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HGG Advances|November 8, 2025
Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPKRose M Doss, Sara A Wirth, Jonathan W Pitsch, et al.
Biorxiv : the Preprint Server for Biology|April 16, 2025
CREPE (CREate Primers and Evaluate): a computational tool for large-scale primer design and specificity analysisJonathan W Pitsch, Sara A Wirth, Nicole T Costantino, et al.
Genes|September 27, 2025
CREPE (CREate Primers and Evaluate): A Computational Tool for Large-Scale Primer Design and Specificity AnalysisJonathan W Pitsch, Sara A Wirth, Nicole T Costantino, et al.
American Journal of Human Genetics|July 24, 2018
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental SyndromeMartin W Breuss, An Nguyen, Qiong Song, et al.
Cell|August 13, 2021
Developmental and temporal characteristics of clonal sperm mosaicismXiaoxu Yang, Martin W Breuss, Xin Xu, et al.
Nature Medicine|December 25, 2019
Autism risk in offspring can be assessed through quantification of male sperm mosaicismMartin W Breuss, Danny Antaki, Renee D George, et al.
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