Publications

White LK, Dobson K, del Pozo S, Bilodeaux JM, Andersen SE, Baldwin A, Barrington C, Körtel N, Martinez-Seidel F, Strugar SM, Watt KEN, Mukherjee N, Hesselberth JR. 2024. Comparative analysis of 43 distinct RNA modifications by nanopore tRNA sequencing. bioRxiv 2024.07.23.604651; doi: 10.1101/2024.07.23.604651. PubMed

2024


Michell-Robinson MA, Watt KEN, Grouza V, Macintosh J, Pinard M, Tuznik M, Chen X, Darbelli L, Wu CL, Perrier S, Girbig M, Chitsaz D, Ucelli N, Kaestner K, Cox TC, Mueller C, Kennedy T, Coulombe B, Rudko D, Trainor PA, Bernard G. 2023. Hypomyelination, hypodontia, and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy. Brain. Aug 28:awad249. doi: 10.1093/brain/awad249. PubMed

Smallwood K, Watt KEN, Ide S, Baltrunaite K, Inskeep K, Adam M, Begtrup A, Bertola DR, Cho M, Demmer L, Demo E, Devinsky O, Gallagher E, Guillen Sacoto MJ, Keller-Ramey J, Keren B, Ladda R, Mardy A, McLaughlin H, McWalters K, Person R, Schnur R, Skorvanek M, Slavotinek A, Sullivan BR, Stark Z, Symonds J, Wenger T, Whalen S, Willaert R, Zech M, Zeidler S, Stottmann RW, Trainor PA, Weaver KN. 2023. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. American Journal of Human Genetics 110(5):809-825. PubMed

2023


Falcon KT, Watt KEN, Dash S, Zhao R, Sakai D, Moore EL, Fitriasari S, Childers M, Sardiu ME, Swanson S, Tsuchiya D, Unruh J, Bugarinovic G, Li L, Shiang R, Achilleos A, Dixon J, Dixon MJ, Trainor PA. 2022. Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development. PNAS. 119:e2116974119. PubMed

2022

Watt KEN, Macintosh J, Bernard G, Trainor PA. 2022. RNA Polymerases I and III in development and disease. Seminars in Cell & Developmental Biology. Apr 11:S1084-9521(22)00100-8. PubMed


Watt KEN, Neben C, Hall S, Merrill A, Trainor PA. 2018. tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. Human Molecular Genetics 27(15):2628-2643. PubMed

2018


Noack Watt KE, Achilleos A, Neben C, Merrill A, Trainor PA. 2016. The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. PLoS Genetics 12(7):e1006187. PubMed

older

Weaver KN, Noack Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM. 2015. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics 96(5):765-774. PubMed

Noack Watt KE, Trainor PA. 2014. Chapter 17 - Neurocristopathies: The Etiology and Pathogenesis of Disorders Arising from Defects in Neural Crest Cell Development. In: Trainor PA, editor. Neural Crest Cells. Boston: Academic Press. p 361-394.