Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area
Bánfai, Zsolt, Melegh, Béla I, Sümegi, Katalin, Hadzsiev, Kinga, Miseta, Attila, Kásler, Miklós, Melegh, Béla
Published in Frontiers in genetics (13.06.2019)
Published in Frontiers in genetics (13.06.2019)
Get full text
Journal Article
Reconstructing Roma history from genome-wide data
Moorjani, Priya, Patterson, Nick, Loh, Po-Ru, Lipson, Mark, Kisfali, Péter, Melegh, Bela I, Bonin, Michael, Kádaši, Ludevít, Rieß, Olaf, Berger, Bonnie, Reich, David, Melegh, Béla
Published in PloS one (13.03.2013)
Published in PloS one (13.03.2013)
Get full text
Journal Article
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
Taruscio, Domenica, Groft, Stephen C., Cederroth, Helene, Melegh, Béla, Lasko, Paul, Kosaki, Kenjiro, Baynam, Gareth, McCray, Alexa, Gahl, William A.
Published in Molecular genetics and metabolism (01.12.2015)
Published in Molecular genetics and metabolism (01.12.2015)
Get full text
Journal Article
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type
Zima, Judith, Eaton, Alison, Pál, Endre, Till, Ágnes, Ito, Yoko A., Warman-Chardon, Jodi, Hartley, Taila, Cagnone, Gael, Melegh, Bela I., Boycott, Kym M., Melegh, Béla, Hadzsiev, Kinga
Published in European journal of medical genetics (01.02.2020)
Published in European journal of medical genetics (01.02.2020)
Get full text
Journal Article
Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data
Bánfai, Zsolt, Ádám, Valerián, Pöstyéni, Etelka, Büki, Gergely, Czakó, Márta, Miseta, Attila, Melegh, Béla
Published in PloS one (10.09.2018)
Published in PloS one (10.09.2018)
Get full text
Journal Article
Towards a European consensus for reporting incidental findings during clinical NGS testing
Hehir-Kwa, Jayne Y, Claustres, Mireille, Hastings, Ros J, van Ravenswaaij-Arts, Conny, Christenhusz, Gabrielle, Genuardi, Maurizio, Melegh, Béla, Cambon-Thomsen, Anne, Patsalis, Philippos, Vermeesch, Joris, Cornel, Martina C, Searle, Beverly, Palotie, Aarno, Capoluongo, Ettore, Peterlin, Borut, Estivill, Xavier, Robinson, Peter N
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
Get full text
Journal Article
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
DU MONTCEL, Sophie Tezenas, DURR, Alexandra, VAN DE WARRENBURG, Bart P. C, ORSI, Laura, GIUNTI, Paola, FILLA, Alessandro, SZYMANSKI, Sandra, KLOCKGETHER, Thomas, BERCIANO, José, PANDOLFO, Massimo, BOESCH, Sylvia, MELEGH, Bela, BAUER, Peter, TIMMANN, Dagmar, MANDICH, Paola, CAMUZAT, Agnès, GOTO, Jun, ASHIZAWA, Tetsuo, CAZENEUVE, Cécile, TSUJI, Shoji, PULST, Stefan-M, BRUSCO, Alfredo, RIESS, Olaf, FIGUEROA, Karla P, BRICE, Alexis, STEVANIN, Giovanni, ICHIKAWA, Yaeko, BRUSSINO, Alessandro, FORLANI, Sylvie, RAKOWICZ, Maria, SCHÖLS, Ludger, MARIOTTI, Caterina
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
Get full text
Journal 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, Renata, Melegh, Bela I., Till, Agnes, Ripszam, Reka, Csabi, Gyorgyi, Acharya, Anushree, Schrauwen, Isabelle, Leal, Suzanne M., Komoly, Samuel, Kosztolanyi, Gyorgy, Hadzsiev, Kinga
Published in Experimental and molecular pathology (01.08.2020)
Published in Experimental and molecular pathology (01.08.2020)
Get full text
Journal Article
Rare disease education in Europe and beyond: time to act
Tumiene, Birute, Peters, Harm, Melegh, Bela, Peterlin, Borut, Utkus, Algirdas, Fatkulina, Natalja, Pfliegler, György, Graessner, Holm, Hermanns, Sanja, Scarpa, Maurizio, Blay, Jean-Yves, Ashton, Sharon, McKay, Lucy, Baynam, Gareth
Published in Orphanet journal of rare diseases (19.12.2022)
Published in Orphanet journal of rare diseases (19.12.2022)
Get full text
Journal Article
Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples
Sumegi, Katalin, Duga, Balazs, Melegh, Bela I., Banfai, Zsolt, Kovesdi, Erzsebet, Maasz, Anita, Melegh, Bela
Published in Pathology oncology research (01.10.2017)
Published in Pathology oncology research (01.10.2017)
Get full text
Journal Article
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy
Till, Ágnes, Zima, Judith, Fekete, Anett, Bene, Judit, Czakó, Márta, Szabó, András, Melegh, Béla, Hadzsiev, Kinga
Published in Seizure (London, England) (01.01.2020)
Published in Seizure (London, England) (01.01.2020)
Get full text
Journal Article
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation
Czakó, Márta, Till, Ágnes, Zima, Judith, Zsigmond, Anna, Szabó, András, Maász, Anita, Melegh, Béla, Hadzsiev, Kinga
Published in Frontiers in genetics (14.04.2021)
Published in Frontiers in genetics (14.04.2021)
Get full text
Journal Article
Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms
Ternák, Gábor, Márovics, Gergely, Sümegi, Katalin, Bánfai, Zsolt, Büki, Gergely, Magyari, Lili, Szabó, András, Melegh, Béla
Published in Antibiotics (Basel) (01.06.2023)
Published in Antibiotics (Basel) (01.06.2023)
Get full text
Journal Article