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Bio
Elfride De Baere (°1971) obtained her M.D. and Ph.D. degree in 1996 and 2002 respectively. She is Senior Full Professor at Ghent University, Senior Clinical Investigator of the Research Foundation Flanders (FWO) and Head of Lab at the CMGG at the Ghent University Hospital. She leads the Ophthalmic and Developmental Genetics Lab of Ghent University, which is part of a Belgian reference center for the genomics of a wide variety of inherited eye disorders such as inherited retinal diseases (IRD). She is partner of several international consortia such as the European Retinal Disease Consortium (ERDC), European Reference Network for Rare Eye Diseases (ERN-EYE), and coordinator of several concerted research programs such as ‘StarT’ (H2020-MSCA-ITN-2018), ‘Precision medicine in inherited blindness’ (GOA UGent), 'Solve-RET’ (EJP RD). She is Associate Editor of Clinical Genetics, Communicating Editor of Human Mutation, and on the editorial board of Nature Scientific Reports and Genes. She serves on the scientific program committees of ARVO and ESHG. She has published >170 research papers (h-index 50), the majority in the field of Genetics, Ophthalmology and Multidisciplinary Sciences. She is president of the Belgian College of Genetics and Rare Diseases.
Her research is focused on the molecular pathogenesis of Mendelian diseases with large genetic heterogeneity such as IRD. Some of her achievements in the field of IRD genomics are the identification of novel disease genes (e.g. CEP162, NR2E3, RAX2, RIMS2, SF3B2, RCBTB1) and the characterization of new disease mechanisms. She has a special interest in noncoding variation as contributor to missing heritability of IRD, caused by cis-acting splicing variants (e.g. ABCA4); promoter/5’UTR variants (e.g. NMNAT1), cis-regulatory elements (e.g. PRDM13; IRX1), structural variants impacting the 3D genome (e.g. PRDM13; IRX1). For the functional characterization of disease genes, she makes use of integrated omics, and cellular and animal models, such as Xenopus tropicalis.
Research Interests
Papers共 378 篇Author StatisticsCo-AuthorSimilar Experts
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Genome Biologyno. 1 (2024): 1-24
AMERICAN JOURNAL OF HUMAN GENETICSno. 2 (2024): 393-402
EUROPEAN JOURNAL OF ENDOCRINOLOGYno. 1 (2024): 34-43
BIOMOLECULESno. 3 (2024): 367
Genome medicineno. 1 (2024): 7-7
Nikolas Pontikos,William Woof,Miriam Bauwens,Saoud Al-Khuzaei,Behnam Javanmardi,Michalis Georgiou,Malena Daich Varela,Thales Antonio Cabral De Guimaraes, Muhammad Moghul,Alice Davidson, Panos Sergouniotis,Jamie Ellingford,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 5-6
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Nuria Suárez-Herrera, Iris B Riswick,Irene Vázquez-Domínguez,Lonneke Duijkers,Dyah W Karjosukarso,Davide Piccolo,Miriam Bauwens,Elfride De Baere, Michael E Cheetham,Alejandro Garanto,Rob W J Collin
Molecular therapy : the journal of the American Society of Gene Therapyno. 3 (2024): 837-851
Retina (Philadelphia, Pa)no. 9 (2024): 1597-1607
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 71-71
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Author Statistics
#Papers: 379
#Citation: 11115
H-Index: 51
G-Index: 92
Sociability: 8
Diversity: 3
Activity: 55
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