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Year Number of Results
2008 1
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2012 5
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2025 2

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27 results

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Page 1
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Oláhová M. Nolden KA, et al. Among authors: donnelly de. Life Sci Alliance. 2022 Aug 1;5(12):e202101284. doi: 10.26508/lsa.202101284. Life Sci Alliance. 2022. PMID: 35914810 Free PMC article.
QRICH1 mutations cause a chondrodysplasia with developmental delay.
Lui JC, Jee YH, Lee A, Yue S, Wagner J, Donnelly DE, Vogt KS, Baron J. Lui JC, et al. Among authors: donnelly de. Clin Genet. 2019 Jan;95(1):160-164. doi: 10.1111/cge.13457. Epub 2018 Oct 26. Clin Genet. 2019. PMID: 30281152 Free PMC article.
Advances in the genetics of familial renal cancer.
Morrison PJ, Donnelly DE, Atkinson AB, Maxwell AP. Morrison PJ, et al. Among authors: donnelly de. Oncologist. 2010;15(6):532-8. doi: 10.1634/theoncologist.2010-0023. Epub 2010 May 19. Oncologist. 2010. PMID: 20484339 Free PMC article. Review.
Umbilical pigmentation in Peutz-Jeghers syndrome.
Morrison PT, Donnelly DE, Morrison PJ. Morrison PT, et al. Among authors: donnelly de. Clin Dysmorphol. 2014 Jul;23(3):114-115. doi: 10.1097/MCD.0000000000000044. Clin Dysmorphol. 2014. PMID: 24878829 No abstract available.
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Kennis MGP, Rots D, Bouman A, Ockeloen CW, Boelen C, Marcelis CLM, de Vries BBA, Elting MW, Waisfisz Q, Suri M, Font-Montgomery E, Peck DS, Donnelly DE, Rogers RC, Richardson R, Caumes R, Chaumette B, Louveau C, Sallevelt SCEH, Maas SM, Smits JJ, van Haelst MM, Levy RJ, Stewart H, Loeys BL, Pfundt R, Kleefstra T, Snijders Blok L. Kennis MGP, et al. Among authors: donnelly de. Eur J Hum Genet. 2025 Mar 31. doi: 10.1038/s41431-025-01832-x. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40164730
Incidence of Fragile X syndrome in Ireland.
O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA. O'Byrne JJ, et al. Among authors: donnelly de. Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3. Am J Med Genet A. 2017. PMID: 28157260
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study; Balasubramanian M. Yates TM, et al. Among authors: donnelly de. Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944577 Free PMC article.
Familial pediatric endocrine tumors.
Millar S, Bradley L, Donnelly DE, Carson D, Morrison PJ. Millar S, et al. Among authors: donnelly de. Oncologist. 2011;16(10):1388-96. doi: 10.1634/theoncologist.2011-0120. Epub 2011 Sep 20. Oncologist. 2011. PMID: 21934104 Free PMC article. Review.
27 results