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Page 1
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Ziats MN, et al. Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16. Pediatr Res. 2020. PMID: 31618753 Free PMC article.
Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos.
Lichtig H, Artamonov A, Polevoy H, Reid CD, Bielas SL, Frank D. Lichtig H, et al. Front Physiol. 2020 Feb 18;11:75. doi: 10.3389/fphys.2020.00075. eCollection 2020. Front Physiol. 2020. PMID: 32132929 Free PMC article.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A. Werren E, et al. Res Sq [Preprint]. 2023 Sep 6:rs.3.rs-2126145. doi: 10.21203/rs.3.rs-2126145/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y PMID: 37720017 Free PMC article. Updated. Preprint.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL, Udyawar D, Kaur P, Sharma S, Suresh N, Nampoothiri S, do Rosario MC, Somashekar PH, Rao LP, Kausthubham N, Majethia P, Pande S, Ramesh Bhat Y, Shrikiran A, Bielas S, Girisha KM, Shukla A. Narayanan DL, et al. Eur J Hum Genet. 2021 Dec;29(12):1774-1780. doi: 10.1038/s41431-021-00933-7. Epub 2021 Jul 19. Eur J Hum Genet. 2021. PMID: 34276053 Free PMC article.
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Srivastava A, et al. Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5. Eur J Hum Genet. 2018. PMID: 29976978 Free PMC article.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL. Harding BN, et al. Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453579 Free PMC article.
Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation.
Khoa LTP, Tsan YC, Mao F, Kremer DM, Sajjakulnukit P, Zhang L, Zhou B, Tong X, Bhanu NV, Choudhary C, Garcia BA, Yin L, Smith GD, Saunders TL, Bielas SL, Lyssiotis CA, Dou Y. Khoa LTP, et al. Cell Stem Cell. 2020 Sep 3;27(3):441-458.e10. doi: 10.1016/j.stem.2020.06.005. Epub 2020 Jun 30. Cell Stem Cell. 2020. PMID: 32610040 Free PMC article.
17 results