ProfileOfResearchers

Identificadas 29

TÃTULO: SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants Full Text
AUTORES: Fino, J; Marques, B; Dong, ZR; David, D;
PUBLICAÇÃO: 2021, FONTE: FRONTIERS IN GENETICS, VOLUME: 12

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TÃTULO: 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
AUTORES: David, D; Freixo, JP; Fino, J; Carvalho, I; Marques, M; Cardoso, M; Pina Aguilar, RE; Morton, CC;
PUBLICAÇÃO: 2020, FONTE: HUMAN GENETICS, VOLUME: 139, NÚMERO: 4

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CrossRef: 8

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ORCID

TÃTULO: Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
AUTORES: Lengyel, A; Pinti, E; Piko, H; Javorszky, E; David, D; Tihanyi, M; Gonczi, E; Kiss, E; Toth, Z; Tory, K; Fekete, G; Haltrich, I;
PUBLICAÇÃO: 2020, FONTE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, NÚMERO: 10

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TÃTULO: Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes Full Text
AUTORES: 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;
PUBLICAÇÃO: 2019, FONTE: CONGENITAL ANOMALIES, VOLUME: 59, NÚMERO: 5

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CrossRef: 8

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TÃTULO: Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis Full Text
AUTORES: David, D; Anand, D; Araujo, C; Gloss, B; Fino, J; Dinger, M; Lindahl, P; Poyhonen, M; Hannele, L; Lavinha, J;
PUBLICAÇÃO: 2018, FONTE: EXPERIMENTAL EYE RESEARCH, VOLUME: 168

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TÃTULO: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Full Text
AUTORES: 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; Bartell, T; Bernstein, JA; Beyer, E; Blumenthal, I; Bongers, EMHF; Brilstra, EH; Brown, CW; Bruggenwirth, HT; Callewaert, B; Chiang, C; Corning, K; Cox, H; Cuppen, E; Currall, BB; Cushing, T; David, D; Deardorff, MA; Dheedene, A; D'Hooghe, M; de Vries, BBA; Earl, DL; Ferguson, HL; Fisher, H; FitzPatrick, DR; Gerrol, P; Giachino, D; Glessner, JT; Gliem, T; Grady, M; Graham, BH; Griffis, C; Gripp, KW; Gropman, AL; Hanson Kahn, A; Harris, DJ; Hayden, MA; Hill, R; Hochstenbach, R; Hoffman, JD; Hopkin, RJ; Hubshman, MW; Innes, AM; Irons, M; Irving, M; Jacobsen, JC; Janssens, S; Jewett, T; Johnson, JP; Jongmans, MC; Kahler, SG; Koolen, DA; Korzelius, J; Kroisel, PM; Lacassie, Y; Lawless, W; Lemyre, E; Leppig, K; Levin, AV; Li, HB; Li, H; Liao, EC; Lim, C; Lose, EJ; Lucente, D; Macera, MJ; Manavalan, P; Mandrile, G; Marcelis, CL; Margolin, L; Mason, T; Masser Frye, D; McClellan, MW; Mendoza, CJZ; Menten, B; Middelkamp, S; Mikami, LR; Moe, E; Mohammed, S; Mononen, T; Mortenson, ME; Moya, G; Nieuwint, AW; Ordulu, Z; Parkash, S; Pauker, SP; Pereira, S; Perrin, D; Phelan, K; Aguilar, REP; Poddighe, PJ; Pregno, G; Raskin, S; Reis, L; Rhead, W; Rita, D; Renkens, I; Roelens, F; Ruliera, J; Rump, P; Schilit, SLP; Shaheen, R; Sparkes, R; Spiegel, E; Stevens, B; Stone, MR; Tagoe, J; Thakuria, JV; van Bon, BW; van de Kamp, J; van Der Burgt, I; van Essen, T; van Ravenswaaij Arts, CM; van Roosmalen, MJ; Vergult, S; Volker Touw, CML; Warburton, DP; Waterman, MJ; Wiley, S; Wilson, A; Yerena de Vega, MDA; Zori, RT; Levy, B; Brunner, HG; de Leeuw, N; Kloosterman, WP; Thorland, EC; Morton, CC; Gusella, JF; Talkowski, ME; ...Mais
PUBLICAÇÃO: 2017, FONTE: NATURE GENETICS, VOLUME: 49, NÚMERO: 1

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CrossRef: 243

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