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Frontiers in Pediatrics|July 3, 2026
Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathwaysEva Teresa Töpfer, Marion Zähringer, Michael K Baumgartner, et al.
Cancer Research|May 13, 2010
Pathways of proliferation and antiapoptosis driven in breast cancer stem cells by stem cell protein piwil2Jae Ho Lee, Cornelia Jung, Parisa Javadian-Elyaderani, et al.
Journal of Medical Genetics|January 25, 2024
De novo heterozygous missense variants in <i>CELSR1</i> as cause of fetal pleural effusions and progressive fetal hydropsMaayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, et al.
Science Immunology|March 13, 2021
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiationTim D Holmes, Ram Vinay Pandey, Eric Y Helm, et al.
Cell Reports. Medicine|July 17, 2024
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalusFrancesca Bertino, Dibyanti Mukherjee, Massimo Bonora, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
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