Outstanding Publications

Selection of the most noteworthy publications by faculty members from 2006 to the present.

Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation.

6. 3. 2020

Lukes J Jr, Danek P, Alejo-Valle O, Potuckova E, Gahura O, Heckl D, Starkova J, Stary J, Mejstrikova E, Alberich-Jorda M, Zuna J, Trka J, Klusmann JH, Zaliova M. Leukemia. 2020 Feb 24. doi: 10.1038/s41375-020-0769-1. IF: 9.679

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.

20. 2. 2020

Sumerauer D, Krskova L, Vicha A, Misove A, Mamatjan Y, Jencova P, Vlckova M, Slamova L, Vanova K, Liby P, Taborsky J, Koblizek M, Klubal R, Kyncl M, Zadeh G, Stary J, Zamecnik J, Ramaswamy V, Zapotocky M. Acta Neuropathol. 2020 Jan 3. doi: 10.1007/s00401-019-02118-5. IF:18.174

Gentamicin 240 mg plus azithromycin 2 g vs. ceftriaxone 500 mg plus azithromycin 2 g for treatment of rectal and pharyngeal gonorrhoea: a randomized controlled trial

19. 2. 2020

Rob F, Klubalová B, Nyčová E, Hercogová J, Unemo M. Clin Microbiol Infect. 2020 Feb;26(2):207-212. doi: 10.1016/j.cmi.2019.08.004. Epub 2019 Aug 14. IF: 6.425

Human gut microbiota transferred to germ-free NOD mice modulate the progression towards type 1 diabetes regardless of the pace of beta cell function loss in the donor.

20. 12. 2019

Neuman V, Cinek O, Funda DP, Hudcovic T, Golias J, Kramna L, Petruzelkova L, Pruhova S, Sumnik Z. Diabetologia. 2019 Jul;62(7):1291-1296. doi: 10.1007/s00125-019-4869-2. Epub 2019 Apr 25. IF: 7.113

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

27. 11. 2019

Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E. Frontiers in Immunology. 2019 Sep 18. IF: 4.716

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.

27. 11. 2019

Plachy L, Strakova V, Elblova L, Obermannova B, Kolouskova S, Snajderova M, Zemkova D, Dusatkova P, Sumnik Z, Lebl J, Pruhova S. The Journal of Clinical Endocrinology & Metabolism. 2019 Oct 1. IF: 5.605

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Outstanding Publications

Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation.

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.

Gentamicin 240 mg plus azithromycin 2 g vs. ceftriaxone 500 mg plus azithromycin 2 g for treatment of rectal and pharyngeal gonorrhoea: a randomized controlled trial

Human gut microbiota transferred to germ-free NOD mice modulate the progression towards type 1 diabetes regardless of the pace of beta cell function loss in the donor.

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.

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Outstanding Publications

Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation.

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.

Gentamicin 240 mg plus azithromycin 2 g vs. ceftriaxone 500 mg plus azithromycin 2 g for treatment of rectal and pharyngeal gonorrhoea: a randomized controlled trial

Human gut microbiota transferred to germ-free NOD mice modulate the progression towards type 1 diabetes regardless of the pace of beta cell function loss in the donor.

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.