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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: tan tt, tan es. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 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: tan tt. 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.
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA. Hu WF, et al. Among authors: tan tt. Neuron. 2014 Dec 17;84(6):1240-57. doi: 10.1016/j.neuron.2014.12.017. Neuron. 2014. PMID: 25521379 Free PMC article.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B. Szenker-Ravi E, et al. Among authors: tan tt. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Nature. 2018. PMID: 29769720
A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects.
Sahni G, Chang SY, Meng JTC, Tan JZY, Fatien JJC, Bonnard C, Utami KH, Chan PW, Tan TT, Altunoglu U, Kayserili H, Pouladi M, Reversade B, Toh YC. Sahni G, et al. Among authors: tan tt, tan jzy. Adv Sci (Weinh). 2021 Jan 6;8(5):2001100. doi: 10.1002/advs.202001100. eCollection 2021 Mar. Adv Sci (Weinh). 2021. PMID: 33717833 Free PMC article.
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B. Szenker-Ravi E, et al. Among authors: tan tt. Nature. 2018 Sep;561(7722):E7. doi: 10.1038/s41586-018-0296-7. Nature. 2018. PMID: 29977062
A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects.
Sahni G, Chang SY, Teo JCM, Tan JZY, Fatien JJC, Bonnard C, Utami KH, Chan PW, Tan TT, Altunoglu U, Kayserili H, Pouladi M, Reversade B, Toh YC. Sahni G, et al. Among authors: tan tt, tan jzy. Adv Sci (Weinh). 2021 Jul;8(13):e2101786. doi: 10.1002/advs.202101786. Adv Sci (Weinh). 2021. PMID: 34231333 Free PMC article. No abstract available.
291 results