Sofia Papadimitriou - Publications, H-index & Citations

Sofia Papadimitriou

universite libre de bruxelles

11H指数

20论文数

445被引数

收录论文 9

发表时间

Toward clinical exomes in diagnostics and management of male infertility

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-05-01

PREAI

Lillepea, Kristiina; Juchnewitsch, Anna-Grete; Kasak, Laura; Valkna, Anu; Dutta, Avirup; Pomm, Kristjan; Poolamets, Olev; Nagirnaja, Liina; Tamp, Erik; Mahyari, Eisa; Vihljajev, Vladimir; Tjagur, Stanislav; Papadimitriou, Sofia; Riera-Escamilla, Antoni; Versbraegen, Nassim; Farnetani, Ginevra; Castillo-Madeen, Helen; Sutt, Mailis; Kubarsepp, Viljo; Tennisberg, Sven; Korrovits, Paul; Krausz, Csilla; Aston, Kenneth I.; Lenaerts, Tom; Conrad, Donald F.; Punab, Margus; Laan, Maris

Undiagnosed RASopathies in infertile men

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2024-04-09

OAAI

Juchnewitsch, Anna-Grete; Pomm, Kristjan; Dutta, Avirup; Tamp, Erik; Valkna, Anu; Lillepea, Kristiina; Mahyari, Eisa; Tjagur, Stanislav; Belova, Galina; Kubarsepp, Viljo; Castillo-Madeen, Helen; Riera-Escamilla, Antoni; Polluaas, Lisanna; Nagirnaja, Liina; Poolamets, Olev; Vihljajev, Vladimir; Sutt, Mailis; Versbraegen, Nassim; Papadimitriou, Sofia; McLachlan, Robert I.; Jarvi, Keith A.; Schlegel, Peter N.; Tennisberg, Sven; Korrovits, Paul; Vigh-Conrad, Katinka; O'Bryan, Moira K.; Aston, Kenneth I.; Lenaerts, Tom; Conrad, Donald F.; Kasak, Laura; Punab, Margus; Laan, Maris

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-01-01

OAAI

Papadimitriou, Sofia; Gravel, Barbara; Nachtegael, Charlotte; De Baere, Elfride; Loeys, Bart; Vikkula, Miikka; Smits, Guillaume; Lenaerts, Tom

Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION

IF3.6

2022-04-12

OAAI

Nachtegael, Charlotte; Gravel, Barbara; Dillen, Arnau; Smits, Guillaume; Nowe, Ann; Papadimitriou, Sofia; Lenaerts, Tom

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways 人类原发性小头畸形的双基因遗传描绘了中心体和非中心体途径

HUMAN MUTATION

IF3.7

2019-11-27

OAAI

Duerinckx, Sarah; Jacquemin, Valerie; Drunat, Severine; Vial, Yoann; Passemard, Sandrine; Perazzolo, Camille; Massart, Annick; Soblet, Julie; Racape, Judith; Desmyter, Laurence; Badoer, Cindy; Papadimitriou, Sofia; Le Borgne, Yann-Ael; Lefort, Anne; Libert, Frederick; De Maertelaer, Viviane; Rooman, Marianne; Costagliola, Sabine; Verloes, Alain; Lenaerts, Tom; Pirson, Isabelle; Abramowicz, Marc

Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases

ARTIFICIAL INTELLIGENCE IN MEDICINE

IF6.2

2019-08-01

OAAI

Versbraegen, Nassim; Fouche, Aziz; Nachtegael, Charlotte; Papadimitriou, Sofia; Gazzo, Andrea; Smits, Guillaume; Lenaerts, Tom

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations

NUCLEIC ACIDS RESEARCH

IF13.1

2019-05-31

OAAI

Renaux, Alexandre; Papadimitriou, Sofia; Versbraegen, Nassim; Nachtegael, Charlotte; Boutry, Simon; Nowe, Ann; Smits, Guillaume; Lenaerts, Tom

Predicting disease-causing variant combinations

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2019-05-24

OAAI

Papadimitriou, Sofia; Gazzo, Andrea; Versbraegen, Nassim; Nachtegael, Charlotte; Aerts, Jan; Moreau, Yves; Van Dooren, Sonia; Nowe, Ann; Smits, Guillaume; Lenaerts, Tom

Re-sequencing transgenic plants revealed rearrangements at T-DNA inserts, and integration of a short T-DNA fragment, but no increase of small mutations elsewhere

PLANT CELL REPORTS

IF4.5

2017-02-02

OAAI

Schouten, Henk J.; vande Geest, Henri; Papadimitriou, Sofia; Bemer, Marian; Schaart, Jan G.; Smulders, Marinus J. M.; Perez, Gabino Sanchez; Schijlen, Elio

研究方向