Dezso David
AuthID: R-000-470
1
TITLE: SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants Full Text
AUTHORS: Fino, J; Marques, B; Dong, ZR; David, D;
PUBLISHED: 2021, SOURCE: FRONTIERS IN GENETICS, VOLUME: 12
AUTHORS: Fino, J; Marques, B; Dong, ZR; David, D;
PUBLISHED: 2021, SOURCE: FRONTIERS IN GENETICS, VOLUME: 12
INDEXED IN: 
WOS
WOS2
TITLE: Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape Full Text
AUTHORS: David, D; Freixo, JP; Fino, J; Carvalho, I; Marques, M; Cardoso, M; Pina Aguilar, RE; Morton, CC;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 4
AUTHORS: David, D; Freixo, JP; Fino, J; Carvalho, I; Marques, M; Cardoso, M; Pina Aguilar, RE; Morton, CC;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 4
3
TITLE: Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
AUTHORS: Lengyel, A; Pinti, E; Piko, H; Javorszky, E; David, D; Tihanyi, M; Gonczi, E; Kiss, E; Toth, Z; Tory, K; Fekete, G; Haltrich, I;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 10
AUTHORS: Lengyel, A; Pinti, E; Piko, H; Javorszky, E; David, D; Tihanyi, M; Gonczi, E; Kiss, E; Toth, Z; Tory, K; Fekete, G; Haltrich, I;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 10
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TITLE: Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes Full Text
AUTHORS: Corona Rivera, JR; Corona Rivera, A; Zepeda Romero, LC; Rios Flores, IM; Rivera Vargas, J; Orozco Vela, M; Santana Bejarano, UF; Torres Anguiano, E; Pinto Cardoso, M; David, D; Bobadilla Morales, L;
PUBLISHED: 2019, SOURCE: CONGENITAL ANOMALIES, VOLUME: 59, ISSUE: 5
AUTHORS: Corona Rivera, JR; Corona Rivera, A; Zepeda Romero, LC; Rios Flores, IM; Rivera Vargas, J; Orozco Vela, M; Santana Bejarano, UF; Torres Anguiano, E; Pinto Cardoso, M; David, D; Bobadilla Morales, L;
PUBLISHED: 2019, SOURCE: CONGENITAL ANOMALIES, VOLUME: 59, ISSUE: 5
5
TITLE: Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis Full Text
AUTHORS: David, D; Anand, D; Araujo, C; Gloss, B; Fino, J; Dinger, M; Lindahl, P; Poyhonen, M; Hannele, L; Lavinha, J;
PUBLISHED: 2018, SOURCE: EXPERIMENTAL EYE RESEARCH, VOLUME: 168
AUTHORS: David, D; Anand, D; Araujo, C; Gloss, B; Fino, J; Dinger, M; Lindahl, P; Poyhonen, M; Hannele, L; Lavinha, J;
PUBLISHED: 2018, SOURCE: EXPERIMENTAL EYE RESEARCH, VOLUME: 168
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TITLE: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Full Text
AUTHORS: Redin, C; Brand, H; Collins, RL; Kammin, T; Mitchell, E; Hodge, JC; Hanscom, C; Pillalamarri, V; Seabra, CM; Abbott, MA; Abdul Rahman, OA; Aberg, E; Adley, R; Alcaraz Estrada, SL; Alkuraya, FS; An, Y; Anderson, MA; Antolik, C; Anyane Yeboa, K; Atkin, JF; ...More
PUBLISHED: 2017, SOURCE: NATURE GENETICS, VOLUME: 49, ISSUE: 1
AUTHORS: Redin, C; Brand, H; Collins, RL; Kammin, T; Mitchell, E; Hodge, JC; Hanscom, C; Pillalamarri, V; Seabra, CM; Abbott, MA; Abdul Rahman, OA; Aberg, E; Adley, R; Alcaraz Estrada, SL; Alkuraya, FS; An, Y; Anderson, MA; Antolik, C; Anyane Yeboa, K; Atkin, JF; ...More
PUBLISHED: 2017, SOURCE: NATURE GENETICS, VOLUME: 49, ISSUE: 1
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TITLE: Complex X chromosome rearrangement associated with multiorgan autoimmunity Full Text
AUTHORS: Iren Haltrich; Henriett Piko; Horolma Pamjav; Aniko Somogyi; Antonia Voelgyi; Dezso David; Artur Beke; Zoltan Garamvoelgyi; Eszter Kiss; Veronika Karcagi; Gyoergy Fekete;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
AUTHORS: Iren Haltrich; Henriett Piko; Horolma Pamjav; Aniko Somogyi; Antonia Voelgyi; Dezso David; Artur Beke; Zoltan Garamvoelgyi; Eszter Kiss; Veronika Karcagi; Gyoergy Fekete;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
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TITLE: Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene
AUTHORS: Dezső David; Lígia S Almeida; Maristella Maggi; Carlos Araújo; Stefan Imreh; Giovanna Valentini; György Fekete; Irén Haltrich;
PUBLISHED: 2015, SOURCE: JIMD Reports - JIMD Reports, Volume 23
AUTHORS: Dezső David; Lígia S Almeida; Maristella Maggi; Carlos Araújo; Stefan Imreh; Giovanna Valentini; György Fekete; Irén Haltrich;
PUBLISHED: 2015, SOURCE: JIMD Reports - JIMD Reports, Volume 23
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TITLE: Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype
AUTHORS: Kinga Hadzsiev; Dezso David; Gyula Szabo; Marta Czako; Bela Melegh; Gyoergy Kosztolanyi;
PUBLISHED: 2014, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 144, ISSUE: 3
AUTHORS: Kinga Hadzsiev; Dezso David; Gyula Szabo; Marta Czako; Bela Melegh; Gyoergy Kosztolanyi;
PUBLISHED: 2014, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 144, ISSUE: 3
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TITLE: Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression Full Text
AUTHORS: Dezso David; Barbara Marques; Cristina Ferreira; Carlos Araujo; Luis Vieira ; Gabriela Soares; Cristina Dias; Maximina Pinto;
PUBLISHED: 2013, SOURCE: HUMAN GENETICS, VOLUME: 132, ISSUE: 11
AUTHORS: Dezso David; Barbara Marques; Cristina Ferreira; Carlos Araujo; Luis Vieira ; Gabriela Soares; Cristina Dias; Maximina Pinto;
PUBLISHED: 2013, SOURCE: HUMAN GENETICS, VOLUME: 132, ISSUE: 11
