Publications by authors named "Tim Schedl"

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Null Mutant Shows Touch Receptor Neuron Migration Defects in .
Sara DaCunha, Gary A Silverman, Tim Schedl, Stephen C Pak, Sara M Fielder

MicroPubl Biol· December 2025

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FTDC1/2, oocyte-specific cofactors of DNMT1 required for epigenetic regulation and embryonic development.
Congyang Li, Jiashuo Li, Siyu Du, Yunfei Ma, Yueshuai Guo, Tim Schedl

Cell Death Differ· November 2025

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ATG-3 limits Orsay virus infection in C. elegans and regulates collagen pathways.
Gowri Kalugotla, Vivien Marmerstein, Lawrence A Schriefer, Leran Wang, Stephanie A Morrison, Tim Schedl

PLoS Pathog· November 2025

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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Tim Schedl

EMBO Mol Med· October 2025

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A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures.
Nahyun Kong, Zitian Tang, Andrew Ruttenberg, Juan F Macias-Velasco, Zefan Li, Tim Schedl

bioRxiv· October 2025

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Notch signaling in germ line stem cells controls reproductive aging in .
Zuzana Kocsisova, Elena D Bagatelas, Jesus Santiago-Borges, Hanyue Cecilia Lei, Brian M Egan, Tim Schedl

PNAS Nexus· August 2025

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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Tim Schedl

medRxiv· July 2025

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Similarities and differences in the gene expression signatures of physiological age versus future lifespan.
Matthew C Mosley, Holly E Kinser, Olivier M F Martin, Nicholas Stroustrup, Tim Schedl

Aging Cell· April 2025

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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Tim Schedl

Am J Hum Genet· March 2025

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ATG-3 limits Orsay virus infection in through regulation of collagen pathways.
Gowri Kalugotla, Vivien Marmerstein, Lawrence A Schriefer, Leran Wang, Stephanie Morrison, Tim Schedl

bioRxiv· January 2025

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Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Tim Schedl

Science· November 2024

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Tim Schedl

Nat Commun· September 2024

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WormBase 2024: status and transitioning to Alliance infrastructure.
Paul W Sternberg, Kimberly Van Auken, Qinghua Wang, Adam Wright, Karen Yook, Tim Schedl

Genetics· May 2024

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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Tim Schedl

PLoS Genet· November 2023

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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Tim Schedl

Hum Mol Genet· October 2023

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TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line.
John L Brenner, Erin M Jyo, Ariz Mohammad, Paul Fox, Vovanti Jones, Tim Schedl

Dev Biol· November 2022

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Innexin function dictates the spatial relationship between distal somatic cells in the gonad without impacting the germline stem cell pool.
Theadora Tolkin, Ariz Mohammad, Todd A Starich, Ken C Q Nguyen, David H Hall, Tim Schedl

Elife· September 2022

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Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Sara M Fielder, Jill A Rosenfeld, Lindsay C Burrage, Lisa Emrick, Seema Lalani, Tim Schedl

Mol Genet Metab· May 2022

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WormBase in 2022-data, processes, and tools for analyzing Caenorhabditis elegans.
Paul Davis, Magdalena Zarowiecki, Valerio Arnaboldi, Andrés Becerra, Scott Cain, Tim Schedl

Genetics· April 2022

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Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Thomas Boulin, Omar Itani, Sonia El Mouridi, Alice Leclercq-Blondel, Marie Gendrel, Tim Schedl

Mol Genet Metab· February 2022

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A dominant negative variant of disrupts maturation of surfactant protein B and surfactant protein C.
Huiyan Huang, Jiehong Pan, David R Spielberg, Neil A Hanchard, Daryl A Scott, Tim Schedl

Proc Natl Acad Sci U S A· February 2022

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Release of CHK-2 from PPM-1.D anchorage schedules meiotic entry.
Antoine Baudrimont, Dimitra Paouneskou, Ariz Mohammad, Raffael Lichtenberger, Joshua Blundon, Tim Schedl

Sci Adv· February 2022

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Reevaluation of the role of LIP-1 as an ERK/MPK-1 dual specificity phosphatase in the germline.
Debabrata Das, Jacob Seemann, David Greenstein, Tim Schedl, Swathi Arur

Proc Natl Acad Sci U S A· January 2022

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A simple one-step PCR assay for SNP detection.
Jian Chen, Tim Schedl

MicroPubl Biol· June 2021

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Dustin Baldridge, Michael F Wangler, Angela N Bowman, Shinya Yamamoto, , Tim Schedl

Orphanet J Rare Dis· May 2021

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