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American Journal of Medical Genetics. Part A|April 10, 2025
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos SyndromeFederica Russo, Cecilia Daolio, Ester Di Muro, et al.
Nucleic Acids Research|July 2, 2021
Phosphorylation of the HP1β hinge region sequesters KAP1 in heterochromatin and promotes the exit from naïve pluripotencyWeihua Qin, Enes Ugur, Christopher B Mulholland, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 3, 2018
Triple Vectors Expand AAV Transfer Capacity in the RetinaAndrea Maddalena, Patrizia Tornabene, Paola Tiberi, et al.
Stem Cell Reports|April 23, 2019
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest DevelopmentFriederike Matheus, Ejona Rusha, Rizwan Rehimi, et al.
Cellular and Molecular Life Sciences : CMLS|January 20, 2022
WNT/beta-catenin signalling interrupts a senescence-induction cascade in human mesenchymal stem cells that restricts their expansionJohannes Lehmann, Roberto Narcisi, Natasja Franceschini, et al.
Nature Cell Biology|January 2, 2019
Direct generation of human naive induced pluripotent stem cells from somatic cells in microfluidicsStefano Giulitti, Marco Pellegrini, Irene Zorzan, et al.
Brain : a Journal of Neurology|August 2, 2019
Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosisGiulia E Tyzack, Raphaelle Luisier, Doaa M Taha, et al.
Nature Biotechnology|March 25, 2014
The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cellsCole Trapnell, Davide Cacchiarelli, Jonna Grimsby, et al.
Journal of Human Genetics|March 6, 2024
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorderSilvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, et al.
Frontiers in Cell and Developmental Biology|June 29, 2023
Loss of TDP-43 causes ectopic endothelial sprouting and migration defects through increased fibronectin, vcam 1 and integrin α4/β1Katrin Hipke, Bettina Pitter, Alexander Hruscha, et al.
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