borges, Loukas N Diafos, Nalin Gupta, Tippi C MacKenzie, Stephan J Sanders

Prenat Diagn· October 2024

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enhancers have distinct functions in controlling expression during cortical development.
Zhidong Liu, Athéna R Ypsilanti, Eirene Markenscoff-Papadimitriou, Diane E Dickel, Stephan J Sanders

Proc Natl Acad Sci U S A· October 2024

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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.
Florence M Chardon, Troy A McDiarmid, Nicholas F Page, Riza M Daza, Beth K Martin, Stephan J Sanders

Nat Commun· September 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Stephan J Sanders

Nature· August 2024

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Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways.
Lee T Kissel, Sirisha Pochareddy, Joon-Yong An, Nenad Sestan, Stephan J Sanders

Biol Psychiatry Glob Open Sci· July 2024

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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Dina Buitrago Silva, Marena Trinidad, Alicia Ljungdahl, Jezrael L Revalde, Geoffrey Y Berguig, Stephan J Sanders

Am J Hum Genet· June 2024

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Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.
Siavash Fazel Darbandi, Joon-Yong An, Kenneth Lim, Nicholas F Page, Lindsay Liang, Stephan J Sanders

Cell Rep· June 2024

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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.
Yujin Kim, Minwoo Jeong, In Gyeong Koh, Chanhee Kim, Hyeji Lee, Stephan J Sanders

Brief Bioinform· May 2024

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