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654 results

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Page 1
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: venkatesh b. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
Erythropoietin gene from a teleost fish, Fugu rubripes.
Chou CF, Tohari S, Brenner S, Venkatesh B. Chou CF, et al. Among authors: venkatesh b. Blood. 2004 Sep 1;104(5):1498-503. doi: 10.1182/blood-2003-10-3404. Epub 2004 May 13. Blood. 2004. PMID: 15142879 Free article.
Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum).
Mehta TK, Ravi V, Yamasaki S, Lee AP, Lian MM, Tay BH, Tohari S, Yanai S, Tay A, Brenner S, Venkatesh B. Mehta TK, et al. Among authors: venkatesh b. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16044-9. doi: 10.1073/pnas.1315760110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043829 Free PMC article.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: venkatesh b. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Jamuar SS, et al. Among authors: venkatesh b. EBioMedicine. 2016 Feb 4;5:211-6. doi: 10.1016/j.ebiom.2016.01.030. eCollection 2016 Mar. EBioMedicine. 2016. PMID: 27077130 Free PMC article.
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells.
Xu X, Tay Y, Sim B, Yoon SI, Huang Y, Ooi J, Utami KH, Ziaei A, Ng B, Radulescu C, Low D, Ng AYJ, Loh M, Venkatesh B, Ginhoux F, Augustine GJ, Pouladi MA. Xu X, et al. Among authors: venkatesh b. Stem Cell Reports. 2017 Mar 14;8(3):619-633. doi: 10.1016/j.stemcr.2017.01.022. Epub 2017 Feb 23. Stem Cell Reports. 2017. PMID: 28238795 Free PMC article.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J. Xue S, et al. Among authors: venkatesh b. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318499 Free PMC article.
Lampreys, the jawless vertebrates, contain only two ParaHox gene clusters.
Zhang H, Ravi V, Tay BH, Tohari S, Pillai NE, Prasad A, Lin Q, Brenner S, Venkatesh B. Zhang H, et al. Among authors: venkatesh b. Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):9146-9151. doi: 10.1073/pnas.1704457114. Epub 2017 Aug 7. Proc Natl Acad Sci U S A. 2017. PMID: 28784804 Free PMC article.
654 results