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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: deigendesch w. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
A previously identified missense mutation in STYXL1 is likely benign.
Hengel H, Schelling Y, Keimer R, Deigendesch W, Bauer P, Schöls L. Hengel H, et al. Among authors: deigendesch w. Eur J Med Genet. 2019 Nov;62(11):103582. doi: 10.1016/j.ejmg.2018.11.016. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472486
Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L. Hengel H, et al. Among authors: deigendesch w. Eur J Hum Genet. 2022 Feb;30(2):248. doi: 10.1038/s41431-021-00909-7. Eur J Hum Genet. 2022. PMID: 34050322 Free PMC article. No abstract available.
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L. Hengel H, et al. Among authors: deigendesch w. Eur J Hum Genet. 2020 Aug;28(8):1034-1043. doi: 10.1038/s41431-020-0609-9. Epub 2020 Mar 25. Eur J Hum Genet. 2020. PMID: 32214227 Free PMC article.
Immunogenicity of a combination vaccine containing diphtheria toxoid, tetanus toxoid, three-component acellular pertussis, hepatitis B, inactivated polio virus, and Haemophilus influenzae type b when given concomitantly with 13-valent pneumococcal conjugate vaccine.
Gimenez-Sanchez F, Kieninger DM, Kueper K, Martinon-Torres F, Bernaola E, Diez-Domingo J, Steul K, Juergens C, Gurtman A, Giardina P, Liang JZ, Gruber WC, Emini EA, Scott DA; 501 and 006 study groups. Gimenez-Sanchez F, et al. Vaccine. 2011 Aug 11;29(35):6042-8. doi: 10.1016/j.vaccine.2011.06.026. Epub 2011 Jun 23. Vaccine. 2011. PMID: 21704105 Clinical Trial.
Safety, tolerability, and immunologic noninferiority of a 13-valent pneumococcal conjugate vaccine compared to a 7-valent pneumococcal conjugate vaccine given with routine pediatric vaccinations in Germany.
Kieninger DM, Kueper K, Steul K, Juergens C, Ahlers N, Baker S, Jansen KU, Devlin C, Gruber WC, Emini EA, Scott DA; 006 study group. Kieninger DM, et al. Vaccine. 2010 Jun 7;28(25):4192-203. doi: 10.1016/j.vaccine.2010.04.008. Epub 2010 Apr 22. Vaccine. 2010. PMID: 20417262 Clinical Trial.