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Nature Genetics|October 3, 1999
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyK J Nowak, D Wattanasirichaigoon, H H Goebel, et al.Gut|September 30, 2019
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratificationSam O Kleeman, Viktor H Koelzer, Helen Js Jones, et al.Nature Genetics|November 14, 2018
Subtype-specific regulatory network rewiring in acute myeloid leukemiaSalam A Assi, Maria Rosaria Imperato, Daniel J L Coleman, et al.Science Translational Medicine|February 10, 2017
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitorsSergei Doulatov, Linda T Vo, Elizabeth R Macari, et al.American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.British Journal of Cancer|November 8, 2025
Experimental Cancer Medicine Centre (ECMC) network proposal for a consensus gene panel for pan-cancer sequencing: a Delphi methodologyRichard Phillips, Bristi Basu, Zohra Butt, et al.Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.Journal of Virology|August 18, 2021
Redondovirus Diversity and Evolution on Global, Individual, and Molecular ScalesLouis J Taylor, Marisol I Dothard, Meagan A Rubel, et al.Research Square|August 3, 2021
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infectionChao Zhang, Anurag Verma, Yuanqing Feng, et al.The Journal of Clinical Investigation|February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humansSally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.Pageof 148