Publications in the spotlight

Intrapericardial cavernous hemangioma : an unusual mediastinal tumor!
Cogen Anouschka   Haine Steven   Paelinck Bernard   van Herck Paul   Pauwels Patrick   van Schil Paul  
Acta cardiologica - ISSN 0001-5385-75:1 (2020) p. 93-94
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Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly
Stouffs Katrien   Verloo Patrick   Brock Stefanie   Régal Luc   Beysen Diane   Ceulemans Berten   Jansen Anna C.   Meuwissen Marije  
Frontiers in genetics - ISSN 1664-8021-11 (2020)
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Loss of ADAMTS19 causes progressive non-syndromic heart valve disease
Wuennemann Florian   Ta-Shma Asaf   Preuss Christoph   Leclerc Severine   van Vliet Patrick Piet   Oneglia Andrea   Thibeault Maryse   Nordquist Emily   Lincoln Joy   Scharfenberg Franka   Becker-Pauly Christoph   Hofmann Philipp   Hoff Kirstin   Audain Enrique   Kramer Hans-Heiner   Makalowski Wojciech   Nir Amiram   Gerety Sebastian S.   Hurles Matthew   Comes Johanna   Fournier Anne   Osinska Hanna   Robins Jeffrey   Puceat Michel   Elpeleg Orly   Hitz Marc-Phillip   Andelfinger Gregor   Dietz Harry C.   McCallion Andrew S.   Loeys Bart   Van Laer Lut   Eriksson Per   Mohamed Salah A.   Mertens Luc   Franco-Cereceda Anders   Mital Seema  
Nature genetics - ISSN 1061-4036-52:1 (2020) p. 40-+
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GABAergic abnormalities in the fragile X syndrome
Van der Aa Nathalie   Kooy Frank  
European journal of paediatric neurology - ISSN 1090-3798-24 (2020) p. 100-104
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Memory $CD4^{+}$ T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus
De Neuter Nicolas   Bartholomeus Esther   Elias George   Keersmaekers Nina   Suls Arvid   Jansens Hilde   Smits Evelien   Hens Niel   Beutels Philippe   van Damme Pierre   Mortier Geert   Van Tendeloo Vigor   Laukens Kris   Meysman Pieter   Ogunjimi Benson  
Genes and immunity - ISSN 1466-4879-20:3 (2019) p. 255-260
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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome
Ergoren Mahmut Cerkez   Turkgenc Burcu   Terali Kerem   Rodoplu Orhan   Verstraeten Aline   Van Laer Lut   Mocan Gamze   Loeys Bart   Tetik Omer   Temel Sehime G.  
Connective tissue research - ISSN 0300-8207-60:2 (2019) p. 146-154
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Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease
Meester Josephina   Verstraeten Aline   Alaerts Maaike   Schepers Dorien   Van Laer Lut   Loeys Bart  
Clinical genetics - ISSN 0009-9163-95:1 (2019) p. 85-94
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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection : further delineation of the phenotype
Cannaerts Elyssa   Kempers Marlies   Maugeri Alessandra   Marcelis Carlo   Gardeitchik Thatjana   Richer Julie   Micha Dimitra   Beauchesne Luc   Timmermans Janneke   Vermeersch Paul   Meyten Nathalie   Chénier Sébastien   van de Beek Gerarda   Peeters Nils   Alaerts Maaike   Schepers Dorien   Van Laer Lut   Verstraeten Aline   Loeys Bart  
Journal of medical genetics - ISSN 0022-2593-56:4 (2019) p. 220-227
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Clinical, molecular genetics and therapeutic aspects of syndromic obesity
Geets Ellen   Meuwissen Marije   Van Hul Wim  
Clinical genetics - ISSN 0009-9163-95:1 (2019) p. 23-40
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Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
Van Dijck Anke   Vulto-van Silfhout Anneke T.   Cappuyns Elisa   van der Werf Ilse   Mancini Grazia M.   Tzschach Andreas   Bernier Raphael   Gozes Illana   Eichler Evan E.   Romano Corrado   Lindstrand Anna   Nordgren Ann   Kvarnung Malin   Kleefstra Tjitske   de Vries Bert B.A.   Küry Sébastien   Rosenfeld Jill A.   Meuwissen Marije   Vandeweyer Geert   Kooy Frank   Bakshi Madhura   Wilson Meredith   Berman Yemina   Dickson Rebecca   Fransen Erik   Helsmoortel Céline   van den Ende Jenneke   Van der Aa Nathalie   van de Wijdeven Marina J.   Rosenblum Jessica   Monteiro Fabiola   Kok Fernando   Quercia Nada   Bowdin Sarah   Dyment David   Chitayat David   Alkhunaizi Ebba   Boonen Susanne E.   Keren Boris   Jacquette Aurelia   Faivre Laurence   Bezieau Stephane   Isidor Bertrand   Riess Angelika   Moog Ute   Lynch Sally Ann   McVeigh Terri   Elpeleg Orly   Smeland Marie Falkenberg   Slattery Leah  
Biological psychiatry - ISSN 0006-3223-85:4 (2019) p. 287-297
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Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)
Ebo Didier   Blaumeiser Bettina   Kooy Frank   Beckers Sigri   Van Gasse Athina   Saerens Michael   Spinhoven Maarten   Sabato Vito   Poirel Hélène A.  
The journal of allergy and clinical immunology. In practice - ISSN 2213-2198-7:4 (2019) p. 1352-+
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Spectrum of movement disorders in 18p deletion syndrome
Crosiers David   Blaumeiser Bettina   Van Goethem Gert  
Movement Disorders Clinical Practice - ISSN 2330-1619-6:1 (2019) p. 70-73
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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
Gould Russell A.   Aziz Hamza   Woods Courtney E.   Seman-Senderos Manuel Alejandro   Sparks Elizabeth   Preuss Christoph   Wunnemann Florian   Bedja Djahida   Moats Cassandra R.   McClymont Sarah A.   Rose Rebecca   Sobreira Nara   Ling Hua   MacCarrick Gretchen   Kumar Ajay   Luyckx Ilse   Cannaerts Elyssa   Verstraeten Aline   Bjork Hanna M.   Lehsau Ann-Cathrin   Jaskula-Ranga Vinod   Lauridsen Henrik   Shah Asad A.   Bennett Christopher L.   Ellinor Patrick T.   Lin Honghuang   Isselbacher Eric M.   Cardenas Christian Lacks Lino   Butcher Jonathan T.   Hughes G. Chad   Lindsay Mark E.   Mertens Luc   Franco-Cereceda Anders   Verhagen Judith M. A.   Wessels Marja   Mohamed Salah A.   Eriksson Per   Mital Seema   Van Laer Lut   Loeys Bart   Andelfinger Gregor   McCallion Andrew S.   Dietz Harry C.   Valle David   Lupski James  
Nature genetics - ISSN 1061-4036-51:1 (2019) p. 42-50
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha Katta M.   von Elsner Leonie   Neethukrishna Kausthubham   Muranjan Mamta   Shukla Anju   Bhavani Gandham SriLakshmi   Nishimura Gen   Kutsche Kerstin   Mortier Geert  
Human mutation - ISSN 1059-7794-40:3 (2019) p. 299-309
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Comparison of biomechanical properties in ascending aortic aneurysms of patients with congenital bicuspid aortic valve and Marfan syndrome
Yan Junfeng   Lehsau Ann-Cathrin   Sauer Benjamin   Pieper Barbara   Mohamed Salah A.   Loeys Bart   Dietz Harry C.   Van Laer Lut   McCallion Andrew S.   Eriksson Per   Franco-Cereceda Anders   Mertens Luc   Mital Seema   Andelfinger Gregor   Mohamed Salah A. C.  
International journal of cardiology - ISSN 0167-5273-278 (2019) p. 65-69
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Full bibliography of this research group