Elfride De Baere

Elfride De Baere

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Elfride De Baere

Elfride De Baere

Publications by authors named "Elfride De Baere"

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Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.

BMC Med Genomics 2019 08 20;12(1):123. Epub 2019 Aug 20.

Department of Public Health and Primary Care, Philosophy of Medicine and Ethics Research Group, Ghent University, Campus Heymans (UZ Gent), Corneel Heymanslaan 10 - Building 6K3, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1186/s12920-019-0561-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702726PMC
August 2019

Update on the genetics of differences of sex development (DSD).

Best Pract Res Clin Endocrinol Metab 2019 Jun 13;33(3):101271. Epub 2019 Apr 13.

Division of Pediatric Endocrinology, Department of Internal Medicine and Pediatrics, Ghent University Hospital and Ghent University, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2019.04.005DOI Listing
June 2019

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing -Associated Autosomal Dominant Retinitis Pigmentosa.

Genes (Basel) 2019 05 10;10(5). Epub 2019 May 10.

Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium.

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http://dx.doi.org/10.3390/genes10050363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562693PMC
May 2019

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

Am J Ophthalmol 2019 May 23. Epub 2019 May 23.

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.014DOI Listing
May 2019

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.

Eur J Hum Genet 2018 10 3;26(10):1424-1431. Epub 2018 Jul 3.

Department of Family Medicine and Primary Health Care, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41431-018-0200-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138744PMC
October 2018

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

J Allergy Clin Immunol 2018 01 18;141(1):432-435.e7. Epub 2017 Sep 18.

Clinical Immunology Research Laboratory, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Laboratory of Immunoregulation, VIB Inflammation Research Center, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588539PMC
January 2018

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Hum Mutat 2017 11 28;38(11):1579-1591. Epub 2017 Aug 28.

Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.

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http://doi.wiley.com/10.1002/humu.23311
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http://dx.doi.org/10.1002/humu.23311DOI Listing
November 2017

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Sci Rep 2017 06 16;7(1):3702. Epub 2017 Jun 16.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41598-017-02434-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473876PMC
June 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Genet Med 2017 04 4;19(4):367-376. Epub 2016 Aug 4.

Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1038/gim.2016.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392598PMC
April 2017

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

J Med Genet 2016 09 1;53(9):575-90. Epub 2016 Jun 1.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium Department of Pediatric Immunology and Pulmonology, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2015-103690DOI Listing
September 2016

Mother and daughter became father and son: a case report.

Asian J Androl 2015 Sep-Oct;17(5):855-6

Department of Endocrinology, Ghent University Hospital, Ghent 9000, Belgium.

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http://www.ajandrology.com/preprintarticle.asp?id=145430
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http://dx.doi.org/10.4103/1008-682X.145430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577605PMC
June 2016

Colour Vision in Stargardt Disease.

Ophthalmic Res 2015 23;54(4):181-94. Epub 2015 Oct 23.

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1159/000438906DOI Listing
June 2016

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Ophthalmology 2016 06 12;123(6):1375-85. Epub 2016 Mar 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.053DOI Listing
June 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

The transcription factor FOXL2 in ovarian function and dysfunction.

Folia Histochem Cytobiol 2009 ;47(5):S43-9

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.2478/v10042-009-0062-7DOI Listing
April 2016

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination.

Pediatr Allergy Immunol 2016 Feb 1;27(1):93-6. Epub 2015 Oct 1.

Department of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium.

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http://doi.wiley.com/10.1111/pai.12455
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http://dx.doi.org/10.1111/pai.12455DOI Listing
February 2016

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Mol Genet Genomic Med 2015 Jan 15;3(1):14-29. Epub 2014 Sep 15.

McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712PMC
January 2015

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Orphanet J Rare Dis 2014 Dec 14;9:209. Epub 2014 Dec 14.

Department of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Building 3K12D, De Pintelaan 185, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1186/s13023-014-0209-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271496PMC
December 2014

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Eur J Med Genet 2014 Oct 2;57(10):576-8. Epub 2014 Sep 2.

Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2014.08.004DOI Listing
October 2014

Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus.

Authors:
Elfride De Baere

Invest Ophthalmol Vis Sci 2014 Sep 8;55(9):5636. Epub 2014 Sep 8.

Center for Medical Genetics, Ghent University, Ghent, Belgium;

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http://dx.doi.org/10.1167/iovs.14-15486DOI Listing
September 2014

Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence.

Authors:
Elfride De Baere

Hum Mutat 2014 Aug;35(8)

Ghent University and Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1002/humu.22411DOI Listing
August 2014

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

J Med Genet 2014 Jul 15;51(7):444-8. Epub 2014 Apr 15.

Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102316DOI Listing
July 2014

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy.

Retina 2013 Nov-Dec;33(10):2118-25

*Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium; †Department of Ophthalmology, Mount Sinai Medical Center, New York, New York; ‡Bannett Eye Center, Woodbury, New Jersey; and §Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1097/IAE.0b013e3182899274DOI Listing
March 2014

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):105-8. Epub 2012 Oct 5.

Department of Ophthalmology, University Hospitals of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.3109/13816810.2012.726395DOI Listing
August 2013

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Mol Vis 2012 5;18:1849-57. Epub 2012 Jul 5.

Center for Medical Genetics, Hospital Erasme, ULB, 808 route de Lennik, Brussels, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398502PMC
November 2012

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

Doc Ophthalmol 2012 Oct 19;125(2):161-8. Epub 2012 Jun 19.

University Eye Clinic, University Hospital Sveti Duh, 11. Podbrezje 26A, 10020 Zagreb, Croatia.

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http://link.springer.com/10.1007/s10633-012-9337-y
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http://dx.doi.org/10.1007/s10633-012-9337-yDOI Listing
October 2012

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

Mol Vis 2012 26;18:211-8. Epub 2012 Jan 26.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272052PMC
July 2012

FOXL2 impairment in human disease.

Horm Res Paediatr 2012 12;77(1):2-11. Epub 2012 Jan 12.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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https://www.karger.com/Article/FullText/335236
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http://dx.doi.org/10.1159/000335236DOI Listing
June 2012

Gender identity disorder in twins: a review of the case report literature.

J Sex Med 2012 Mar 6;9(3):751-7. Epub 2011 Dec 6.

Department of Sexology and Gender Problems, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1111/j.1743-6109.2011.02567.xDOI Listing
March 2012

Childhood-onset autosomal recessive bestrophinopathy.

Arch Ophthalmol 2011 Aug;129(8):1088-93

Molecular Genetics, Institute of Ophthalmology, University College London, Moorfields Eye Hospital, England.

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http://dx.doi.org/10.1001/archophthalmol.2011.197DOI Listing
August 2011

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

PLoS Genet 2011 Jul 14;7(7):e1002178. Epub 2011 Jul 14.

Department of Epidemiology, M. D. Anderson Cancer Center, Houston, Texas, USA.

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http://dx.doi.org/10.1371/journal.pgen.1002178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136437PMC
July 2011

Blepharophimosis-ptosis-epicanthus inversus syndrome.

Pediatr Int 2011 Jun;53(3):390-2

Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.

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http://dx.doi.org/10.1111/j.1442-200X.2010.03223.xDOI Listing
June 2011

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Eur J Hum Genet 2011 Mar 13;19(3). Epub 2010 Oct 13.

Molecular Genetics Laboratory, Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061995PMC
March 2011

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Hum Mutat 2010 Oct;31(10):1097-108

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.21337DOI Listing
October 2010

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Am J Med Genet A 2009 Dec;149A(12):2700-5

The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33095
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http://dx.doi.org/10.1002/ajmg.a.33095DOI Listing
December 2009