Andrea H. Nemeth
AuthID: R-006-ZPK
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TITLE: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Full Text
AUTHORS: Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; ...More
PUBLISHED: 2023, SOURCE: GENOME MEDICINE, VOLUME: 15, ISSUE: 1
AUTHORS: Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; ...More
PUBLISHED: 2023, SOURCE: GENOME MEDICINE, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds
AUTHORS: Michele M P Lufino; Ana M Silva; Andrea H Nemeth; Javier Alegre Abarrategui; Angela J Russell; Richard Wade Martins;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 25
AUTHORS: Michele M P Lufino; Ana M Silva; Andrea H Nemeth; Javier Alegre Abarrategui; Angela J Russell; Richard Wade Martins;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 25
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TITLE: Autosomal recessive ataxias: a new gene - aprataxin - responsible for ataxia-ocular apraxia 1, and a new locus on 9q34 Full Text
AUTHORS: Moreira, MC; Klur, S; Barbot, C; Tachi, N; Bomont, P; Watanabe, M; Shoji, M; Warter, JM; Aubourg, P; Durr, A; Nemeth, AH; Amouri, R; Hentati, F; Alurkar, A; Divekar, D; Mendoca, P; Sequeiros, J ; Coutinho, P; Koenig, M;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
AUTHORS: Moreira, MC; Klur, S; Barbot, C; Tachi, N; Bomont, P; Watanabe, M; Shoji, M; Warter, JM; Aubourg, P; Durr, A; Nemeth, AH; Amouri, R; Hentati, F; Alurkar, A; Divekar, D; Mendoca, P; Sequeiros, J ; Coutinho, P; Koenig, M;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXED IN: WOS