Characterization of Danube Swabian population samples on a high-resolution genome-wide basis

Autor: Zsolt Bánfai, Erzsébet Kövesdi, Katalin Sümegi, Gergely Büki, András Szabó, Lili Magyari, Valerián Ádám, Ferenc Pálos, Attila Miseta, Miklós Kásler, Béla Melegh

Publikováno v: BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)

Abstract Background German-derived ethnicities are one of the largest ethnic groups in Hungary, dating back to the formation of the Kingdom of Hungary, which took place at the beginning of the 11th century. Germans arrived in Hungary in many waves. T

Externí odkaz: https://doaj.org/article/800fd80deb8c4610a9d248e581b683f2

Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms

Autor: Gábor Ternák, Gergely Márovics, Katalin Sümegi, Zsolt Bánfai, Gergely Büki, Lili Magyari, András Szabó, Béla Melegh

Publikováno v: Antibiotics, Vol 12, Iss 6, p 1029 (2023)

Down syndrome (DS) is a leading human genomic abnormality resulting from the trisomy of chromosome 21. The genomic base of the aneuploidy behind this disease is complex, and this complexity poses formidable challenges to understanding the underlying

Externí odkaz: https://doaj.org/article/5d4ecc5d2ef84b1faaecd223f999d0e8

Author Correction: Genome-wide autosomal, mtDNA, and Y chromosome analysis of King Bela III of the Hungarian Arpad dynasty

Autor: Chuan‑Chao Wang, Cosimo Posth, Anja Furtwängler, Katalin Sümegi, Zsolt Bánfai, Miklós Kásler, Johannes Krause, Béla Melegh

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)

Externí odkaz: https://doaj.org/article/4edf78ff9e7c45d59ce2021d335e6f0a

Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area

Autor: Zsolt Bánfai, Béla I. Melegh, Katalin Sümegi, Kinga Hadzsiev, Attila Miseta, Miklós Kásler, Béla Melegh

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

History of East-Central Europe has been intertwined with the history of Turks in the past. A significant part of this region of Europe has been fallen under Ottoman control during the 150 years of Ottoman occupation in the 16–17th centuries. The pr

Externí odkaz: https://doaj.org/article/83bda94c50d44e768c4972225acb5a91

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Autor: Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

Publikováno v: Genetics in Medicine
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013

On behalf of Queen Square Genomics On behalf of Genomics England Research Consortium; International audience; Purpose: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We condu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bed7407f3676cdb65ab360030ed566
https://hal.science/hal-03840317/document