Výpis publikací

NAVRKALOVÁ, Veronika, Karla PLEVOVÁ, Lenka RADOVÁ, Jakub Paweł PORC, Karol PÁL, Jitka MALČÍKOVÁ, Šárka PAVLOVÁ, Michael DOUBEK, Anna PANOVSKÁ, Jana KOTAŠKOVÁ a Šárka POSPÍŠILOVÁ. Integrative NGS testing reveals clonal dynamics of adverse genomic defects contributing to a natural progression in treatment-naïve CLL patients. British journal of haematology. Hoboken: Wiley-Blackwell, 2024, roč. 204, č. 1, s. 240-249. ISSN 0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.19191.

VÁŇOVÁ, Tereza, Jiří SEDMÍK, Jan RAŠKA, Kateřina AMRUZ ČERNÁ, Petr TAUŠ, Veronika POSPÍŠILOVÁ, Markéta NEZVEDOVÁ, Veronika FEDOROVÁ, Soňa KADÁKOVÁ, Hana KLÍMOVÁ, Michaela CAPANDOVÁ, Petra ORVISKÁ, Petr FOJTÍK, Simona BÁRTOVÁ, Karla PLEVOVÁ, Zdeněk SPÁČIL, Hana HŘÍBKOVÁ a Dáša BOHAČIAKOVÁ. Cerebral organoids derived from patients with Alzheimer´s disease with PSEN1/2 mutations have defective tissue patterning and altered development. CELL REPORTS. CAMBRIDGE: CELL PRESS, 2023, roč. 42, č. 11, s. 1-27. ISSN 2211-1247. Dostupné z: https://dx.doi.org/10.1016/j.celrep.2023.113310.

MANČÍKOVÁ, Veronika, Michaela PEŠOVÁ, Šárka PAVLOVÁ, Robert HELMA, Kristýna ZÁVACKÁ, Václav HEJRET, Petr TAUŠ, Jakub HYNŠT, Karla PLEVOVÁ, Jitka MALČÍKOVÁ a Šárka POSPÍŠILOVÁ. Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage. MOLECULAR ONCOLOGY. ENGLAND: WILEY, 2023, roč. 17, č. 1, s. 82-97. ISSN 1574-7891. Dostupné z: https://dx.doi.org/10.1002/1878-0261.13337.

TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Lenka RADOVÁ, Veronika BERGEROVÁ, Soňa MEJSTŘÍKOVÁ, Věra HOŘÍNOVÁ, Radim JANČÁLEK, Šárka POSPÍŠILOVÁ a Michael DOUBEK. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. Molecular Syndromology. Basel: S. Karger, 2023, roč. 14, č. 5, s. 439-448. ISSN 1661-8769. Dostupné z: https://dx.doi.org/10.1159/000528744.

ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ, Radim MAZANEC, Stanislav VOHÁŇKA, Andrea GŘEGOŘOVÁ, Martina LANGOVÁ, Tomáš HONZÍK, Jana ŠOUKALOVÁ, Hana OŠLEJŠKOVÁ, Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ a Lenka FAJKUSOVÁ. Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical Genetics. Hoboken: Wiley, 2023, roč. 104, č. 5, s. 542-553. ISSN 0009-9163. Dostupné z: https://dx.doi.org/10.1111/cge.14407.

DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ a Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. MULTIDISCIPLINARY RESPIRATORY MEDICINE. PAVIA: PAGEPRESS PUBL, 2023, roč. 18, June 2023, s. 1-5. ISSN 1828-695X. Dostupné z: https://dx.doi.org/10.4081/mrm.2023.909.

KENNEDY, Vanessa E, Cecelia PERKINS, Andreas REITER, Mohamad JAWHAR, Johannes LUEBKE, Hanneke C KLUIN-NELEMANS, William SHOMALI, Cheryl LANGFORD, Justin ABUEL, Olivier HERMINE, Marek NIEDOSZYTKO, Aleksandra GORSKA, Andrzej MITAL, Patrizia BONADONNA, Roberta ZANOTTI, Ilaria TANASI, Mattias MATTSSON, Hans HAGGLUND, Massimo TRIGGIANI, Akif Selim YAVUZ, Jens PANSE, Deborah CHRISTEN, Marc HEIZMANN, Khalid SHOUMARIYEH, Sabine MUELLER, Chiara ELENA, Luca MALCOVATI, Nicolas FIORELLI, Friederike WORTMANN, Vladan VUCINIC, Knut BROCKOW, Christos FOKOLOROS, Sotirios G PAPAGEORGIOU, Christine BREYNAERT, Dominique BULLENS, Michael DOUBEK, Anja ILERHAUS, Irena ANGELOVA-FISCHER, Oleksii SOLOMIANYI, Judit VARKONYI, Vito SABATO, Axel RUEFER, Tanja Daniela SCHUG, Maud A W HERMANS, Anna Belloni FORTINA, Francesca CAROPPO, Horia BUMBEA, Theo GULEN, Karin HARTMANN, Hanneke Oude ELBERINK, Juliana SCHWAAB, Michel AROCK, Peter VALENT, Wolfgang R SPERR a Jason GOTLIB. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry. Blood advances. AMSTERDAM: ELSEVIER, 2023, roč. 7, č. 9, s. 1713-1724. ISSN 2473-9529. Dostupné z: https://dx.doi.org/10.1182/bloodadvances.2022008292.

PROKOPH, Nina, Jamie D MATTHEWS, Ricky M TRIGG, Ivonne A MONTES-MOJARRO, G A Amos BURKE, Falko FEND, Olaf MERKEL, Lukas KENNER, Birgit GEOERGER, Robert JOHNSTON, Matthew J MURRAY, Charlotte RIGUAD, Laurence BRUGIERES a Suzanne Dawn TURNER. Patient-derived xenograft models of ALK plus ALCL reveal preclinical promise for therapy with brigatinib. British journal of haematology. Hoboken: Wiley-Blackwell, 2023, roč. 20, č. 5, s. 985-994. ISSN 0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.18953.

LUEBKE, Johannes, Juliana SCHWAAB, Deborah CHRISTEN, Hanneke Oude ELBERINK, Bart SPAN, Marek NIEDOSZYTKO, Aleksandra GORSKA, Magdalena LANGE, Karoline V GLEIXNER, Emir HADZIJUSUFOVIC, Oleksii SOLOMIANYI, Irena ANGELOVA-FISCHER, Roberta ZANOTTI, Massimiliano BONIFACIO, Patrizia BONADONNA, Khalid SHOUMARIYEH, von Bubnoff NIKOLAS, Sabine MUELLER, Cecelia PERKINS, Chiara ELENA, Luca MALCOVATI, Hans HAGGLUND, Mattias MATTSSON, Roberta PARENTE, Judit VARKONYI, Anna Belloni FORTINA, Francesca CAROPPO, Alexander ZINK, Knut BROCKOW, Christine BREYNAERT, Dominique BULLENS, Akif Selim YAVUZ, Michael DOUBEK, Vito SABATO, Tanja SCHUG, Dietger NIEDERWIESER, Karin HARTMANN, Massimo TRIGGIANI, Jason GOTLIB, Olivier HERMINE, Michel AROCK, Hanneke C KLUIN-NELEMANS, Jens PANSE, Wolfgang R SPERR, Peter VALENT, Andreas REITER a Mohamad JAWHAR. Prognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE. AMSTERDAM: ELSEVIER, 2023, roč. 11, č. 2, s. 581-595. ISSN 2213-2198. Dostupné z: https://dx.doi.org/10.1016/j.jaip.2022.10.051.

PROCHÁZKOVÁ, Dagmar, Romana BORSKÁ, Petr CHRASTINA, Lenka FAJKUSOVÁ, Petra KONEČNÁ, Kateřina SLABÁ, Jan ŠENKYŘÍK, Karolína PEŠKOVÁ, Petr JABANDŽIEV a Tomáš HONZÍK. První český pacient s deficitem aminoacylázy 1. CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE. CZECH REPUBLIC: CZECH MEDICAL SOC, 2023, roč. 86, č. 1, s. 83-85. ISSN 1210-7859. Dostupné z: https://dx.doi.org/10.48095/cccsnn202383.

PENCIK, Jan, Cecile PHILIPPE, Michaela SCHLEDERER, Emine ATAS, Matteo PECORARO, Sandra GRUND-GROESCHKE, Wen LI, Amanda TRACZ, Isabel HEIDEGGER, Sabine LAGGER, Karolína TRACHTOVÁ, Monika OBERHUBER, Ellen HEITZER, Osman AKSOY, Heidi A NEUBAUER, Bettina WINGELHOFER, Anna ORLOVA, Nadine WITZENEDER, Thomas DILLINGER, Elisa REDL, Georg GREINER, Andrea DAVID, Johnny R OSTMAN, Simone TANGERMANN, Ivana HERMANOVA, Georg SCHAEFER, Felix STERNBERG, Elena E POHL, Christina STERNBERG, Adam VARADY, Jaqueline HORVATH, Dagmar STOIBER, Tim I MALCOLM, Suzanne Dawn TURNER, Eileen E PARKES, Brigitte HANTUSCH, Gerda EGGER, Stefan ROSE-JOHN, Valeria POLI, Suneil JAIN, Chris W D ARMSTRONG, Gregor HOERMANN, Vincent GOFFIN, Fritz ABERGER, Richard MORIGGL, Arkaitz CARRACEDO, Cathal MCKINNEY, Richard D KENNEDY, Helmut KLOCKER, Michael R SPEICHER, Dean G TANG, Ali A MOAZZAMI, David M HEERY, Marcus HACKER a Lukas KENNER. STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway. Molecular Cancer. LONDON: BioMed Central Ltd, 2023, roč. 22, č. 1, s. 1-25. ISSN 1476-4598. Dostupné z: https://dx.doi.org/10.1186/s12943-023-01825-8.

MASTINI, Cristina, Marco CAMPISI, Enrico PATRUCCO, Giulia MURA, Antonio FERREIRA, Carlotta COSTA, Chiara AMBROGIO, Giulia GERMENA, Cinzia MARTINENGO, Silvia PEOLA, Ines MOTA, Elena VISSIO, Luca MOLINARO, Maddalena ARIGONI, Martina OLIVERO, Raffaele CALOGERO, Nina PROKOPH, Fabrizio TABBO, Brent SHOJI, Laurence BRUGIERES, Birgit GEOERGER, Suzanne Dawn TURNER, Carlos CUESTA-MATEOS, Deborah ALIBERTI, Luca MOLOGNI, Rocco PIAZZA, Carlo GAMBACORTI-PASSERINI, Giorgio G INGHIRAMI, Valeria CHIONO, Roger D KAMM, Emilio HIRSCH, Raphael KOCH, David M WEINSTOCK, Jon C ASTER, Claudia VOENA a Roberto CHIARLE. Targeting CCR7-PI3Kγ overcomes resistance to tyrosine kinase inhibitors in ALK-rearranged lymphoma. Science Translational Medicine. Washington: American Association for the Advancement of Science, 2023, roč. 15, č. 702, s. 1-17. ISSN 1946-6234. Dostupné z: https://dx.doi.org/10.1126/scitranslmed.abo3826.

VISENTIN, Andrea, Thomas CHATZIKONSTANTINOU, Lydia SCARFÒ, Anargyros KAPETANAKIS, Christos DEMOSTHENOUS, Georgios KARAKATSOULIS, Eva MINGA, Dimitra CHAMOU, David ALLSUP, Alejandro Alonso CABRERO, Martin ANDRES, Darko ANTIC, Mónica BAILE, Panagiotis BALIAKAS, Sotiria BESIKLI-DIMOU, Dominique BRON, Sofia CHATZILEONTIADOU, Raul CORDOBA, Correa JUAN-GONZALO, Carolina CUÉLLAR-GARCÍA, Lorenzo De PAOLI, Maria Rosaria De PAOLIS, Julio DELGADO, Maria DIMOU, David DONALDSON, Mark CATHERWOOD, Michael DOUBEK, Maria EFSTATHOPOULOU, Barbara EICHHORST, Salma ELASHWAH, Alicia ENRICO, Blanca ESPINET, Lucia FARINA, Angela FERRARI, Myriam FOGLIETTA, Henrik FREDERIKSEN, Moritz FÜRSTENAU, José A GARCÍA-MARCO, Rocío GARCÍA-SERRA, Rosa COLLADO, Massimo GENTILE, Eva GIMENO, Andreas GLENTHØJ, Maria Gomes da SILVA, Yervand K HAKOBYAN, Yair HERISHANU, José Ángel HERNÁNDEZ-RIVAS, Tobias HEROLD, Idanna INNOCENTI, Gilad ITCHAKI, Ozren JAKSIC, Ann JANSSENS, Оlga B KALASHNIKOVA, Elżbieta KALICIŃSKA, Arnon P KATER, Sabina KERSTING, Jorge LABRADOR, Deepesh LAD, Luca LAURENTI, Levin MARK-DAVID, Enrico LISTA, Alberto LOPEZ-GARCIA, Lara MALERBA, Roberto MARASCA, Monia MARCHETTI, Juan MARQUET, Mattias MATTSSON, Francesca R MAURO, Marta MORAWSKA, Marina MOTTA, Talha MUNIR, Roberta MURRU, Carsten U NIEMANN, Raquel Nunes RODRIGUES, Jacopo OLIVIERI, Lorella ORSUCCI, Maria PAPAIOANNOU, Miguel Arturo PAVLOVSKY, Inga PISKUNOVA, Viola Maria POPOV, Francesca Maria QUAGLIA, Giulia QUARESMINI, Kristian QVIST, Gian Matteo RIGOLIN, Rosa RUCHLEMER, Martin ŠIMKOVIČ, Martin ŠPAČEK, Paolo SPORTOLETTI, Oana STANCA, Tamar TADMOR, Antonella CAPASSO, Giovanni Del POETA, Odit GUTWEIN, Linda Katharina KARLSSON, Ivana MILOSEVIC, Fatima MIRÁS, Gianluigi REDA, Gevorg SAGHUMYAN, Amit SHRESTHA, Doreen Te RAA, Sanne H TONINO, Ellen Van Der SPEK, Michel van GELDER, Roel van KAMPEN, Ewa WASIK-SZCZEPANEK, Tomasz WRÓBEL, Lucrecia Yáñez San SEGUNDO, Mohamed YASSIN, Barbara POCALI, Elisabeth VANDENBERGHE, Sunil IYENGAR, Marzia VARETTONI, Candida VITALE, Marta COSCIA, Alessandro RAMBALDI, Emili MONTSERRAT, Antonio CUNEO, Niki STAVROYIANNI, Livio TRENTIN, Kostas STAMATOPOULOS a Paolo GHIA. The evolving landscape of COVID-19 and post-COVID condition in patients with chronic lymphocytic leukemia: A study by ERIC, the European research initiative on CLL. American Journal of Hematology. Hoboken: Wiley-Blackwell, 2023, roč. 98, č. 12, s. 1856-1868. ISSN 0361-8609. Dostupné z: https://dx.doi.org/10.1002/ajh.27093.

SLABÁ, Kateřina, Marta JEŽOVÁ, Petra POKORNÁ, Hana PÁLOVÁ, Jana TUČKOVÁ, Jan PAPEŽ, Dagmar PROCHÁZKOVÁ, Petr JABANDŽIEV a Ondřej SLABÝ. Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? MOLECULAR GENETICS & GENOMIC MEDICINE. Hoboken: Wiley, 2023, roč. 11, č. 5, s. 1-7. ISSN 2324-9269. Dostupné z: https://dx.doi.org/10.1002/mgg3.2139.

KLINCOVÁ, Martina, Dagmar ŠTĚPÁNKOVÁ, Ivana SCHRÖDEROVÁ, Eva KLABUSAYOVÁ, Edita OŠŤÁDALOVÁ, Iveta VALÁŠKOVÁ, Lenka FAJKUSOVÁ, Jana ZÍDKOVÁ, Renata GAILLYOVÁ a Petr ŠTOURAČ. 20 let diagnostiky maligní hypertermie v České a Slovenské republice. ANESTEZIOLOGIE A INTENZIVNI MEDICINA. CZECH REPUBLIC: NAKLADATELSKE STREDISKO C L S J E PURKYNE, 2023, roč. 34, č. 3, s. 103-109. ISSN 1214-2158. Dostupné z: https://dx.doi.org/10.36290/aim.2023.045.

SKALNÍKOVÁ, Magdalena, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Lenka RADOVÁ, Kamila RÉBLOVÁ, Radka HOLBOVÁ, Terézia KURUCOVÁ, Hana SVOZILOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Barbara DVOŘÁČKOVÁ, Marie PRUDKOVÁ, Olga STEHLÍKOVÁ, Michal ŠMÍDA, Leoš KŘEN, Petr SMEJKAL, Šárka POSPÍŠILOVÁ a Michael DOUBEK. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2022, roč. 23, č. 2, s. 1-13. ISSN 1422-0067. Dostupné z: https://dx.doi.org/10.3390/ijms23020885.

DOLINA, Jiří, Lumír KUNOVSKÝ, Radek KROUPA, Karel STARÝ, Petr JABANDŽIEV, Tereza NEŠPOROVÁ, Karel MÁCA, Tomáš ANDRAŠINA, Filip MAREK, Zdeněk KALA, Jitka VACULOVÁ, Dávid SAID, Martina ZAPLETALOVÁ, Jan LOCHMAN, Hana PÁLOVÁ, Ondřej SLABÝ, Lydie IZAKOVIČOVÁ HOLLÁ a Petra BOŘILOVÁ LINHARTOVÁ. Achalasia and acromegaly: co-incidence of these diseases or a new syndrome? Biomedical Papers. Olomouc: Palacký University Olomouc, Faculty of Medicine and Dentistry, 2022, roč. 166, č. 2, s. 228-235. ISSN 1213-8118. Dostupné z: https://dx.doi.org/10.5507/bp.2021.040.

VOSO, Maria-Teresa, Tatjana PANDZIC, Giulia FALCONI, Marija DENCIC-FEKETE, De Bellis ELEONORA, Lydia SCARFO, Viktor LJUNGSTROM, Michail ISKAS, Del Poeta GIOVANNI, Pamela RANGHETTI, Stamatia LAIDOU, Antonio CRISTIANO, Karla PLEVOVÁ, Silvia IMBERGAMO, Marie ENGVALL, Antonella ZUCCHETTO, Chiara SALVETTI, Francesca R MAURO, Niki STAVROYIANNI, Lucia CAVELIER, Paolo GHIA, Kostas STAMATOPOULOS, Emiliano FABIANI a Panagiotis BALIAKAS. Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy. British journal of haematology. England: Wiley-Blackwell, 2022, roč. 198, č. 1, s. 103-113. ISSN 0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.18129.

BALIAKAS, Panagiotis, Blanca ESPINET, Clemens MELLINK, Marie JAROŠOVÁ, Anastasia ATHANASIADOU, Paolo GHIA, Arnon P KATER, David OSCIER, Claudia HAFERLACH a Kostas STAMATOPOULOS. Cytogenetics in Chronic Lymphocytic Leukemia: ERIC Perspectives and Recommendations. HemaSphere. Philadelphia: Lippincott Williams & Wilkins, 2022, roč. 6, č. 4, s. 1-7. ISSN 2572-9241. Dostupné z: https://dx.doi.org/10.1097/HS9.0000000000000707.

ONDROUŠKOVÁ, Eva, Michaela BOHÚNOVÁ, Kristýna ZÁVACKÁ, Patrik ČECH, Petra ŠMUHAŘOVÁ, Miroslav BOUDNÝ, Martina ORŠULOVÁ, Anna PANOVSKÁ, Lenka RADOVÁ, Michael DOUBEK, Karla PLEVOVÁ a Marie JAROŠOVÁ. Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2022, roč. 12, June 2022, s. 1-11. ISSN 2234-943X. Dostupné z: https://dx.doi.org/10.3389/fonc.2022.859618.

OLBERTOVÁ, Helena, Karla PLEVOVÁ, Šárka PAVLOVÁ, Jitka MALCIKOVA, Jana KOTAŠKOVÁ, Kamila STRÁNSKÁ, Michaela ŠPUNAROVÁ, Martin TRBUŠEK, Veronika NAVRKALOVÁ, Barbara DVOŘÁČKOVÁ, Nikola TOM, Karol PÁL, Marie JAROŠOVÁ, Yvona BRYCHTOVÁ, Anna PANOVSKÁ, Michael DOUBEK a Šárka POSPÍŠILOVÁ. Evolution of TP53 abnormalities during CLL disease course is associated with telomere length changes. BMC Cancer. London: BMC, 2022, roč. 22, č. 1, s. 1-11. ISSN 1471-2407. Dostupné z: https://dx.doi.org/10.1186/s12885-022-09221-z.

KAUFMAN, Matthew, Xiao-Jie YAN, Wentian LI, Emanuela M GHIA, Anton W LANGERAK, Laura Z RASSENTI, Chrysoula BELESSI, Neil E KAY, Frederic DAVI, John C BYRD, Šárka POSPÍŠILOVÁ, Jennifer R BROWN, Mark CATHERWOOD, Zadie DAVIS, David OSCIER, Marco MONTILLO, Livio TRENTIN, Richard ROSENQUIST, Paolo GHIA, Jacqueline C BARRIENTOS, Jonathan E KOLITZ, Steven L ALLEN, Kanti R RAI, Kostas STAMATOPOULOS, Thomas J KIPPS, Donna NEUBERG a Nicholas CHIORAZZI. Impact of the Types and Relative Quantities of IGHV Gene Mutations in Predicting Prognosis of Patients With Chronic Lymphocytic Leukemia. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2022, roč. 12, July 2022, s. 1-12. ISSN 2234-943X. Dostupné z: https://dx.doi.org/10.3389/fonc.2022.897280.

POPPOVÁ, Lucie, Šárka PAVLOVÁ, Beatriz GONZALEZ, Jana KOTAŠKOVÁ, Karla PLEVOVÁ, Gabrijela DUMBOVIC, Pavlína JANOVSKÁ, Vojtěch BYSTRÝ, Anna PANOVSKÁ, Lucie BEZDĚKOVÁ, Stanislava MAŠLEJOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Marcela KRZYŽÁNKOVÁ, Marek BORSKÝ, Jiří MAYER, Vítězslav BRYJA, Sergio ALONSO a Šárka POSPÍŠILOVÁ. Memory B-cell like chronic lymphocytic leukaemia is associated with specific methylation profile of WNT5A promoter and undetectable expression of WNT5A gene. Epigenetics. Philadelphia: TAYLOR & FRANCIS INC, 2022, roč. 17, č. 12, s. 1628-1635. ISSN 1559-2294. Dostupné z: https://dx.doi.org/10.1080/15592294.2022.2050004.

HORÁK, Ondřej, Martina BUREŠOVÁ, Senad KOLÁŘ, Klára ŠPANĚLOVÁ, Barbora JEŘÁBKOVÁ, Renata GAILLYOVÁ, Katarína ČESKÁ, Kamila RÉBLOVÁ, Jana ŠOUKALOVÁ, Jana ZÍDKOVÁ, Lenka FAJKUSOVÁ, Hana OŠLEJŠKOVÁ, Ivan REKTOR a Pavlína DANHOFER. Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation. EPILEPSY & BEHAVIOR. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE, 2022, roč. 128, March 2022, s. 1-6. ISSN 1525-5050. Dostupné z: https://dx.doi.org/10.1016/j.yebeh.2022.108564.

ZANOTTI, R., M. BONIFACIO, G. LUCCHINI, W. R. SPERR, L. SCAFFIDI, B. VAN ANROOIJ, H. N. C. O. ELBERINK, J. ROSSIGNOL, O. HERMINE, A. GORSKA, M. LANGE, E. HADZIJUSUFOVIC, C. MIETHING, S. MULLER, C. PERKINS, W. SHOMALI, C. ELENA, A. ILLERHAUS, M. JAWHAR, R. PARENTE, F. CAROPPO, O. SOLOMIANYI, A. ZINK, M. MATTSSON, A. S. YAVUZ, J. PANSE, J. VARKONYI, Michael DOUBEK, V. SABATO, C. BREYNAERT, V. VUCINIC, T. SCHUG, H. HAGGLUND, F. WORTMANN, K. BROCKOW, I. ANGELOVA-FISCHER, A. B. FORTINA, M. TRIGGIANI, A. REITER, K. HARTMANN, L. MALCOVATI, J. GOTLIB, K. SHOUMARIYEH, M. NIEDOSZYTKO, M. AROCK, H. C. KLUIN-NELEMANS, P. BONADONNA a P. VALENT. Refined diagnostic criteria for bone marrow mastocytosis: a proposal of the European competence network on mastocytosis. Leukemia. London: Nature Publishing Group, 2022, roč. 36, č. 2, s. 516-524. ISSN 0887-6924. Dostupné z: https://dx.doi.org/10.1038/s41375-021-01406-y.

JAROUŠEK, Radim, Antónia MIKULOVÁ, Petra DAĎOVÁ, Petr TAUŠ, Terézia KURUCOVÁ, Karla PLEVOVÁ, Boris TICHÝ a Lukáš KUBALA. Single-cell RNA sequencing analysis of T helper cell differentiation and heterogeneity. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. Elsevier B.V., 2022, roč. 1869, č. 10, s. 1-17. ISSN 0167-4889. Dostupné z: https://dx.doi.org/10.1016/j.bbamcr.2022.119321.

URAZBAKHTIN, Shamil, Anastasia SMIRNOVA, Anastasiya VOLAKHAVA, Elena ZERKALENKOVA, Maria SALYUTINA, Michael DOUBEK, Hana JELINKOVA, Nelly KHUDAINAZAROVA, Egor VOLCHKOV, Laima BELYAEVA, Ekaterina KOMECH, Šárka PAVLOVÁ, Yuri LEBEDEV, Karla PLEVOVÁ, Yulia OLSHANSKAYA, Alexander KOMKOV a Ilgar MAMEDOV. The Absence of Retroelement Activity Is Characteristic for Childhood Acute Leukemias and Adult Acute Lymphoblastic Leukemia. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2022, roč. 23, č. 3, s. 1756-1768. ISSN 1422-0067. Dostupné z: https://dx.doi.org/10.3390/ijms23031756.

DREYLING, Martin, Marc ANDRE, Nicola GOKBUGET, Herve TILLY, Mats JERKEMAN, John GRIBBEN, Andres FERRERI, Pierre MOREL, Stephan STILGENBAUER, Christopher FOX, Maria Ribera JOSE, Sonja ZWEEGMAN, Igor AURER, Csaba BODOR, Birgit BURKHARDT, Christian BUSKE, Dollores Caballero MARIA, Elias CAMPO, Bjoern CHAPUY, Andrew DAVIES, de Leval LAURENCE, Jeanette DOORDUIJN, Massimo FEDERICO, Philippe GAULARD, Francesca GAY, Paolo GHIA, Kirsten GRONBAEK, Hartmut GOLDSCHMIDT, Marie-Jose KERSTEN, Barbara KIESEWETTER, Judith LANDMAN-PARKER, Le Gouill STEVEN, Georg LENZ, Sirpa LEPPA, Armando LOPEZ-GUILLERMO, Elizabeth MACINTYRE, Maria Victoria Mateos MANTEGA, Philippe MOREAU, Carol MORENO, Bertrand NADEL, Jessica OKOSUN, Roger OWEN, Šárka POSPÍŠILOVÁ, Christiane POTT, Tadeusz ROBAK, Michelle SPINA, Kostas STAMATOPOULOS, Jan STARY, Karin TARTE, Allessandra TEDESCHI, Catherine THIEBLEMONT, Ralf Ulrich TRAPPE, Lorenz H TRUMPER a Gilles SALLES. The EHA Research Roadmap: Malignant Lymphoid Diseases. HemaSphere. Philadelphia: Lippincott Williams & Wilkins, 2022, roč. 6, č. 6, s. 1-18. ISSN 2572-9241. Dostupné z: https://dx.doi.org/10.1097/HS9.0000000000000726.

ANTIC, Darko, Natasa MILIC, Thomas CHATZIKONSTANTINOU, Lydia SCARFO, Vladimir OTASEVIC, Nina RAJOVIC, David ALLSUP, Alejandro Alonso CABRERO, Martin ANDRES, Monica Baile GONZALES, Antonella CAPASSO, Rosa COLLADO, Raul CORDOBA, Carolina CUELLAR-GARCIA, Juan Gonzalo CORREA, De Paoli LORENZO, De Paolis Maria ROSARIA, Del Poeta GIOVANNI, Maria DIMOU, Michael DOUBEK, Maria EFSTATHOPOULOU, Shaimaa EL-ASHWAH, Alicia ENRICO, Blanca ESPINET, Lucia FARINA, Angela FERRARI, Myriam FOGLIETTA, Alberto LOPEZ-GARCIA, Jose A GARCIA-MARCO, Rocio GARCIA-SERRA, Massimo GENTILE, Eva GIMENO, da Silva Maria GOMES, Odit GUTWEIN, Yervand K HAKOBYAN, Yair HERISHANU, Jose Angel HERNANDEZ-RIVAS, Tobias HEROLD, Gilad ITCHAKI, Ozren JAKSIC, Ann JANSSENS, Olga B KALASHNIKOVA, Elzbieta KALICINSKA, Arnon P KATER, Sabina KERSTING, Maya KOREN-MICHOWITZ, Jorge LABRADOR, Deepesh LAD, Luca LAURENTI, Alberto FRESA, Mark-David LEVIN, Carlota Mayor BASTIDA, Lara MALERBA, Roberto MARASCA, Monia MARCHETTI, Juan MARQUET, Biljana MIHALJEVIC, Ivana MILOSEVIC, Fatima MIRAS, Marta MORAWSKA, Marina MOTTA, Talha MUNIR, Roberta MURRU, Raquel NUNES, Jacopo OLIVIERI, Miguel Arturo PAVLOVSKY, Inga PISKUNOVA, Viola Maria POPOV, Francesca Maria QUAGLIA, Giulia QUARESMINI, Gianluigi REDA, Gian Matteo RIGOLIN, Amit SHRESTHA, Martin SIMKOVIC, Svetlana SMIRNOVA, Martin SPACEK, Paolo SPORTOLETTI, Oana STANCA, Niki STAVROYIANNI, Te Raa DOREEN, Kristina TOMIC, Sanne TONINO, Livio TRENTIN, Van der Spek ELLEN, van Gelder MICHEL, Marzia VARETTONI, Andrea VISENTIN, Candida VITALE, Vojin VUKOVIC, Ewa WASIK-SZCZEPANEK, Tomasz WROBEL, San Segundo Lucrecia YANEZ, Mohamed YASSIN, Marta COSCIA, Alessandro RAMBALDI, Emili MONTSERRAT, Robin FOA, Antonio CUNEO, Marc CARRIER, Paolo GHIA a Kostas STAMATOPOULOS. Thrombotic and bleeding complications in patients with chronic lymphocytic leukemia and severe COVID-19: a study of ERIC, the European Research Initiative on CLL. JOURNAL OF HEMATOLOGY & ONCOLOGY. LONDON: BMC, 2022, roč. 15, č. 1, s. 1-13. ISSN 1756-8722. Dostupné z: https://dx.doi.org/10.1186/s13045-022-01333-0.

ARPÁŠ, Tomáš, Hana JELÍNKOVÁ, Štěpán HRABOVSKÝ, Martina ORŠULOVÁ, Zuzana VRZALOVÁ, Veronika NAVRKALOVÁ, Eva BRHELOVÁ, Lenka BRYJOVÁ, Alena BULIKOVÁ, Eva ONDROUŠKOVÁ, Markéta ŠEJNOHOVÁ, František FOLBER, Petra ŠEDOVÁ, Jiří MAYER, Šárka POSPÍŠILOVÁ, Marie JAROŠOVÁ a Michael DOUBEK. Very rare near-haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR-T therapy in 19-year-old male patient. CLINICAL CASE REPORTS. ENGLAND: WILEY, 2022, roč. 10, č. 3, s. 1-5. ISSN 2050-0904. Dostupné z: https://dx.doi.org/10.1002/ccr3.5545.

MRÁZKOVÁ, Jana, Petr SISTEK, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Zdeněk DANĚK a Petra BOŘILOVÁ LINHARTOVÁ. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations. Diagnostics. Basel: MDPI, 2021, roč. 11, č. 2, s. 1-17. ISSN 2075-4418. Dostupné z: https://dx.doi.org/10.3390/diagnostics11020301.

FAROLFI, Martina, Anna CECHOVA, Nina ONDRUSKOVA, Jana ZÍDKOVÁ, Bohdan KOUSAL, Hana HANSIKOVA, Tomas HONZIK a Petra LISKOVA. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. BMC OPHTHALMOLOGY. LONDON: BMC, 2021, roč. 21, č. 1, s. 1-7. ISSN 1471-2415. Dostupné z: https://dx.doi.org/10.1186/s12886-021-02013-2.

HYNŠT, Jakub, Veronika NAVRKALOVÁ, Karol PÁL a Šárka POSPÍŠILOVÁ. Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application. PeerJ. London: PEERJ INC, 2021, roč. 9, MAR 2021, s. 1-29. ISSN 2167-8359. Dostupné z: https://dx.doi.org/10.7717/peerj.10897.

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ZEMANOVÁ, Markéta, Petr CHRASTINA, Václav SEBRON, Dagmar PROCHÁZKOVÁ, Helena JAHNOVÁ, Petra SANAKOVA, Lucie PROCHÁZKOVÁ, Barbara TESAŘOVÁ a Jiří ZEMAN. Extremely low birthweight neonates with phenylketonuria require special dietary management. Acta pediatrica. HOBOKEN: Wiley, 2021, roč. 110, č. 11, s. 2994-2999. ISSN 0803-5253. Dostupné z: https://dx.doi.org/10.1111/apa.16035.

ZÁVACKÁ, Kristýna a Karla PLEVOVÁ. Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2021, roč. 11, November 2021, s. 1-9. ISSN 2234-943X. Dostupné z: https://dx.doi.org/10.3389/fonc.2021.771664.

LIPOVÝ, Břetislav, Jakub HOLOUBEK, Marketa HANSLIANOVA, Michaela CVANOVÁ, Leo KLEIN, Ivana GROSSOVA, Robert ZAJICEK, Peter BUKOVCAN, Jan KOLLER, Matus BARAN, Peter LENGYEL, Lukas EIMER, Marie JANDOVA, Milan KOSTAL, Pavel BRYCHTA a Petra BOŘILOVÁ LINHARTOVÁ. Impact of Antibiotics Associated with the Development of Toxic Epidermal Necrolysis on Early and Late-Onset Infectious Complications. Microorganisms. Basel: MDPI, 2021, roč. 9, č. 1, s. 1-15. ISSN 2076-2607. Dostupné z: https://dx.doi.org/10.3390/microorganisms9010202.

SYNKOVÁ, Iva, Markéta BÉBAROVÁ, Irena ANDRŠOVÁ, Larisa CHMELIKOVA, Olga ŠVECOVÁ, Jan HOSEK, Michal PÁSEK, Pavel VÍT, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Rostislav NAVRATIL a Tomáš NOVOTNÝ. Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation. Nature Scientific Reports. London: NATURE RESEARCH, 2021, roč. 11, č. 1, s. 1-13. ISSN 2045-2322. Dostupné z: https://dx.doi.org/10.1038/s41598-021-81670-1.

NAVRKALOVÁ, Veronika, Karla PLEVOVÁ, Jakub HYNŠT, Karol PÁL, Andrea MAREČKOVÁ, Tomáš REIGL, Hana JELÍNKOVÁ, Zuzana VRZALOVÁ, Kamila STRÁNSKÁ, Šárka PAVLOVÁ, Anna PANOVSKÁ, Andrea JANÍKOVÁ, Michael DOUBEK, Jana KOTAŠKOVÁ a Šárka POSPÍŠILOVÁ. LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies. The journal of molecular diagnostics. Bethesda, MD: American Society for Investigative Pathology/Association for Molecular Pathology, 2021, roč. 23, č. 8, s. 959-974. ISSN 1525-1578. Dostupné z: https://dx.doi.org/10.1016/j.jmoldx.2021.05.007.

SLABÁ, Kateřina, Hana PÁLOVÁ, Petra VESELÁ, Štefánia AULICKÁ, Petra KONEČNÁ, Martin ŠTĚRBA, Petr JABANDŽIEV, Ondřej SLABÝ a Dagmar PROCHÁZKOVÁ. Neurovývojová porucha s mentální retardací spojená s genem PPP2R5D - první případ v České republice. Československá neurologie a neurochirurgie. Prague: CZECH MEDICAL SOC, 2021, roč. 84, č. 2, s. 205-207. ISSN 1210-7859. Dostupné z: https://dx.doi.org/10.48095/cccsnn2021205.

NTOUFA, S., M. GEROUSI, S. LAIDOU, F. PSOMOPOULOS, G. TSIOLAS, T. MOYSIADIS, N. PAPAKONSTANTINOU, L. MANSOURI, A. ANAGNOSTOPOULOS, N. STAVROGIANNI, Šárka POSPÍŠILOVÁ, Karla PLEVOVÁ, A.M. MAKRIS, R. ROSENQUIST a K. STAMATOPOULOS. RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia. BLOOD ADVANCES. WASHINGTON: AMER SOC HEMATOLOGY, 2021, roč. 5, č. 13, s. 2788-2792. ISSN 2473-9529. Dostupné z: https://dx.doi.org/10.1182/bloodadvances.2020001717.

VYHNALOVÁ, Tereza, Zdeněk DANĚK, Daniela GACHOVÁ a Petra BOŘILOVÁ LINHARTOVÁ. The Role of the Oral Microbiota in the Etiopathogenesis of Oral Squamous Cell Carcinoma. Microorganisms. Basel: MDPI, 2021, roč. 9, č. 8, s. 1-23. ISSN 2076-2607. Dostupné z: https://dx.doi.org/10.3390/microorganisms9081549.

PROCHÁZKOVÁ, Dagmar, Romana BORSKÁ, Lenka FAJKUSOVÁ, Petra KONEČNÁ, Eliška HLOUŠKOVÁ, Zdeněk PAVLOVSKÝ, Ondřej SLABÝ a Šárka POSPÍŠILOVÁ. Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic. Diagnostics. Basel: MDPI, 2021, roč. 11, č. 6, s. 1-7. ISSN 2075-4418. Dostupné z: https://dx.doi.org/10.3390/diagnostics11060983.

SLABÁ, Kateřina, Hana NOSKOVÁ, Petra VESELÁ, Jana TUČKOVÁ, Hana JIČÍNSKÁ, Tomáš HONZÍK, Hana HANSÍKOVÁ, Petra KLEIBLOVÁ, Petr ŠTOURAČ, Petr JABANDŽIEV, Ondřej SLABÝ a Dagmar PROCHÁZKOVÁ. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. Frontiers in Genetics. Lausanne: Frontiers, 2020, roč. 11, October 2020, s. 1-7. ISSN 1664-8021. Dostupné z: https://dx.doi.org/10.3389/fgene.2020.561054.

SILVA, I. A.L ., Tereza DOUSOVA, S. RAMALHO, R. CENTEIO, L. A. CLARKE, V. RAILEAN, H. M. BOTELHO, Andrea HOLUBOVA, Iveta VALÁŠKOVÁ, J. T. YEH, T. C. HWANG, C. M. FARINHA, K. KUNZELMANN a M. D. AMARAL. Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G. Biochimica et Biophysica Acta - Molecular Basis of Disease. Amsterdam: ELSEVIER SCIENCE BV, 2020, roč. 1866, č. 11, s. 1-10. ISSN 0925-4439. Dostupné z: https://dx.doi.org/10.1016/j.bbadis.2020.165905.

KLUČKA, Jozef, Tomáš JUŘENČÁK, Petr ŠTOURAČ, Pavel VÍT, Vladimíra FORALOVÁ a Iva SYNKOVÁ. Out-of-Hospital Cardiac Arrest Due to Ventricular Fibrillation in a 5-Year-Old Pediatric Patient. PEDIATRIC EMERGENCY CARE. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS, 2020, roč. 36, č. 7, s. "E405"-"E407", 3 s. ISSN 0749-5161. Dostupné z: https://dx.doi.org/10.1097/PEC.0000000000001444.

BOŘILOVÁ LINHARTOVÁ, Petra, Daniela GACHOVÁ a Břetislav LIPOVÝ. Responsiveness to i.v. immunoglobulin therapy in patients with toxic epidermal necrolysis: A novel pharmaco-immunogenetic concept. JOURNAL OF DERMATOLOGY. HOBOKEN: WILEY, 2020, roč. 47, č. 11, s. 1236-1248. ISSN 0385-2407. Dostupné z: https://dx.doi.org/10.1111/1346-8138.15583.