Prof. Elfride De Baere

• 1996
  Doctor of Medicine (M.D.), Faculty of Medicine, Ghent University, Belgium
  
  

• 1996
  Training in Obstetrics, City Hospital NHS Trust, Birmingham, UK
  
  

• 1996 – 2000
  Ph.D. fellowship, Research Foundation Flanders (FWO), Center for Medical Genetics, Ghent University, Belgium
  
  

• 2002
  Doctor in Medical Sciences (Ph.D.)
  
  

• 2000 – 2002
  Residency in Clinical Ophthalmology, Department of Ophthalmology, Ghent University Hospital, Belgium (J.J. Delaey)
  
  

• 2003 – 2009
  FWO postdoctoral fellowship, Center for Medical Genetics, Ghent University (UGent), Belgium
  
  

• 2006
  Visiting Fellowship, Hôpital Cochin U709 INSERM, Paris, France (R.A. Veitia)
  
  

• 2007 – 2009
  Residency in Clinical Biology, Department of Clinical Chemistry, Microbiology and Immunology (G. Leroux-Roels)
  
  

• 2009
  Master of Specialist Medicine
  
  

• Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and syndromic retinal dystrophy caused by biallelic mutations in the RCBTB1 gene, implicated in ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi:10.1016/j.ajhg.2016.06.017.

• Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2016 Aug 4. doi: 10.1038/gim.2016.118. PMID: 27490115.

• Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Hum Mutat. 2015 Dec;36(12):1188-96.

• Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients. Hum Mutat. 2015 Jan;36(1):39-42.

• Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Mitotic microhomology-mediated replication-based mechanisms underly non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genetics 2013 Mar;9(3):e1003358.

• D'haene B, Attanasio C, Beysen D, 15 authors, Dekker J, Antonarakis S, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genetics, 6, e1000522, 2009.

• Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet., 1, 147-57, 2007.

• Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved non-genic sequences (CNGs) upstream and downstream of FOXL2 as novel disease-causing mechanism in BPES. Am. J. Hum. Genet., 77(2):205-18 (2005).

• De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb;72(2):478-87. PMID: 12529855.

• De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. PMID: 11468277.

• 2015 – 2019 Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications. BOF15/GOA/011 (Ghent University)

• 2014 – 2019 HiSeq: high-throughput next-generation sequencer for ultrafast and cheap decoding of whole exomes, genomes, transcriptomes, epigenomes and viromes. HERCULES type 2 (Hercules foundation)

• 2015 – 2018 EYE-splice: role of cis-acting and transacting pre-mRNA splicing dynamics in the pathogenesis and treatment of inherited blindness. FWO – G0C6715N

• 2013 – 2017 NXT-DSD: next-generation genomics for the identification of new disease genes and mechanisms in 46,XX and 46,XY disorders of sex development. Bilateral Brazilian-Belgian FWO research project G0D6713N

• 2015 – 2019 Personalized functional genomics in Mendelian eye diseases. FWO (Senior Clinical Investigator – second term). FWO – 1802215N

• 2011 – 2014 CIS-CODE: disruption of the regulatory code in hereditary conditions. FWO 3G079711

• 2013 – 2017 Initial Training Network. FP7-PEOPLE-2012-ITN, 317472

• 2013 – 2018 BeMGI: Belgian Medical Genomics Initiative. Belspo IAP-VII P7/43

• Member of the Research Council of Ghent University, since 2014

• Member of FWO expert panel Med2 (Genetics, Functional Genome Research, Bio-informatics, Developmental Biology), since 2014

• Member of the Belgian Advisory Committee on Bioethics, since 2015

• Vice-president College of Genetics, since 2012

• Associate Editor of Clinical Genetics, since 2015

• Editorial Board Member of Nature Scientific Reports

• Member of the Belgian Society of Human Genetics

• Member of the European Society of Human Genetics

• Member of the American Society of Human Genetics

• Member of the American College of Medical Genetics

• Member of the International Society for Eye Research (ISER)

• Member of The Association for Research in Vision and Ophthalmology (ARVO)

• Clinical Laboratory Geneticist in Molecular Genetics, European Society of Human Genetics.

• National Institute for Health and Disability Insurance (RIZIV). Authorised physician for medical genetics.

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