Kiemelten fontos feladatnak tartjuk a kutatási tevékenységet, mely intézetünk esetében azzal a szerencsés helyzetet is párosul, hogy ez a tevékenységünk is több esetben egyben közvetlenül a betegeink érdekeit is szolgálja. Az intézetünkben dolgozó orvosok és biológusok számos területen folytatnak vizsgálatokat, melyek eredményei rendszeresen jelennek meg hazai és nemzetközi szaklapokban. Mintegy két szélső pólusként, a kutatási témakörök magukban foglalják a gyakoribb, nagy populációkat érintő betegségek hajlamosító génjeinek vizsgálata mellett bizonyos ritka betegségek kutatását is. A nagy populációkat érintő betegségek vizsgálata magába foglalja a gyakoribb betegségekben a hajlamosító gének vizsgálata mellett az általános és speciális farmakogenetikai vizsgálatokat is, melyek a közeljövő egyik lehetséges paradigmaváltásának, a personalzed medicine megvalósulásának az előfutárai is egyben. A ritka betegségek terén intézetünk országos központot is jelent. Hazai és nemzetközi kutatástámogatási pályázati aktivitásunk tradicionálisan jelentősen hozzájárul a források előteremtéséhez. A PhD képzésünk a kutatás jelentős bázisát is jelenti egyben.
EUROSCA project
Magyarországról Intézetünk képviseli az EUROSCA nevű EU6 támogatott projectben, mely egy 9 ország 22 munkacsoportja által szervezett konzorcium. Elsődleges célja a spinocerebelláris ataxiák (SCA) diagnosztizálása, kutatása, és az előrehaladás függvényében esetleges elvek és konkrét javaslatok kidolgozása. Intézetünk vezető szerepet játszik az ORPHANET projectben, ami a ritka betegségek speciális hálózata. Úgyszintén részt veszünk az Eurobiobanks EU7 támogatott programban, amihez az intézetben található jelentősebb biobankunk miatt is csatlakoztunk.
Kutatási témák
Kutatási témáink elsődlegesen a klinikai genetika tárgykörébe tartoznak, főként molekuláris jellegűek. Vizsgálataink a genetikai kórképek kialakulásának sejtszintű folyamatait hivatottak feltárni. A genetika mellett a funkcionális kapcsoltság miatt számos területen igyekszünk a genomika-proteomika-metabolomikai tengely irányában is kiterjesztéseket tenni. Mindezek együttesen, kiegészítve a nemzetközi tudásanyaggal, végül is a gyakoribb betegségek és a veleszületett rendellenességek korai felismerését és megelőzését, valamint a már kialakult betegségek patomechanizmusának feltárását, ezen keresztül pedig az esetleges gyógymódok kidolgozását célozzák meg.
Jelenleg a következő fontosabb témákban folytatunk vizsgálatokat, melyekhez örömmel várjuk érdeklődő hallgatók és kollégák csatlakozását:
- Hajlamosító gének: Szív- és érrendszeri betegségek, stroke, véralvadási zavarok, inflammatorikus bélbetegségek,
- Molekuláris farmakogenomika
- Karnitin-metabolizmus
- Centroméra-szétválás rendellenességei
- Transzkripciós faktorok szerepe a klinikai genetikában
- Konstitucionális kromoszóma-szerkezeti eltérések és kromoszomális szöveti mozaikosság vizsgálata
- Gyakori, genetikailag erősen determinált betegségek molekuláris genetikai háttere (Rett- szindróma, SCA-k, tárolási betegségek, a lipid anyagcsere-betegségei, stb.)
- asthma, metabolikus szindróma, egyéb autoimmun betegségek genetikai hátterének vizsgálata
- Mitokondriális-DNS eredetű betegségek
Közlemények (legutóbbi 5 év)
Bunduc S, Gede N, Váncsa S, Lillik V, Kiss S, Juhász MF, Erőss B, Szakács Z, Gheorghe C, Mikó A, Hegyi P. Exosomes as prognostic biomarkers in pancreatic ductal adenocarcinoma-a systematic review and meta-analysis. Transl Res. 2022 Jun;244:126-136. doi: 10.1016/j.trsl.2022.01.001. Epub 2022 Jan 20. PMID: 35066189.
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Indonesia Schizophrenia Consortium; PsychENCODE;Psychosis Endophenotypes International Consortium; SynGO Consortium, AdolfssonR, Arango C, Baune BT, Belangero SI, Børglum AD, Braff D, Bramon E, Buxbaum JD,Campion D, Cervilla JA, Cichon S, Collier DA, Corvin A, Curtis D, Forti MD,Domenici E, Ehrenreich H, Escott-Price V, Esko T, Fanous AH, Gareeva A, GawlikM, Gejman PV, Gill M, Glatt SJ, Golimbet V, Hong KS, Hultman CM, Hyman SE, IwataN, Jönsson EG, Kahn RS, Kennedy JL, Khusnutdinova E, Kirov G, Knowles JA, KrebsMO, Laurent-Levinson C, Lee J, Lencz T, Levinson DF, Li QS, Liu J, Malhotra AK,Malhotra D, McIntosh A, McQuillin A, Menezes PR, Morgan VA, Morris DW, Mowry BJ,Murray RM, Nimgaonkar V, Nöthen MM, Ophoff RA, Paciga SA, Palotie A, Pato CN,Qin S, Rietschel M, Riley BP, Rivera M, Rujescu D, Saka MC, Sanders AR, SchwabSG, Serretti A, Sham PC, Shi Y, St Clair D, Stefánsson H, Stefansson K, TsuangMT, van Os J, Vawter MP, Weinberger DR, Werge T, Wildenauer DB, Yu X, Yue W,Holmans PA, Pocklington AJ, Roussos P, Vassos E, Verhage M, Visscher PM, Yang J,Posthuma D, Andreassen OA, Kendler KS, Owen MJ, Wray NR, Daly MJ, Huang H, NealeBM, Sullivan PF, Ripke S, Walters JTR, O'Donovan MC; Schizophrenia Working Groupof the Psychiatric Genomics Consortium. Mapping genomic loci implicates genesand synaptic biology in schizophrenia. Nature. 2022 Apr;604(7906):502-508. doi:10.1038/s41586-022-04434-5. Epub 2022 Apr 8. PMID: 35396580.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S,Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ,Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, CrawfordTO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V,Díaz-Manera J. Clinical and genetic spectrum of a large cohort of patients withδ-sarcoglycan muscular dystrophy. Brain. 2022 Apr 18;145(2):596-606. doi:10.1093/brain/awab301. PMID: 34515763; PMCID: PMC9014751.
Vástyán A, Maros TB, Sándor-Bajusz KA, Vajda K, Hadzsiev K. Ajak- ésszájpadhasadékkal társult genetikai szindrómás gyermekek komplex ellátása. OrvHetil. 2022 May 22;163(21):826-831. doi: 10.1556/650.2022.32500. PMID: 35598212.
Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A,Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M. Levels ofNeurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar AtaxiaType 1. Neurology. 2022 May 17;98(20):e1985-e1996. doi:10.1212/WNL.0000000000200257. Epub 2022 Mar 9. PMID: 35264424.
Wang CC, Posth C, Furtwängler A, Sümegi K, Bánfai Z, Kásler M, Krause J,Melegh B. Author Correction: Genome-wide autosomal, mtDNA, and Y chromosomeanalysis of King Bela III of the Hungarian Arpad dynasty. Sci Rep. 2022 May3;12(1):7157. doi: 10.1038/s41598-022-11779-4. Erratum for: Sci Rep. 2021 Sep28;11(1):19210. PMID: 35505097; PMCID: PMC9065132.
Ádám V, Bánfai Z, Sümegi K, Büki G, Szabó A, Magyari L, Miseta A, Kásler M,Melegh B. Genome-Wide Marker Data-Based Comparative Population Analysis ofSzeklers From Korond, Transylvania, and From Transylvania Living Non-SzeklerHungarians. Front Genet. 2022 Mar 28;13:841769. doi: 10.3389/fgene.2022.841769.PMID: 35419037; PMCID: PMC9000985.
Maasz A, Hadzsiev K, Ripszam R, Zsigmond A, Maka E, Knezy K, Lesch B, NemethA, Bene J, Galik B, Gyenesei A, Melegh B. TUBB4B gene mutation in Leberphenotype of congenital amaurosis syndrome associated with early-onset deafness.Eur J Med Genet. 2022 Apr;65(4):104471. doi: 10.1016/j.ejmg.2022.104471. Epub2022 Feb 28. PMID: 35240325.
Paneque M, Liehr T, Serra Juhé C, Moog U, Melegh B, Carreira I. The need forrecognition of core professional groups in genetics healthcare services inEurope. Eur J Hum Genet. 2022 Mar 14. doi: 10.1038/s41431-022-01080-3. Epubahead of print. PMID: 35283482.
Effect of frailty on 6-month outcome after traumatic brain injury: a multicentre cohort study with external validation.
Galimberti S, Graziano F, Maas AIR, Isernia G, Lecky F, Jain S, Sun X, Gardner RC, Taylor SR, Markowitz AJ, Manley GT, Valsecchi MG, Bellelli G, Citerio G; CENTER-TBI and TRACK-TBI participants and investigators.
Lancet Neurol. 2022 Feb;21(2):153-162. doi: 10.1016/S1474-4422(21)00374-4.
PMID: 35065038
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia.
Pardiñas AF, Smart SE, Willcocks IR, Holmans PA, Dennison CA, Lynham AJ, Legge SE, Baune BT, Bigdeli TB, Cairns MJ, Corvin A, Fanous AH, Frank J, Kelly B, McQuillin A, Melle I, Mortensen PB, Mowry BJ, Pato CN, Periyasamy S, Rietschel M, Rujescu D, Simonsen C, St Clair D, Tooney P, Wu JQ, Andreassen OA, Kowalec K, Sullivan PF, Murray RM, Owen MJ, MacCabe JH, O'Donovan MC, Walters JTR; Genetics Workstream of the Schizophrenia Treatment Resistance and Therapeutic Advances (STRATA) Consortium and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC), Ajnakina O, Alameda L, Barnes TRE, Berardi D, Bonora E, Camporesi S, Cleusix M, Conus P, Crespo-Facorro B, D'Andrea G, Demjaha A, Do KQ, Doody GA, Eap CB, Ferchiou A, Di Forti M, Guidi L, Homman L, Jenni R, Joyce EM, Kassoumeri L, Khadimallah I, Lastrina O, Muratori R, Noyan H, O'Neill FA, Pignon B, Restellini R, Richard JR, Schürhoff F, Španiel F, Szöke A, Tarricone I, Tortelli A, Üçok A, Vázquez-Bourgon J.
JAMA Psychiatry. 2022 Mar 1;79(3):260-269. doi: 10.1001/jamapsychiatry.2021.3799.
PMID: 35019943 Free PMC article.
Bunduc S, Gede N, Váncsa S, Lillik V, Kiss S, Dembrovszky F, Eróss B, Szakács Z, Gheorghe C, Mikó A, Hegyi P. Prognostic role of cell-free DNA biomarkers in pancreatic adenocarcinoma: A systematic review and meta-analysis. Crit Rev Oncol Hematol. 2022 Jan;169:103548. doi: 10.1016/j.critrevonc.2021.103548. Epub 2021 Nov 26. PMID: 34843928.
Extended Coagulation Profiling in Isolated Traumatic Brain Injury: A CENTER-TBI Analysis.
Böhm JK, Schaeben V, Schäfer N, Güting H, Lefering R, Thorn S, Schöchl H, Zipperle J, Grottke O, Rossaint R, Stanworth S, Curry N, Maegele M; CENTER-TBI Participants and Investigators.
Neurocrit Care. 2021 Dec 16. doi: 10.1007/s12028-021-01400-3. Online ahead of print.
PMID: 34918214
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics.
Eur J Hum Genet. 2021 Dec 17. doi: 10.1038/s41431-021-01000-x. Online ahead of print.
PMID: 34916614 No abstract available.
Can We Cluster ICU Treatment Strategies for Traumatic Brain Injury by Hospital Treatment Preferences?
Ceyisakar IE, Huijben JA, Maas AIR, Lingsma HF, van Leeuwen N; CENTER-TBI participants and investigators.
Neurocrit Care. 2021 Dec 6. doi: 10.1007/s12028-021-01386-y. Online ahead of print.
PMID: 34873673
Questionnaires vs Interviews for the Assessment of Global Functional Outcomes After Traumatic Brain Injury.
Horton L, Rhodes J, Menon DK, Maas AIR, Wilson L; Collaborative European NeuroTrauma Effectiveness Research in TBI (CENTER-TBI) Participants and Investigators.
JAMA Netw Open. 2021 Nov 1;4(11):e2134121. doi: 10.1001/jamanetworkopen.2021.34121.
PMID: 34762111 Free PMC article.
Explaining Outcome Differences between Men and Women following Mild Traumatic Brain Injury.
Mikolic A, Groeniger JO, Zeldovich M, Wilson L, van Lennep JR, van Klaveren D, Polinder S; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Participants and Investigators.
J Neurotrauma. 2021 Dec;38(23):3315-3331. doi: 10.1089/neu.2021.0116.
PMID: 34617454
Genome-wide autosomal, mtDNA, and Y chromosome analysis of King Bela III of the Hungarian Arpad dynasty.
Wang CC, Posth C, Furtwängler A, Sümegi K, Bánfai Z, Kásler M, Krause J, Melegh B.
Sci Rep. 2021 Sep 28;11(1):19210. doi: 10.1038/s41598-021-98796-x.
PMID: 34584164 Free PMC article.
Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.
Kovesdi E, Ripszam R, Postyeni E, Horvath EB, Kelemen A, Fabos B, Farkas V, Hadzsiev K, Sumegi K, Magyari L, Moreno PG, Bauer P, Melegh B.
Genes (Basel). 2021 Sep 10;12(9):1401. doi: 10.3390/genes12091401.
PMID: 34573383 Free PMC article.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, de Augusto Isihi LM, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J.
Brain. 2021 Sep 13:awab301. doi: 10.1093/brain/awab301. Online ahead of print.
PMID: 34515763
Expanded phenotype of AARS1-related white matter disease.
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA.
Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27.
PMID: 34446925
Occurrence and timing of withdrawal of life-sustaining measures in traumatic brain injury patients: a CENTER-TBI study.
van Veen E, van der Jagt M, Citerio G, Stocchetti N, Gommers D, Burdorf A, Menon DK, Maas AIR, Kompanje EJO, Lingsma HF; CENTER-TBI investigators and participants.
Intensive Care Med. 2021 Oct;47(10):1115-1129. doi: 10.1007/s00134-021-06484-1. Epub 2021 Aug 5.
PMID: 34351445 Free PMC article.
Primary versus early secondary referral to a specialized neurotrauma center in patients with moderate/severe traumatic brain injury: a CENTER TBI study.
Sewalt CA, Gravesteijn BY, Menon D, Lingsma HF, Maas AIR, Stocchetti N, Venema E, Lecky FE; CENTER TBI Participants and Investigators.
Scand J Trauma Resusc Emerg Med. 2021 Aug 4;29(1):113. doi: 10.1186/s13049-021-00930-1.
PMID: 34348784 Free PMC article.
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts.
Ni G, Zeng J, Revez JA, Wang Y, Zheng Z, Ge T, Restuadi R, Kiewa J, Nyholt DR, Coleman JRI, Smoller JW; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Yang J, Visscher PM, Wray NR.
Biol Psychiatry. 2021 Nov 1;90(9):611-620. doi: 10.1016/j.biopsych.2021.04.018. Epub 2021 May 4.
PMID: 34304866 Free PMC article.
Fluid balance and outcome in critically ill patients with traumatic brain injury (CENTER-TBI and OzENTER-TBI): a prospective, multicentre, comparative effectiveness study.
Wiegers EJA, Lingsma HF, Huijben JA, Cooper DJ, Citerio G, Frisvold S, Helbok R, Maas AIR, Menon DK, Moore EM, Stocchetti N, Dippel DW, Steyerberg EW, van der Jagt M; CENTER-TBI; OzENTER-TBI Collaboration Groups.
Lancet Neurol. 2021 Aug;20(8):627-638. doi: 10.1016/S1474-4422(21)00162-9.
PMID: 34302787
Management of arterial partial pressure of carbon dioxide in the first week after traumatic brain injury: results from the CENTER-TBI study.
Citerio G, Robba C, Rebora P, Petrosino M, Rossi E, Malgeri L, Stocchetti N, Galimberti S, Menon DK; Center-TBI participants and investigators.
Intensive Care Med. 2021 Sep;47(9):961-973. doi: 10.1007/s00134-021-06470-7. Epub 2021 Jul 24.
PMID: 34302517 Free PMC article.
Pathological Computed Tomography Features Associated With Adverse Outcomes After Mild Traumatic Brain Injury: A TRACK-TBI Study With External Validation in CENTER-TBI.
Yuh EL, Jain S, Sun X, Pisica D, Harris MH, Taylor SR, Markowitz AJ, Mukherjee P, Verheyden J, Giacino JT, Levin HS, McCrea M, Stein MB, Temkin NR, Diaz-Arrastia R, Robertson CS, Lingsma HF, Okonkwo DO, Maas AIR, Manley GT; TRACK-TBI Investigators for the CENTER-TBI Investigators, Adeoye O, Badjatia N, Boase K, Bodien Y, Corrigan JD, Crawford K, Dikmen S, Duhaime AC, Ellenbogen R, Feeser VR, Ferguson AR, Foreman B, Gardner R, Gaudette E, Gonzalez L, Gopinath S, Gullapalli R, Hemphill JC, Hotz G, Keene CD, Kramer J, Kreitzer N, Lindsell C, Machamer J, Madden C, Martin A, McAllister T, Merchant R, Nelson L, Ngwenya LB, Noel F, Nolan A, Palacios E, Perl D, Rabinowitz M, Rosand J, Sander A, Satris G, Schnyer D, Seabury S, Toga A, Valadka A, Vassar M, Zafonte R.
JAMA Neurol. 2021 Sep 1;78(9):1137-1148. doi: 10.1001/jamaneurol.2021.2120.
PMID: 34279565 Free PMC article.
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.
Büki G, Zsigmond A, Czakó M, Szalai R, Antal G, Farkas V, Fekete G, Nagy D, Széll M, Tihanyi M, Melegh B, Hadzsiev K, Bene J.
Front Genet. 2021 Jun 8;12:673025. doi: 10.3389/fgene.2021.673025. eCollection 2021.
PMID: 34168676 Free PMC article.
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.
Blokland GAM, Grove J, Chen CY, Cotsapas C, Tobet S, Handa R; Schizophrenia Working Group of the Psychiatric Genomics Consortium, St Clair D, Lencz T, Mowry BJ, Periyasamy S, Cairns MJ, Tooney PA, Wu JQ, Kelly B, Kirov G, Sullivan PF, Corvin A, Riley BP, Esko T, Milani L, Jönsson EG, Palotie A, Ehrenreich H, Begemann M, Steixner-Kumar A, Sham PC, Iwata N, Weinberger DR, Gejman PV, Sanders AR, Buxbaum JD, Rujescu D, Giegling I, Konte B, Hartmann AM, Bramon E, Murray RM, Pato MT, Lee J, Melle I, Molden E, Ophoff RA, McQuillin A, Bass NJ, Adolfsson R, Malhotra AK; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Martin NG, Fullerton JM, Mitchell PB, Schofield PR, Forstner AJ, Degenhardt F, Schaupp S, Comes AL, Kogevinas M, Guzman-Parra J, Reif A, Streit F, Sirignano L, Cichon S, Grigoroiu-Serbanescu M, Hauser J, Lissowska J, Mayoral F, Müller-Myhsok B, Świątkowska B, Schulze TG, Nöthen MM, Rietschel M, Kelsoe J, Leboyer M, Jamain S, Etain B, Bellivier F, Vincent JB, Alda M, O'Donovan C, Cervantes P, Biernacka JM, Frye M, McElroy SL, Scott LJ, Stahl EA, Landén M, Hamshere ML, Smeland OB, Djurovic S, Vaaler AE, Andreassen OA; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Baune BT, Air T, Preisig M, Uher R, Levinson DF, Weissman MM, Potash JB, Shi J, Knowles JA, Perlis RH, Lucae S, Boomsma DI, Penninx BWJH, Hottenga JJ, de Geus EJC, Willemsen G, Milaneschi Y, Tiemeier H, Grabe HJ, Teumer A, Van der Auwera S, Völker U, Hamilton SP, Magnusson PKE, Viktorin A, Mehta D, Mullins N, Adams MJ, Breen G, McIntosh AM, Lewis CM; Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium; iPSYCH, Hougaard DM, Nordentoft M, Mors O, Mortensen PB, Werge T, Als TD, Børglum AD, Petryshen TL, Smoller JW, Goldstein JM.
Biol Psychiatry. 2022 Jan 1;91(1):102-117. doi: 10.1016/j.biopsych.2021.02.972. Epub 2021 Mar 23.
PMID: 34099189
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group.
Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7.
PMID: 33985857
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.
Czakó M, Till Á, Zima J, Zsigmond A, Szabó A, Maász A, Melegh B, Hadzsiev K.
Front Genet. 2021 Apr 14;12:635458. doi: 10.3389/fgene.2021.635458. eCollection 2021.
PMID: 33936165 Free PMC article.
Persistent postconcussive symptoms in children and adolescents with mild traumatic brain injury receiving initial head computed tomography.
Riemann L, Voormolen DC, Rauen K, Zweckberger K, Unterberg A, Younsi A; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants; The Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants.
J Neurosurg Pediatr. 2021 Feb 26;27(5):538-547. doi: 10.3171/2020.9.PEDS20421.
PMID: 33636701
Missing Data in Prediction Research: A Five-Step Approach for Multiple Imputation, Illustrated in the CENTER-TBI Study.
Gravesteijn BY, Sewalt CA, Venema E, Nieboer D, Steyerberg EW; CENTER-TBI Collaborators.
J Neurotrauma. 2021 Jun 1;38(13):1842-1857. doi: 10.1089/neu.2020.7218. Epub 2021 Feb 25.
PMID: 33470157
[Gene testing in Treacher Collins syndrome].
Zsigmond A, Till Á, Pintér AL, Maász A, Szabó A, Hadzsiev K.
Orv Hetil. 2020 Dec 27;161(52):2201-2205. doi: 10.1556/650.2020.31945.
PMID: 33361506 Hungarian.
Global Characterisation of Coagulopathy in Isolated Traumatic Brain Injury (iTBI): A CENTER-TBI Analysis.
Böhm JK, Güting H, Thorn S, Schäfer N, Rambach V, Schöchl H, Grottke O, Rossaint R, Stanworth S, Curry N, Lefering R, Maegele M; CENTER-TBI Participants and Investigators.
Neurocrit Care. 2021 Aug;35(1):184-196. doi: 10.1007/s12028-020-01151-7. Epub 2020 Dec 11.
PMID: 33306177 Free PMC article.
Understanding the relationship between cognitive performance and function in daily life after traumatic brain injury.
Wilson L, Horton L, Kunzmann K, Sahakian BJ, Newcombe VF, Stamatakis EA, von Steinbuechel N, Cunitz K, Covic A, Maas A, Van Praag D, Menon D; CENTER-TBI participants and investigators.
J Neurol Neurosurg Psychiatry. 2020 Dec 2:jnnp-2020-324492. doi: 10.1136/jnnp-2020-324492. Online ahead of print.
PMID: 33268472
Outcome Prediction after Moderate and Severe Traumatic Brain Injury: External Validation of Two Established Prognostic Models in 1742 European Patients.
Dijkland SA, Helmrich IRAR, Nieboer D, van der Jagt M, Dippel DWJ, Menon DK, Stocchetti N, Maas AIR, Lingsma HF, Steyerberg EW; CENTER-TBI Participants and Investigators.
J Neurotrauma. 2021 May 15;38(10):1377-1388. doi: 10.1089/neu.2020.7300. Epub 2020 Dec 14.
PMID: 33161840
Prediction of Global Functional Outcome and Post-Concussive Symptoms after Mild Traumatic Brain Injury: External Validation of Prognostic Models in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Study.
Mikolić A, Polinder S, Steyerberg EW, Retel Helmrich IRA, Giacino JT, Maas AIR, van der Naalt J, Voormolen DC, von Steinbüchel N, Wilson L, Lingsma HF, van Klaveren D; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Study Participants and Investigators.
J Neurotrauma. 2021 Jan 15;38(2):196-209. doi: 10.1089/neu.2020.7074. Epub 2020 Oct 19.
PMID: 32977737
Correction to: Frequency of fatigue and its changes in the first 6 months after traumatic brain injury: results from the CENTER-TBI study.
Andelic N, Røe C, Brunborg C, Zeldovich M, Løvstad M, Løke D, Borgen IM, Voormolen DC, Howe EI, Forslund MV, Dahl HM, von Steinbuechel N; CENTER-TBI participants investigators.
J Neurol. 2021 Jan;268(1):74-76. doi: 10.1007/s00415-020-10174-1.
PMID: 32910254 Free PMC article. No abstract available.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J.
Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228.
PMID: 32875335
Differences between Men and Women in Treatment and Outcome after Traumatic Brain Injury.
Mikolić A, van Klaveren D, Groeniger JO, Wiegers EJA, Lingsma HF, Zeldovich M, von Steinbüchel N, Maas AIR, Roeters van Lennep JE, Polinder S; CENTER-TBI Participants and Investigators.
J Neurotrauma. 2021 Jan 15;38(2):235-251. doi: 10.1089/neu.2020.7228. Epub 2020 Oct 19.
PMID: 32838645
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T.
Lancet Neurol. 2020 Sep;19(9):738-747. doi: 10.1016/S1474-4422(20)30235-0.
PMID: 32822634 Clinical Trial.
Reply to Kratz et al.
Frebourg T, Lagercrantz SB, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS.
Eur J Hum Genet. 2020 Nov;28(11):1483-1485. doi: 10.1038/s41431-020-00710-y. Epub 2020 Aug 13.
PMID: 32792624 Free PMC article. No abstract available.
Predictors of Access to Rehabilitation in the Year Following Traumatic Brain Injury: A European Prospective and Multicenter Study.
Jacob L, Cogné M, Tenovuo O, Røe C, Andelic N, Majdan M, Ranta J, Ylen P, Dawes H, Azouvi P; CENTER-TBI Participants and Investigators.
Neurorehabil Neural Repair. 2020 Sep;34(9):814-830. doi: 10.1177/1545968320946038. Epub 2020 Aug 7.
PMID: 32762407
Tracheal intubation in traumatic brain injury: a multicentre prospective observational study.
Gravesteijn BY, Sewalt CA, Nieboer D, Menon DK, Maas A, Lecky F, Klimek M, Lingsma HF; CENTER-TBI collaborators.
Br J Anaesth. 2020 Oct;125(4):505-517. doi: 10.1016/j.bja.2020.05.067. Epub 2020 Jul 31.
PMID: 32747075 Free PMC article.
Frequency of fatigue and its changes in the first 6 months after traumatic brain injury: results from the CENTER-TBI study.
Andelic N, Røe C, Brunborg C, Zeldovich M, Løvstad M, Løke D, Borgen IM, Voormolen DC, Howe EI, Forslund MV, Dahl HM, von Steinbuechel N; CENTER-TBI participants investigators.
J Neurol. 2021 Jan;268(1):61-73. doi: 10.1007/s00415-020-10022-2. Epub 2020 Jul 16.
PMID: 32676767 Free PMC article.
Health-related quality of life after traumatic brain injury: deriving value sets for the QOLIBRI-OS for Italy, The Netherlands and The United Kingdom.
Voormolen DC, Polinder S, von Steinbuechel N, Feng Y, Wilson L, Oppe M, Haagsma JA; CENTER-TBI participants and investigators.
Qual Life Res. 2020 Nov;29(11):3095-3107. doi: 10.1007/s11136-020-02583-6. Epub 2020 Jul 15.
PMID: 32671617 Free PMC article.
Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania.
Ádám V, Bánfai Z, Maász A, Sümegi K, Miseta A, Melegh B.
J Hum Genet. 2020 Dec;65(12):1093-1103. doi: 10.1038/s10038-020-0799-6. Epub 2020 Jul 11.
PMID: 32653894
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS.
Eur J Hum Genet. 2020 Oct;28(10):1387-1393. doi: 10.1038/s41431-020-0651-7. Epub 2020 Jun 12.
PMID: 32533092 Free PMC article.
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, van de Warrenburg B, Hengel H, Lima M, Filla A, Durr A, Melegh B, Masciullo M, Infante J, Giunti P, Neumann M, de Vries J, Pereira de Almeida L, Rakowicz M, Jacobi H, Schüle R, Kaeser SA, Kuhle J, Klockgether T, Schöls L; SCA3 neurofilament study group, Barro C, Hübener-Schmid J, Synofzik M.
EMBO Mol Med. 2020 Jul 7;12(7):e11803. doi: 10.15252/emmm.201911803. Epub 2020 Jun 8.
PMID: 32510847 Free PMC article.
Complement genes contribute sex-biased vulnerability in diverse disorders.
Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RR, Criswell LA, Vyse TJ, McCarroll SA.
Nature. 2020 Jun;582(7813):577-581. doi: 10.1038/s41586-020-2277-x. Epub 2020 May 11.
PMID: 32499649 Free PMC article.
Informed consent procedures in patients with an acute inability to provide informed consent: Policy and practice in the CENTER-TBI study.
van Wijk RPJ, van Dijck JTJM, Timmers M, van Veen E, Citerio G, Lingsma HF, Maas AIR, Menon DK, Peul WC, Stocchetti N, Kompanje EJO; CENTER-TBI investigators and participants.
J Crit Care. 2020 Oct;59:6-15. doi: 10.1016/j.jcrc.2020.05.004. Epub 2020 May 25.
PMID: 32485440
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS.
Eur J Hum Genet. 2020 Oct;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4. Epub 2020 May 26.
PMID: 32457520 Free PMC article.
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Szalai R, Melegh BI, Till A, Ripszam R, Csabi G, Acharya A, Schrauwen I, Leal SM, Komoly S, Kosztolanyi G, Hadzsiev K.
Exp Mol Pathol. 2020 Aug;115:104471. doi: 10.1016/j.yexmp.2020.104471. Epub 2020 May 21.
PMID: 32446860
How do 66 European institutional review boards approve one protocol for an international prospective observational study on traumatic brain injury? Experiences from the CENTER-TBI study.
Timmers M, van Dijck JTJM, van Wijk RPJ, Legrand V, van Veen E, Maas AIR, Menon DK, Citerio G, Stocchetti N, Kompanje EJO; CENTER-TBI investigators and participants.
BMC Med Ethics. 2020 May 12;21(1):36. doi: 10.1186/s12910-020-00480-8.
PMID: 32398066 Free PMC article.
Impact of Antithrombotic Agents on Radiological Lesion Progression in Acute Traumatic Brain Injury: A CENTER-TBI Propensity-Matched Cohort Analysis.
Mathieu F, Güting H, Gravesteijn B, Monteiro M, Glocker B, Kornaropoulos EN, Kamnistas K, Robertson CS, Levin H, Whitehouse DP, Das T, Lingsma HF, Maegele M, Newcombe VFJ, Menon DK; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants.
J Neurotrauma. 2020 Oct 1;37(19):2069-2080. doi: 10.1089/neu.2019.6911. Epub 2020 Jun 3.
PMID: 32312149
Machine learning algorithms performed no better than regression models for prognostication in traumatic brain injury.
Gravesteijn BY, Nieboer D, Ercole A, Lingsma HF, Nelson D, van Calster B, Steyerberg EW; CENTER-TBI collaborators.
J Clin Epidemiol. 2020 Jun;122:95-107. doi: 10.1016/j.jclinepi.2020.03.005. Epub 2020 Mar 20.
PMID: 32201256
[When is it necessary to refer a child with cancer to genetic counseling?].
Ripszám R, Melegh B, Hadzsiev K.
Magy Onkol. 2020 Mar 17;64(1):38-42. Epub 2020 Feb 27.
PMID: 32181761 Review. Hungarian.
Comparison of Care System and Treatment Approaches for Patients with Traumatic Brain Injury in China versus Europe: A CENTER-TBI Survey Study.
Feng J, van Veen E, Yang C, Huijben JA, Lingsma HF, Gao G, Jiang J, Maas AIR; Collaborative European Neuro Trauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants.
J Neurotrauma. 2020 Aug 15;37(16):1806-1817. doi: 10.1089/neu.2019.6900. Epub 2020 Apr 28.
PMID: 32174214
Biomarkers for Traumatic Brain Injury: Data Standards and Statistical Considerations.
Huie JR, Mondello S, Lindsell CJ, Antiga L, Yuh EL, Zanier ER, Masson S, Rosario BL, Ferguson AR; Transforming Research and Clinical Knowledge in Traumatic Brain Injury (TRACK-TBI) Investigators, The Transforming Research and Clinical Knowledge in Traumatic Brain Injury (TRACK-TBI) Investigators, Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Participants and Investigators, Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Participants and Investigators.
J Neurotrauma. 2021 Sep 15;38(18):2514-2529. doi: 10.1089/neu.2019.6762. Epub 2020 Apr 1.
PMID: 32046588 Review.
The Undiagnosed Diseases Network International: Five years and more!
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl WA.
Mol Genet Metab. 2020 Apr;129(4):243-254. doi: 10.1016/j.ymgme.2020.01.004. Epub 2020 Jan 17.
PMID: 32033911
[MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy].
Düh A, Till Á, Bánfai Z, Hegyi M, Melegh B, Hadzsiev K.
Orv Hetil. 2019 Dec;160(51):2036-2039. doi: 10.1556/650.2019.31520.
PMID: 31838863 Review. Hungarian.
Prognostic Validation of the NINDS Common Data Elements for the Radiologic Reporting of Acute Traumatic Brain Injuries: A CENTER-TBI Study.
Vande Vyvere T, De La Rosa E, Wilms G, Nieboer D, Steyerberg E, Maas AIR, Verheyden J, van den Hauwe L, Parizel PM; CENTER-TBI Participants and Investigators.
J Neurotrauma. 2020 Jun 1;37(11):1269-1282. doi: 10.1089/neu.2019.6710. Epub 2020 Feb 25.
PMID: 31813313 Clinical Trial.
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
Till Á, Zima J, Fekete A, Bene J, Czakó M, Szabó A, Melegh B, Hadzsiev K.
Seizure. 2020 Jan;74:8-13. doi: 10.1016/j.seizure.2019.10.019. Epub 2019 Nov 8.
PMID: 31765958
Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis.
Bene J, Szabo A, Komlósi K, Melegh B.
Curr Mol Med. 2020;20(5):336-354. doi: 10.2174/1566524019666191113120828.
PMID: 31729298 Free PMC article. Review.
Toward a New Multi-Dimensional Classification of Traumatic Brain Injury: A Collaborative European NeuroTrauma Effectiveness Research for Traumatic Brain Injury Study.
Gravesteijn BY, Sewalt CA, Ercole A, Akerlund C, Nelson D, Maas AIR, Menon D, Lingsma HF, Steyerberg EW; Collaborative European NeuroTrauma Effectiveness Research for Traumatic Brain Injury Collaborators.
J Neurotrauma. 2020 Apr 1;37(7):1002-1010. doi: 10.1089/neu.2019.6764. Epub 2019 Dec 5.
PMID: 31672086
Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.
Czakó M, Till Á, Szabó A, Ripszám R, Melegh B, Hadzsiev K.
Int J Mol Sci. 2019 Oct 5;20(19):4935. doi: 10.3390/ijms20194935.
PMID: 31590400 Free PMC article.
Case-mix, care pathways, and outcomes in patients with traumatic brain injury in CENTER-TBI: a European prospective, multicentre, longitudinal, cohort study.
Steyerberg EW, Wiegers E, Sewalt C, Buki A, Citerio G, De Keyser V, Ercole A, Kunzmann K, Lanyon L, Lecky F, Lingsma H, Manley G, Nelson D, Peul W, Stocchetti N, von Steinbüchel N, Vande Vyvere T, Verheyden J, Wilson L, Maas AIR, Menon DK; CENTER-TBI Participants and Investigators.
Lancet Neurol. 2019 Oct;18(10):923-934. doi: 10.1016/S1474-4422(19)30232-7.
PMID: 31526754
A polygenic resilience score moderates the genetic risk for schizophrenia.
Hess JL, Tylee DS, Mattheisen M; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Børglum AD, Als TD, Grove J, Werge T, Mortensen PB, Mors O, Nordentoft M, Hougaard DM, Byberg-Grauholm J, Bækvad-Hansen M, Greenwood TA, Tsuang MT, Curtis D, Steinberg S, Sigurdsson E, Stefánsson H, Stefánsson K, Edenberg HJ, Holmans P, Faraone SV, Glatt SJ.
Mol Psychiatry. 2021 Mar;26(3):800-815. doi: 10.1038/s41380-019-0463-8. Epub 2019 Sep 6.
PMID: 31492941 Free PMC article.
Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area.
Bánfai Z, Melegh BI, Sümegi K, Hadzsiev K, Miseta A, Kásler M, Melegh B.
Front Genet. 2019 Jun 13;10:558. doi: 10.3389/fgene.2019.00558. eCollection 2019.
PMID: 31263480 Free PMC article.
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S.
Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18.
PMID: 31211461
[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy].
Till Á, Szalai R, Hegyi M, Kövesdi E, Büki G, Hadzsiev K, Melegh B.
Orv Hetil. 2019 May;160(21):835-838. doi: 10.1556/650.2019.31404.
PMID: 31104500 Hungarian.
Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA.
Nat Genet. 2019 Jun;51(6):1068. doi: 10.1038/s41588-019-0435-6.
PMID: 31086353
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
Pál E, Zima J, Hadzsiev K, Ito YA, Hartley T; Care4Rare Canada Consortium, Boycott KM, Melegh B.
Eur J Med Genet. 2019 Jul;62(7):103662. doi: 10.1016/j.ejmg.2019.05.001. Epub 2019 May 6.
PMID: 31071488
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A.
Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019.
PMID: 31049350 Free PMC article.
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada, Boycott KM, Melegh B, Hadzsiev K.
Eur J Med Genet. 2020 Feb;63(2):103655. doi: 10.1016/j.ejmg.2019.04.012. Epub 2019 Apr 27.
PMID: 31034989
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA.
Nat Genet. 2019 Apr;51(4):659-674. doi: 10.1038/s41588-019-0364-4. Epub 2019 Mar 25.
PMID: 30911161 Free PMC article.
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM.
Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.
PMID: 30872814 Free PMC article. Clinical Trial.
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.
Harold D, Connolly S, Riley BP, Kendler KS, McCarthy SE, McCombie WR, Richards A, Owen MJ, O'Donovan MC, Walters J; Wellcome Trust Case Control Consortium 2; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Donohoe G, Gill M, Corvin A, Morris DW.
Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):223-231. doi: 10.1002/ajmg.b.32716. Epub 2019 Feb 23.
PMID: 30801977 Free PMC article.
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
Hadzsiev K, Gyorsok Z, Till A, Czakó M, Bartsch O.
Clin Dysmorphol. 2019 Jul;28(3):137-141. doi: 10.1097/MCD.0000000000000262.
PMID: 30789376 Free PMC article.
Correction to: Variation in neurosurgical management of traumatic brain injury: a survey in 68 centers participating in the CENTER-TBI study.
van Essen TA, den Boogert HF, Cnossen MC, de Ruiter GCW, Haitsma I, Polinder S, Steyerberg EW, Menon D, Maas AIR, Lingsma HF, Peul WC; CENTER-TBI Investigators and Participants.
Acta Neurochir (Wien). 2019 Mar;161(3):451-455. doi: 10.1007/s00701-019-03815-6.
PMID: 30715604 Free PMC article.
Brain death and postmortem organ donation: report of a questionnaire from the CENTER-TBI study.
van Veen E, van der Jagt M, Cnossen MC, Maas AIR, de Beaufort ID, Menon DK, Citerio G, Stocchetti N, Rietdijk WJR, van Dijck JTJM, Kompanje EJO; CENTER-TBI investigators and participants.
Crit Care. 2018 Nov 16;22(1):306. doi: 10.1186/s13054-018-2241-4.
PMID: 30446017 Free PMC article.
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.
Vos JR, Giepmans L, Röhl C, Geverink N, Hoogerbrugge N; ERN GENTURIS.
Fam Cancer. 2019 Apr;18(2):281-284. doi: 10.1007/s10689-018-0110-6.
PMID: 30302652 Free PMC article.
Central versus Local Radiological Reading of Acute Computed Tomography Characteristics in Multi-Center Traumatic Brain Injury Research.
Vande Vyvere T, Wilms G, Claes L, Martin Leon F, Nieboer D, Verheyden J, van den Hauwe L, Pullens P, Maas AIR, Parizel PM; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants.
J Neurotrauma. 2019 Apr 1;36(7):1080-1092. doi: 10.1089/neu.2018.6061. Epub 2018 Dec 11.
PMID: 30259789
Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data.
Bánfai Z, Ádám V, Pöstyéni E, Büki G, Czakó M, Miseta A, Melegh B.
PLoS One. 2018 Sep 10;13(9):e0202890. doi: 10.1371/journal.pone.0202890. eCollection 2018.
PMID: 30199533 Free PMC article.
First report on the association of SCN1A mutation, childhood schizophrenia and autism spectrum disorder without epilepsy.
Papp-Hertelendi R, Tényi T, Hadzsiev K, Hau L, Benyus Z, Csábi G.
Psychiatry Res. 2018 Dec;270:1175-1176. doi: 10.1016/j.psychres.2018.07.028. Epub 2018 Jul 19.
PMID: 30060894 No abstract available.
Age at first birth in women is genetically associated with increased risk of schizophrenia.
Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium.
Sci Rep. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.
PMID: 29977057 Free PMC article.
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.
J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29.
PMID: 29959555
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.
Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.
Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.
PMID: 29906448 Free PMC article.
Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood.
Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee SH.
Am J Hum Genet. 2018 Jun 7;102(6):1185-1194. doi: 10.1016/j.ajhg.2018.03.021. Epub 2018 May 10.
PMID: 29754766 Free PMC article.
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.
Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, van El CG, Turnpenny PD, Melegh B, Mendes Á, Halbersma-Konings TF, van Langen IM, Lucassen AM, Clarke AJ, Forzano F, Kelly SE.
Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.
PMID: 29681620 Free PMC article.
Variation in general supportive and preventive intensive care management of traumatic brain injury: a survey in 66 neurotrauma centers participating in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) study.
Huijben JA, Volovici V, Cnossen MC, Haitsma IK, Stocchetti N, Maas AIR, Menon DK, Ercole A, Citerio G, Nelson D, Polinder S, Steyerberg EW, Lingsma HF, van der Jagt M; CENTER-TBI investigators and participants.
Crit Care. 2018 Apr 13;22(1):90. doi: 10.1186/s13054-018-2000-6.
PMID: 29650049 Free PMC article.
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.
Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.
Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.
PMID: 29553382
Role of carnitine and its derivatives in the development and management of type 2 diabetes.
Bene J, Hadzsiev K, Melegh B.
Nutr Diabetes. 2018 Mar 7;8(1):8. doi: 10.1038/s41387-018-0017-1.
PMID: 29549241 Free PMC article. Review.
Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.
Matyas P, Postyeni E, Komlosi K, Szalai R, Bene J, Magyari L, Melegh B, Hadzsiev K.
Pathol Oncol Res. 2019 Oct;25(4):1349-1355. doi: 10.1007/s12253-018-0388-6. Epub 2018 Feb 17.
PMID: 29455378
Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B.
BMC Med Genet. 2017 Dec 16;18(1):150. doi: 10.1186/s12881-017-0510-8.
PMID: 29248012 Free PMC article.
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
Szabó A, Czakó M, Hadzsiev K, Duga B, Bánfai Z, Komlósi K, Melegh B.
Am J Med Genet A. 2018 Feb;176(2):443-449. doi: 10.1002/ajmg.a.38566. Epub 2017 Dec 11.
PMID: 29226546
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].
Sebők Á, Pál E, Molnár GA, Wittmann I, Berenténé Bene J, Melegh B, Komoly S, Hidvégi T, Balogh L, Szabó A, Zsidegh P.
Orv Hetil. 2017 Nov;158(47):1873-1882. doi: 10.1556/650.2017.30923.
PMID: 29153022 Hungarian.
Parallel palaeogenomic transects reveal complex genetic history of early European farmers.
Lipson M, Szécsényi-Nagy A, Mallick S, Pósa A, Stégmár B, Keerl V, Rohland N, Stewardson K, Ferry M, Michel M, Oppenheimer J, Broomandkhoshbacht N, Harney E, Nordenfelt S, Llamas B, Gusztáv Mende B, Köhler K, Oross K, Bondár M, Marton T, Osztás A, Jakucs J, Paluch T, Horváth F, Csengeri P, Koós J, Sebők K, Anders A, Raczky P, Regenye J, Barna JP, Fábián S, Serlegi G, Toldi Z, Gyöngyvér Nagy E, Dani J, Molnár E, Pálfi G, Márk L, Melegh B, Bánfai Z, Domboróczki L, Fernández-Eraso J, Antonio Mujika-Alustiza J, Alonso Fernández C, Jiménez Echevarría J, Bollongino R, Orschiedt J, Schierhold K, Meller H, Cooper A, Burger J, Bánffy E, Alt KW, Lalueza-Fox C, Haak W, Reich D.
Nature. 2017 Nov 16;551(7680):368-372. doi: 10.1038/nature24476. Epub 2017 Nov 8.
PMID: 29144465 Free PMC article.
Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research.
Maas AIR, Menon DK, Adelson PD, Andelic N, Bell MJ, Belli A, Bragge P, Brazinova A, Büki A, Chesnut RM, Citerio G, Coburn M, Cooper DJ, Crowder AT, Czeiter E, Czosnyka M, Diaz-Arrastia R, Dreier JP, Duhaime AC, Ercole A, van Essen TA, Feigin VL, Gao G, Giacino J, Gonzalez-Lara LE, Gruen RL, Gupta D, Hartings JA, Hill S, Jiang JY, Ketharanathan N, Kompanje EJO, Lanyon L, Laureys S, Lecky F, Levin H, Lingsma HF, Maegele M, Majdan M, Manley G, Marsteller J, Mascia L, McFadyen C, Mondello S, Newcombe V, Palotie A, Parizel PM, Peul W, Piercy J, Polinder S, Puybasset L, Rasmussen TE, Rossaint R, Smielewski P, Söderberg J, Stanworth SJ, Stein MB, von Steinbüchel N, Stewart W, Steyerberg EW, Stocchetti N, Synnot A, Te Ao B, Tenovuo O, Theadom A, Tibboel D, Videtta W, Wang KKW, Williams WH, Wilson L, Yaffe K; InTBIR Participants and Investigators.
Lancet Neurol. 2017 Dec;16(12):987-1048. doi: 10.1016/S1474-4422(17)30371-X. Epub 2017 Nov 6.
PMID: 29122524 Review. No abstract available.
CYP2C9 and VKORC1 in therapeutic dosing and safety of acenocoumarol treatment: implication for clinical practice in Hungary.
Varnai R, Sipeky C, Nagy L, Balogh S, Melegh B.
Environ Toxicol Pharmacol. 2017 Dec;56:282-289. doi: 10.1016/j.etap.2017.10.003. Epub 2017 Oct 8.
PMID: 29055218
[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].
Hadzsiev K, Szőts M, Fekete A, Balikó L, Boycott K, Nagy F, Melegh B.
Orv Hetil. 2017 Oct;158(42):1681-1684. doi: 10.1556/650.2017.30880.
PMID: 29037056 Hungarian.
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B.
BMC Med Genet. 2017 Sep 19;18(1):105. doi: 10.1186/s12881-017-0463-y.
PMID: 28927399 Free PMC article.
Variation in monitoring and treatment policies for intracranial hypertension in traumatic brain injury: a survey in 66 neurotrauma centers participating in the CENTER-TBI study.
Cnossen MC, Huijben JA, van der Jagt M, Volovici V, van Essen T, Polinder S, Nelson D, Ercole A, Stocchetti N, Citerio G, Peul WC, Maas AIR, Menon D, Steyerberg EW, Lingsma HF; CENTER-TBI investigators.
Crit Care. 2017 Sep 6;21(1):233. doi: 10.1186/s13054-017-1816-9.
PMID: 28874206 Free PMC article.
Refining the South Asian Origin of the Romani people.
Melegh BI, Banfai Z, Hadzsiev K, Miseta A, Melegh B.
BMC Genet. 2017 Aug 31;18(1):82. doi: 10.1186/s12863-017-0547-x.
PMID: 28859608 Free PMC article.
Variation in Blood Transfusion and Coagulation Management in Traumatic Brain Injury at the Intensive Care Unit: A Survey in 66 Neurotrauma Centers Participating in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury Study.
Huijben JA, van der Jagt M, Cnossen MC, Kruip MJHA, Haitsma IK, Stocchetti N, Maas AIR, Menon DK, Ercole A, Maegele M, Stanworth SJ, Citerio G, Polinder S, Steyerberg EW, Lingsma HF; CENTER-TBI Investigators and Participants.
J Neurotrauma. 2018 Jan 15;35(2):323-332. doi: 10.1089/neu.2017.5194. Epub 2017 Nov 21.
PMID: 28825511
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.
Diallo A, Jacobi H, Schmitz-Hübsch T, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Baliko L, Parkinson MH, Kang JS, Klockgether T, Tezenas du Montcel S.
Mov Disord Clin Pract. 2017 Aug 11;4(5):689-697. doi: 10.1002/mdc3.12522. eCollection 2017 Sep-Oct.
PMID: 30363449 Free PMC article.
[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases].
Kövesdi E, Bene J, Nagy N, Horváth Á, Melegh B, Hadzsiev K.
Orv Hetil. 2017 Jul;158(30):1188-1194. doi: 10.1556/650.2017.30789.
PMID: 28737457 Hungarian.
Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.
Tripolszki K, Farkas K, Sulák A, Szolnoky G, Duga B, Melegh B, Knox RG, Parker VER, Semple RK, Kemény L, Széll M, Nagy N.
Clin Exp Dermatol. 2017 Oct;42(7):763-766. doi: 10.1111/ced.13154. Epub 2017 Jun 8.
PMID: 28598037
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.
Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.
PMID: 28498505
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J.
Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z.
PMID: 28468665 Free PMC article.
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall M, Luczay A, Koncz K, Hadzsiev K, Erhardt É, Szilágyi Á, Doleschall Z, Németh K, Török D, Prohászka Z, Gereben B, Fekete G, Gláz E, Igaz P, Korbonits M, Tóth M, Rácz K, Patócs A.
Eur J Hum Genet. 2017 Jun;25(6):702-710. doi: 10.1038/ejhg.2017.38. Epub 2017 Apr 12.
PMID: 28401898 Free PMC article.
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium.
Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.
PMID: 28322246 Free PMC article.
Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples.
Sumegi K, Duga B, Melegh BI, Banfai Z, Kovesdi E, Maasz A, Melegh B.
Pathol Oncol Res. 2017 Oct;23(4):853-861. doi: 10.1007/s12253-017-0197-3. Epub 2017 Jan 19.
PMID: 28102463
On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3.
Seidel K, Siswanto S, Fredrich M, Bouzrou M, den Dunnen WFA, Özerden I, Korf HW, Melegh B, de Vries JJ, Brunt ER, Auburger G, Rüb U.
Brain Pathol. 2017 May;27(3):345-355. doi: 10.1111/bpa.12412. Epub 2016 Aug 2.
PMID: 27377427 Free PMC article.