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9 Publications
2023 | Journal Article | IST-REx-ID: 14368 | 
Accogli A, Lin S-J, Severino M, Kim S-H, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. 2023. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. Genetics in Medicine. 25(11), 100938.
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2023 | Journal Article | IST-REx-ID: 14639 |
Lin S-J, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. 2023. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Medicine. 15, 102.
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2023 | Journal Article | IST-REx-ID: 14077 |
Puixeu Sala, Gemma, Ariana Macon, and Beatriz Vicoso. “Sex-Specific Estimation of Cis and Trans Regulation of Gene Expression in Heads and Gonads of Drosophila Melanogaster.” G3: Genes, Genomes, Genetics. Oxford University Press, 2023. https://doi.org/10.1093/g3journal/jkad121.
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2022 | Journal Article | IST-REx-ID: 12142 |
Ojavee, Sven E., Zoltan Kutalik, and Matthew Richard Robinson. “Liability-Scale Heritability Estimation for Biobank Studies of Low-Prevalence Disease.” The American Journal of Human Genetics. Elsevier, 2022. https://doi.org/10.1016/j.ajhg.2022.09.011.
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2021 | Journal Article | IST-REx-ID: 15272 |
Tang, Leo T. H., Meera Trivedi, Jenna Freund, Christopher J. Salazar, Maisha Rahman, Nelson Ramirez, Garrett Lee, Yu Wang, Barth D. Grant, and Hannes E. Bülow. “The CATP-8/P5A-Type ATPase Functions in Multiple Pathways during Neuronal Patterning.” PLOS Genetics. Public Library of Science, 2021. https://doi.org/10.1371/journal.pgen.1009475.
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| PubMed | Europe PMC
2020 | Journal Article | IST-REx-ID: 12189 |
Christophorou, Nicolas, Wenjing She, Jincheng Long, Aurélie Hurel, Sébastien Beaubiat, Yassir Idir, Marina Tagliaro-Jahns, et al. “AXR1 Affects DNA Methylation Independently of Its Role in Regulating Meiotic Crossover Localization.” PLOS Genetics. Public Library of Science (PLoS), 2020. https://doi.org/10.1371/journal.pgen.1008894.
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2019 | Journal Article | IST-REx-ID: 11059
Buchwalter, Abigail, Jeanae M. Kaneshiro, and Martin Hetzer. “Coaching from the Sidelines: The Nuclear Periphery in Genome Regulation.” Nature Reviews Genetics. Springer Nature, 2019. https://doi.org/10.1038/s41576-018-0063-5.
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2013 | Journal Article | IST-REx-ID: 11086 |
Liang, Yun, Tobias M. Franks, Maria C. Marchetto, Fred H. Gage, and Martin Hetzer. “Dynamic Association of NUP98 with the Human Genome.” PLoS Genetics. Public Library of Science, 2013. https://doi.org/10.1371/journal.pgen.1003308.
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2010 | Journal Article | IST-REx-ID: 11099
Doucet, Christine M., and Martin Hetzer. “Nuclear Pore Biogenesis into an Intact Nuclear Envelope.” Chromosoma. Springer Nature, 2010. https://doi.org/10.1007/s00412-010-0289-2.
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