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Tuberculosis (Edinburgh, Scotland)|April 30, 2017
The SIGLEC14 null allele is associated with Mycobacterium tuberculosis- and BCG-induced clinical and immunologic outcomesAndrew D Graustein, David J Horne, Jerry J Fong, et al.Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.Nature Biotechnology|February 29, 2012
Massively parallel functional dissection of mammalian enhancers in vivoRupali P Patwardhan, Joseph B Hiatt, Daniela M Witten, et al.American Journal of Human Genetics|January 27, 2009
Population analysis of large copy number variants and hotspots of human genetic diseaseAndy Itsara, Gregory M Cooper, Carl Baker, et al.Tissue Engineering. Part A|November 8, 2014
Transforming growth factor beta 1 augments calvarial defect healing and promotes suture regenerationSameer Shakir, Zoe M MacIsaac, Sanjay Naran, et al.The Journal of Craniofacial Surgery|October 20, 2018
Reconstruction of a Calvarial Wound Complicated by Infection: Comparing the Effects of Biopatterned Bone Morphogenetic Protein 2 and Vascular Endothelial Growth FactorJack E Brooker, Liliana B Camison, Michael R Bykowski, et al.American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesJacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.Pageof 38