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Marja Wessels

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Adaptor Protein Complex 4

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Magdalena Harakalova; Xavier Jeunemaitre; Irene Joziasse; Dick Lindhout; Jelena Medic; Isaäc J Nijman; Gerard Pals; Martin Poot; Jolien W Roos-Hesselink; Jasper J van der Smagt; Ruben van't Slot; Marjan M Weiss; Marja W Wessels; Edwin Cuppen; Carolien G F de Kovel; Jaap Deckers; Lisa Golmard; Hubert F Baars; Annette F Baas
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Lucas T Jae; Ron Kerkhoven; Dirk J Lefeber; Peter Meinecke; Matthijs Raaben; Moniek Riemersma; Haluk Topaloglu; Ellen van Beusekom; Hans van Bokhoven; Arno Velds; Marja W Wessels; Sean Whelan; Vincent A Blomen; Jan E Carette; Thijn R Brummelkamp
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
Denise van der Linde; Marja W Wessels; Jos A Bekkers; Aida M Bertoli Avella; Ad J J C Bogers; Francesco U S Mattace-Raso; Adriaan Moelker; Janneke Timmermans; Bas M van Dalen; Ingrid M B H van de Laar; Annemien E van den Bosch; Jolien Roos-Hesselink
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.

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All Publications

2013: Magdalena Harakalova; Xavier Jeunemaitre; Irene Joziasse; Dick Lindhout; Jelena Medic; Isaäc J Nijman; Gerard Pals; Martin Poot; Jolien W Roos-Hesselink; Jasper J van der Smagt; Ruben van't Slot; Marjan M Weiss; Marja W Wessels; Edwin Cuppen; Carolien G F de Kovel; Jaap Deckers; Lisa Golmard; Hubert F Baars; Annette F Baas
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
European journal of human genetics : EJHG 2013;21(5):487-93.
2013: Lucas T Jae; Ron Kerkhoven; Dirk J Lefeber; Peter Meinecke; Matthijs Raaben; Moniek Riemersma; Haluk Topaloglu; Ellen van Beusekom; Hans van Bokhoven; Arno Velds; Marja W Wessels; Sean Whelan; Vincent A Blomen; Jan E Carette; Thijn R Brummelkamp
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
Science (New York, N.Y.) 2013;340(6131):479-83.
2013: Denise van der Linde; Marja W Wessels; Jos A Bekkers; Aida M Bertoli Avella; Ad J J C Bogers; Francesco U S Mattace-Raso; Adriaan Moelker; Janneke Timmermans; Bas M van Dalen; Ingrid M B H van de Laar; Annemien E van den Bosch; Jolien Roos-Hesselink
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.
The Annals of thoracic surgery 2013;95(2):563-9.
2012: Judith M A Verhagen; Anna C Verkleij-Hagoort; Patrick J Willems; Stella A de Man; Karin E M Diderich; Frederik A du Plessis; Alex J Eggink; Irene A L Groenenberg; Lorette O M Hulsman; Grazia M S Mancini; Grétel Oudesluijs; Malgorzata Srebniak; Diane Van Opstal; Laura J C M van Zutven; Marja W Wessels
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
American journal of medical genetics. Part A 2012;158A(10):2412-20.
2012: Denise van der Linde; Fop van Kooten; Lut Van Laer; Marja W Wessels; Janneke Timmermans; Ingrid M B H van de Laar; Anton H van den Meiracker; Jos A Bekkers; Aida M Bertoli Avella; Jan M Cobben; Paul J Coucke; Julie De Backer; Anne De Paepe; Ingrid M E Frohn-Mulder; Y Hilhorst-Hofstee; Bart Loeys; Francesco U S Mattace-Raso; Adriaan Moelker; Els Moltzer; Rogier A Oldenburg; Jolien Roos-Hesselink
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
Journal of the American College of Cardiology 2012;60(5):397-403.
2012: Marja W Wessels; Patrick J Willems
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?
Clinical genetics 2012;82(1):30-2.
2012: Vanessa M French; Ingrid M E Frohn-Mulder; Wim A Helbing; Elodie Jadot; Zhengxin Jiang; Hanne Meijers-Heijboer; Edwin J Mientjes; Hossein Najmabadi; Ben A Oostra; Zohreh Rahimi; Christan Rohe; Jolien Roos-Hesselink; Robert Schot; Lies-Anne Severijnen; SM Swagemakers; Ingrid M B H van de Laar; Marianne van Tienhoven; Hanka Venselaar; Annemieke Verkerk; Guangliang Wang; Marja W Wessels; Rob Willemsen; Guido Breedveld; Bianca de Graaf; Esther de Graaff; Koen Devriendt; Jeffrey D Amack; John W Belmont; Aida M Bertoli Avella
NPHP4 variants are associated with pleiotropic heart malformations.
Circulation research 2012;110(12):1564-74.
2012: Gijs W E Santen; Irina N Snoeck; Yu Sun; Arie van Haeringen; Gert-Jan B van Ommen; Marja W Wessels; Maartje Nielsen; Els A J Peeters; Claudia Ruivenkamp; Rowida Almomani; Emmelien Aten; Martijn H Breuning; Johan T den Dunnen; Nicolette S den Hollander; Christian Gilissen; Y Hilhorst-Hofstee; Sarina G Kant; Marjolein Kriek
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Nature genetics 2012;44(4):379-80.
2011: Aimée D C Paulussen; Alexander P A Stegmann; Marinus J Blok; Demis Tserpelis; Crool Posma-Velter; Yvonne Detisch; Eric E J Smeets; Annemieke Wagemans; Jaap J P Schrander; Marie-José H van den Boogaard; Jasper van der Smagt; Arie van Haeringen; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Grazia M Mancini; Marja W Wessels; Raoul C M Hennekam; Maaike Vreeburg; Joep P M Geraedts; T J L de Ravel; Jean-Pierre Fryns; H J M Smeets; koenraad devriendt; Constance T R M Schrander-Stumpel
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Human mutation 2011;32(2):E2018-25.
2011: Ingrid M B H van de Laar; Rogier A Oldenburg; Gerard Pals; Jolien Roos-Hesselink; Bianca de Graaf; Judith M A Verhagen; Yvonne M Hoedemaekers; Rob Willemsen; Lies-Anne Severijnen; Hanka Venselaar; Gert Vriend; Peter M Pattynama; Margriet Collée; Danielle Majoor-Krakauer; Don Poldermans; Ingrid M E Frohn-Mulder; Dimitra Micha; Janneke Timmermans; Yvonne Hilhorst-Hofstee; Sita M Bierma-Zeinstra; Patrick J Willems; Johan M Kros; Edwin H G Oei; Ben A Oostra; Marja W Wessels; Aida M Bertoli Avella
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Nature genetics 2011;43(2):121-6.
2011: Samantha Maragh; Aida M Bertoli Avella; Seneca L Bessling; Bianca de Graaf; Shannon Fisher; John D Gearhart; David M McGaughey; Ronald A Miller; Eric A Stone; Marja W Wessels; Andy McCallion
Identification of RNA binding motif proteins essential for cardiovascular development.
BMC developmental biology 2011;11():62.
2010: Elisabeth M de Jong; Hannie Douben; Bert H J Eussen; Janine F Felix; Marja W Wessels; Pino J Poddighe; Peter Nikkels; Ronald R de Krijger; Dick Tibboel; Annelies de Klein
5q11.2 deletion in a patient with tracheal agenesis.
European journal of human genetics : EJHG 2010;18(11):1265-8.
2010: Yvonne M Hoedemaekers; Kadir Caliskan; Michelle Michels; Ingrid Frohn-Mulder; Jasper J van der Smagt; Judith E Phefferkorn; Marja W Wessels; Folkert J Ten Cate; Eric J G Sijbrands; Dennis Dooijes; Danielle F Majoor-Krakauer
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
Circulation. Cardiovascular genetics 2010;3(3):232-9.
2010: Marja W Wessels; Brian Kuchinka; Rogier Heydanus; Bert J Smit; Dennis Dooijes; Ronald R de Krijger; Maarten H Lequin; Elisabeth M de Jong; Margreet Husen; Patrick J Willems; Brett Casey
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
Journal of medical genetics 2010;47(5):351-5.
2010: Marlies J Valstar; Aida M Bertoli Avella; Marja W Wessels; George J G Ruijter; Bianca de Graaf; Renske Olmer; Peter Elfferich; Sanne Neijs; Roxana Kariminejad; Fatih Suheyl Ezgü; Aysegul Tokatli; Barbara Czartoryska; Ad N Bosschaart; Feikje van den Bos-Terpstra; Hugues Puissant; Friederike Bürger; Heymut Omran; D Eckert; Mirella Filocamo; Emil Simeonov; Patrick J Willems; Ron A Wevers; Martinus F Niermeijer; D J J Halley; B J H M Poorthuis; Otto P van Diggelen
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Human mutation 2010;31(5):E1348-60.
2009: Annemieke J M H Verkerk; Rachel Schot; Belinda Dumee; Karlijn Schellekens; SM Swagemakers; Aida M Bertoli Avella; Maarten H Lequin; Jeroen Dudink; Paul Govaert; A L van Zwol; Jennifer Hirst; Marja W Wessels; Coriene E Catsman-Berrevoets; Frans W Verheijen; Esther de Graaff; I F M de Coo; Johan M Kros; Rob Willemsen; Patrick J Willems; Peter van der Spek; Grazia M S Mancini
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
American journal of human genetics 2009;85(1):40-52.
2009: Marja W Wessels; Ingrid M B H van de Laar; Jolien Roos-Hesselink; Sipke Strikwerda; Danielle Majoor-Krakauer; Bert B A de Vries; Wilhelmina S Kerstjens-Frederikse; Yvonne J Vos; Bianca de Graaf; Aida M Bertoli Avella; Patrick J Willems
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
American journal of medical genetics. Part A 2009;149A(2):216-25.
2008: Marja W Wessels; Avraham Avital; Mike Failly; Analia Munoz; Heymut Omran; Jean-Louis Blouin; Patrick J Willems
Candidate gene analysis in three families with acilia syndrome.
American journal of medical genetics. Part A 2008;146A(13):1765-7.
2008: Marja W Wessels; Patrick J Willems
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Clinical genetics 2008;74(1):16-9.
2008: Marja W Wessels; Bianca de Graaf; Titia E Cohen-Overbeek; Silja E Spitaels; Lotte E de Groot-de Laat; Folkert J Ten Cate; Ingrid F M Frohn-Mulder; Ronald R de Krijger; Margot M Bartelings; Nienke Essed; Jury W Wladimiroff; Martinus F Niermeijer; Peter Heutink; Ben A Oostra; Dennis Dooijes; Aida M Bertoli Avella; Patrick J Willems
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Human genetics 2008;122(6):595-603.
2006: Paul J Coucke; Andy Willaert; Marja W Wessels; Bert Callewaert; Nicoletta Zoppi; Julie De Backer; Joyce Fox; Grazia M S Mancini; Marios Kambouris; Rita Gardella; Fabio Facchetti; Patrick J Willems; Ramses Forsyth; Harry C Dietz; Sergio Barlati; Marina Colombi; Bart Loeys; Anne De Paepe
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nature genetics 2006;38(4):452-7.
2005: Marja W Wessels; Rolf M F Berger; Ingrid M E Frohn-Mulder; Jolien Roos-Hesselink; Jeannette Hoogeboom; Grazia S Mancini; Margot M Bartelings; Ronald de Krijger; Jury W Wladimiroff; Martinus F Niermeijer; Paul Grossfeld; Patrick J Willems
Autosomal dominant inheritance of left ventricular outflow tract obstruction.
American journal of medical genetics. Part A 2005;134A(2):171-9.
2004: Marja W Wessels; Coriene E Catsman-Berrevoets; Grazia M S Mancini; Martijn H Breuning; Jeannette Hoogeboom; Hans Stroink; Ingrid M E Frohn-Mulder; Paul J Coucke; Anne De Paepe; Martinus F Niermeijer; Patrick J Willems
Three new families with arterial tortuosity syndrome.
American journal of medical genetics. Part A 2004;131(2):134-43.
2003: Paul J Coucke; Marja W Wessels; Petra Van Acker; Rita Gardella; Sergio Barlati; Patrick J Willems; Marina Colombi; Anne De Paepe
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.
Journal of medical genetics 2003;40(10):747-51.
2003: Marja W Wessels; Nicolette S den Hollander; Ronald R de Krijger; Luisa Bonifé; andrea superti-furga; Peter Nikkels; Patrick J Willems
Prenatal diagnosis of boomerang dysplasia.
American journal of medical genetics. Part A 2003;122A(2):148-54.
2003: Marja W Wessels; Nicolette J Den Hollander; Ronald R de Krijger; Peter Nikkels; Helen Brandenburg; Raoul Hennekam; Patrick J Willems
Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
American journal of medical genetics. Part A 2003;120A(1):97-104.
2003: Marja W Wessels; Nicolette S den Hollander; Patrick J Willems
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
Prenatal diagnosis 2003;23(3):239-42.
2003: Marja W Wessels; Frans J Los; Ingrid M E Frohn-Mulder; Martinus F Niermeijer; Patrick J Willems; Jury W Wladimiroff
Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation.
American journal of medical genetics. Part A 2003;116A(2):147-51.
2002: Helen Brandenburg; Ronald R de Krijger; Willy Visser; Marja W Wessels; Eric A P Steegers
[Maternal complications of fetal hydrops].
Nederlands tijdschrift voor geneeskunde 2002;146(49):2367-70.
2002: Marja W Wessels; Nicolette S den Hollander; Titia E Cohen-Overbeek; M S Lesnik Oberstein; R M Nash; Juriy W Wladimiroff; Martinus F Niermeijer; Patrick J Willems
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.
American journal of medical genetics 2002;113(1):97-100.
2002: Marja W Wessels; Patrick J Willems
Images in clinical medicine. Chondrodysplasia punctata.
The New England journal of medicine 2002;347(2):110.
2002: Nicolette S den Hollander; Marja W Wessels; Martinus F Niermeijer; Frans J Los; Juriy W Wladimiroff
Early fetal anomaly scanning in a population at increased risk of abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2002;19(6):570-4.
2002: Marja W Wessels; Alice S Brooks; Jeannette Hoogeboom; Martinus F Niermeijer; Patrick J Willems
Kabuki syndrome: a review study of three hundred patients.
Clinical dysmorphology 2002;11(2):95-102.
2000: Mieke M van Haelst; Alice S Brooks; Jeannette Hoogeboom; Marja W Wessels; Dick Tibboel; Johan C de Jongste; J C den Hollander; J J Bongers-Schokking; Martinus F Niermeijer; Patrick J Willems
Unexpected life-threatening complications in Kabuki syndrome.
American journal of medical genetics 2000;94(2):170-3.
2000: Nicolette S den Hollander; Marja W Wessels; Frans J Los; Nicolette T C Ursem; Martinus F Niermeijer; Juriy W Wladimiroff
Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2000;15(4):282-7.
1999: Marjon van Slegtenhorst; Senno Verhoef; AM Tempelaars; L Bakker; Q Wang; Marja W Wessels; R Bakker; Mark Nellist; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
Journal of medical genetics 1999;36(4):285-9.