Key publications

Genome-wide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2
Fischer Johannes   Degenhardt Franziska   Hofmann Andrea   Redler Silke   Basmanav F. Buket   Heilmann-Heimbach Stefanie   Hanneken Sandra   Giehl Kathrin A.   Wolff Hans   Moebus Susanne   Kruse Roland   Lutz Gerhard   Blaumeiser Bettina   Boehm Markus   Bartels Natalie Garcia   Blume-Peytavi Ulrike   Petukhova Lynn   Christiano Angela M.   Nöthen Markus   Noethen Markus M.   Betz Regina C.  
Experimental dermatology - ISSN 0906-6705-26:6 (2017) p. 536-541
Citatielink
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Loviglio M.N.   Leleu M.   Männik K.   Passeggeri M.   Giannuzzi G.   van der Werf I.   Waszak S. M.   Zazhytska M.   Roberts-Caldeira I.   Gheldof N.   Migliavacca E.   Alfaiz A. A.   Hippolyte L.   Maillard A. M.   Van Dijck Anke   Kooy Frank   Sanlaville D.   Rosenfeld J. A.   Shaffer L. G.   Andrieux J.   Marshall C.   Scherer S. W.   Shen Y.   Gusella J. F.   Thorsteinsdottir U.   Thorleifsson G.   Dermitzakis E. T.   Deplancke B.   Beckmann J. S.   Rougemont J.   Jacquemont S.   Reymond A.   Blaumeiser Bettina  
Molecular psychiatry - ISSN 1359-4184-22:6 (2017) p. 836-849
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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Meester Josephina   Vandeweyer Geert   Pintelon Isabel   Lammens Martin   Van Hoorick Lana   De Belder Simon   Waitzman Kathryn   Young Luciana   Markham Larry W.   Vogt Julie   Richer Julie   Beauchesne Luc M.   Unger Sheila   Superti-Furga Andrea   Prsa Milan   Dhillon Rami   Reyniers Edwin   Dietz Harry C.   Wuyts Wim   Mortier Geert   Verstraeten Aline   Van Laer Lut   Loeys Bart  
Genetics in medicine - ISSN 1098-3600-19:4 (2017) p. 386-395
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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
El Chehadeh Salima   Kerstjens-Frederikse Wilhelmina S.   Thevenon Julien   Loeys Bart   Vandeweyer Geert   Kooy Frank   et al.   El Chehadeh Salima   Kuentz Paul   Bruel Ange-Line   Thauvin-Robinet Christel   Bensignor Candace   Dollfus HLsne   Laugel Vincent   Riviere Jean-Baptiste   Duffourd Yannis   Bonnet Caroline   Robert Matthieu P.   Isaiko Rodica   Straub Morgane   Creuzot-Garcher Catherine   Calvas Patrick   Chassaing Nicolas   Reyniers Edwin   Hancarova Miroslava   Havlovicova Marketa   Prchalova Darina   Sedlacek Zdenek   Gilissen Christian   Pfundt Rolph   Wassink-Ruiter Jolien S. Klein   Faivre Laurence  
European journal of human genetics - ISSN 1018-4813-25:1 (2017) p. 43-51
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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
van der Werf Ilse   Van Dijck Anke   Reyniers Edwin   Helsmoortel Céline   Kumar Ajay Anand   Kalscheuer Vera M.   de Brouwer Arjan P.M.   Kleefstra Tjitske   van Bokhoven Hans   Mortier Geert   Janssens Sandra   Vandeweyer Geert   Kooy Frank  
Gene - ISSN 0378-1119-605 (2017) p. 92-98
Citatielink
Molecular genetic dissection of disease in the era of next-generation sequencing
Ajit Bolar Nikhita  
Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2017,309 p.
Citatielink
Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients
Schoonjans A.   Paelinck Bernard   Marchau F.   Gunning B.   Gammaitoni A.   Galer B. S.   Lagae L.   Ceulemans Berten  
European journal of neurology - ISSN 1351-5101-24:2 (2017) p. 309-314
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Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
Muys Joke   Blaumeiser Bettina   Jacquemyn Yves   Janssens Katrien  
Clinical Case Reports - ISSN 2050-0904-5:4 (2017) p. 440-445
Citatielink
Aetiology and management of hereditary aortopathy
Verstraeten Aline   Luyckx Ilse   Loeys Bart  
Nature reviews cardiology - ISSN 1759-5002-14:4 (2017) p. 197-208
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Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome : a cross-sectional study in 17 patients
Demirdas S.   Dulfer E.   Robert L.   Kempers M.   van Beek D.   Micha D.   van Engelen B. G.   Hamel B.   Schalkwijk J.   Loeys Bart   Maugeri A.   Voermans N. C.  
Clinical genetics - ISSN 0009-9163-91:3 (2017) p. 411-425
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Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
Brison Nathalie   Van Den Bogaert Kris   Dehaspe Luc   van den Oever Jessica M. E.   Janssens Katrien   Blaumeiser Bettina   Peeters Hilde   Van Esch Hilde   Van Buggenhout Griet   Vogels Annick   de Ravel Thomy   Legius Eric   Devriendt Koen   Vermeesch Joris R.  
Genetics in medicine - ISSN 1098-3600-19:3 (2017) p. 306-313
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Long-Term Outcome of Patients with Perimembranous Ventricular Septal Defect: Results from the Belgian Registry on Adult Congenital Heart Disease
Gabriels Charlien   De Backer Julie   Pasquet Agnes   Paelinck Bernard   Morissens Marielle   Helsen Frederik   Van De Bruaene Alexander   Budts Werner  
Cardiology - ISSN 0008-6312-136:3 (2017) p. 147-155
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The Lrp4 R1170Q homozygous knock-in mouse recapitulates the bone phenotype of sclerosteosis in humans
Boudin Eveline   Yorgan Timur   Fijałkowski Igor   Sonntag Stephan   Steenackers Ellen   Hendrickx Gretl   Peeters Silke   De Maré Annelies   Vervaet Benjamin   Verhulst Anja   Mortier Geert   d' Haese Patrick C.   Schinke Thorsten   Van Hul Wim  
Journal of bone and mineral research - ISSN 0884-0431-32:8 (2017) p. 1739-1749
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Bipolaire stoornis en comorbide brugadasyndroom : implicaties voor de behandeling met psychofarmaca
Baeten R.   Van den Bossche B.   Saenen Johan   Miljoen Hielko   Loeys Bart   Van Den Eede Filip  
Tijdschrift voor geneeskunde - ISSN 0371-683X-73:17 (2017) p. 1021-1028
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Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history
Luyckx Ilse   Proost Dorien   Hendriks Jeroen   Saenen Johan   van Craenenbroeck Emeline   Vermeulen T.   Peeters N.   Wuyts Wim   Rodrigus Inez   Verstraeten A.   Van Laer Lut   Loeys Bart  
Clinical genetics - ISSN 0009-9163-92:4 (2017) p. 444-446
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Full bibliography of this research group