dr. Marja Wessels

Search results

• 2011

  Identification of RNA binding motif proteins essential for cardiovascular development

  Maragh, S., Miller, R., Bessling, S., McGaughey, D., Wessels, M., de Graaf, B., Stone, E., Bertoli Avella, A., Gearhart, J., Fisher, S. & McCallion, A., 2011, In: BMC Developmental Biology. 11

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

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  21 Citations (Scopus)

  14 Downloads (Pure)

• MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

  Paulussen, A., Stegmann, A., Blok, M., Tserpelis, D., Posma-Velter, C., Detisch, Y., Smeets, E., Wagemans, A., Schrander, J., van den Boogaard, M., van der Smagt, J., van Haeringen, A., Stolte-Dijkstra, I., Kerstjens-Frederikse, W., Verheijen - Mancini, G., Wessels, M., Hennekam, R., Vreeburg, M., Geraedts, J. & de Ravel, T. & 4 others, Fryns, J., Smeets, H., DeVriendt, K. & Schrander-Stumpel, C., 2011, In: Human Mutation. 32, 2, p. E2018-E2025

  Research output: Contribution to journal › Article › Academic › peer-review
  108 Citations (Scopus)

• Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

  De Graaf - van de Laar, I., Oldenburg, R., Pals, G., Roos - Hesselink, J., de Graaf, B., Verhagen, J., Hoedemaekers, Y., Willemsen, R., Severijnen, L.-A., Venselaar, H., Vriend, G., Pattynama, P., Collee, M., Majoor - Krakauer, D., Poldermans, D., Mulder, I., Micha, D., Timmermans, J., Hilhorst-Hofstee, Y. & Bierma - Zeinstra, S. & 6 others, Willems, P., Kros, J. M., Oei, E., Oostra, B., Wessels, M. & Bertoli Avella, A., 2011, In: Nature Genetics. 43, 2, p. 121-U65

  Research output: Contribution to journal › Article › Academic › peer-review
  543 Citations (Scopus)

• SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY

  Meuwissen, M., de Vries, L., Verbeek, H., Lequin, M., Govaert, P., Schot, R., Cowan, F., Hennekam, R., Rizzu, P., Verheijen, F., Wessels, M. & Verheijen - Mancini, G., 2011, In: Neurology. 76, 9, p. 844-846 3 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  48 Citations (Scopus)
• 2010

  5q11.2 deletion in a patient with tracheal agenesis

  Jong, E., Douben, H., Eussen, H., Felix, J., Wessels, M., Poddighe, P., Nikkels, P., de Krijger, R., Tibboel, D. & de Klein, A., 2010, In: European Journal of Human Genetics. 18, 11, p. 1265-1268 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  28 Citations (Scopus)

• Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

  Oegema, R., de Klein, A., Verkerk, A., Schot, R., Dumee, B., Douben, H., Eussen, H., Dubbel, R. (. )., Poddighe, P., De Graaf - van de Laar, I., Dobyns, W., van der Spek, P., Lequin, M., Coo, I., de Wit, M. C., Wessels, M. & Verheijen - Mancini, G., 2010, In: Molecular Syndromology. 1, 3, p. 113-120 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

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  42 Citations (Scopus)

  20 Downloads (Pure)

• Genetic factors in non-syndromic congenital heart malformations

  Wessels, M. & Willems, P., 2010, In: Clinical Genetics. 78, 2, p. 103-123 21 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  141 Citations (Scopus)

• Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations

  Valstar, M., Bertoli Avella, A., Wessels, M., Ruijter, G., de Graaf, B., Olmer, R., Elfferich, P., Neijs, S., Kariminejad, R., Ezgu, F., Tokatli, A., Czartoryska, B., Bosschaart, A., van den Bos-Terpstra, F., Puissant, H., Burger, F., Omran, H., Eckert, D., Filocamo, M. & Simeonov, E. & 6 others, Willems, P., Wevers, R., Niermeijer, M., Halley, D., Poorthuis, B. & Diggelen, O., 2010, In: Human Mutation. 31, 5, p. E1348-+

  Research output: Contribution to journal › Article › Academic › peer-review
  37 Citations (Scopus)

• Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

  Wessels, M., Kuchinka, B., Heydanus, R., Smit, B., Dooijes, D., de Krijger, R., Lequin, M., de Jong, E., Husen, M., Willems, P. & Casey, B., 2010, In: Journal of Medical Genetics. 47, 5, p. 351-355 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  65 Citations (Scopus)

• The importance of genetic counseling, DNA diagnostics and cardiologic family screening in left ventricular noncompaction cardiomyopathy

  Hoedemaekers, Y., Caliskan, K., Michels, M., Mulder, I., van der Smagt, J., Phefferkorn, J., Wessels, M., ten Cate, F., Sijbrands, E. J. G., Dooijes, D. & Majoor - Krakauer, D., 2010, In: Circulation-cardiovascular genetics. 3, p. 232-239 8 p.

  Research output: Contribution to journal › Article › Academic
  187 Citations (Scopus)
• 2009

  Autosomal Dominant Inheritance of Cardiac Valves Anomalies in Two Families: Extended Spectrum of Left-Ventricular Outflow Tract Obstruction

  Wessels, M., De Graaf - van de Laar, I., Roos - Hesselink, J., Strikwerda, S., Majoor - Krakauer, D., de Vries, B., Kerstjens-Frederikse, W., Vos, Y., de Graaf, B., Bertoli Avella, A. & Willems, P., 2009, In: American Journal of Medical Genetics Part A. 149A, 2, p. 216-225 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  4 Citations (Scopus)

• Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome

  Shkalim, V., Baris, H., Gal, G., Gleiss, R., Calderon, S., Wessels, M., Maat-Kievit, J., Menten, B., De Baere, E., Hennekam, R., Schirmacher, A., Bale, S., Shohat, M. & Willems, P., 2009, In: American Journal of Medical Genetics Part A. 149A, 12, p. 2700-2705 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)

• Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype

  Wilmink, F., Papatsonis, D., Grijseels, E. & Wessels, M., 2009, In: Fetal Diagnosis & Therapy. 26, 1, p. 50-53 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)

• First locus for primary pulmonary vein stenosis maps to chromosome 2q

  De Graaf - van de Laar, I., Wessels, M., Mulder, I., Dalinghaus, M., de Graaf, B., Tienhoven, M., Moer, P., Ebbinge, Lequin, M., Dooijes, D., de Krijger, R., Oostra, B. & Bertoli Avella, A., 2009, In: European Heart Journal. 30, p. 2485-2492 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  23 Citations (Scopus)

• Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

  Verkerk, A., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli Avella, A., Lequin, M., Dudink, J., Govaert, P., Zwol, A., Hirst, J., Wessels, M., Catsman - Berrevoets, C., Verheijen, F., Graaff, E., Coo, I., Kros, J. M., Willemsen, R., van der Spek, P. & Verheijen - Mancini, G., 2009, In: American Journal of Human Genetics. 85, p. 40-52 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  142 Citations (Scopus)
• 2008

  A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

  Wessels, M., de Graaf, B., Overbeek, T., Spitaels, S., Laat, L., ten Cate, F., Mulder, I., de Krijger, R., Bartelings, M., Essed, N., Wladimiroff, J., Niermeijer, M., Heutink, P., Oostra, B., Dooijes, D., Bertoli Avella, A. & Willems, P., 2008, In: Human Genetics. 122, p. 595-603 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  33 Citations (Scopus)

• Candidate gene analysis in three families with acilia syndrome

  Wessels, M., Avital, A., Failly, M., Munoz, A., Omran, H., Blouin, J. & Willems, P., 2008, In: American Journal of Medical Genetics Part A. 146A, 13, p. 1765-1767 3 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)

• Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

  Nellist, M., Sancak, O., Goedbloed, M., Adriaans, A., Wessels, M., Maat-Kievit, J., Baars, M., Dommering, C., van den Ouweland, A. & Halley, D., 2008, In: BMC Medical Genetics. 9

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

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  19 Citations (Scopus)

  14 Downloads (Pure)

• Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

  Zweier, C., Sticht, H., Bijlsma, E., Clayton-Smith, J., Boonen, S., Fryer, A., Greally, M., Hoffmann, L., Hollander, N., Jongmans, M., Kant, S., King, M., Lynch, S., Mckee, S., Midro, A., Park, S., Ricotti, V., Tarantino, E., Wessels, M. & Peippo, M. & 1 others, Rauch, A., 2008, In: Journal of Medical Genetics. 45, 11, p. 738-744 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  80 Citations (Scopus)

• Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations

  Wessels, M. & Willems, P., 2008, In: Clinical Genetics. 74, 1, p. 16-19 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)
• 2006

  Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

  Coucke, P., Willaert, A., Wessels, M., Callewaert, B., Zoppi, N., Backer, J., Fox, J., Verheijen - Mancini, G., Kambouris, M., Gardella, R., Facchetti, F., Willems, P., Forsyth, R., Dietz, H., Barlati, S., Colombi, M., Loeys, B. & de Paepe, A., 2006, In: Nature Genetics. 38, 4, p. 452-457 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  317 Citations (Scopus)
• 2005

  Autosomal dominant inheritance of left ventricular outflow tract obstruction

  Wessels, M., Berger, R., Mulder, I., Roos - Hesselink, J., Hoogeboom, J., Verheijen - Mancini, G., Bartelings, M., de Krijger, R., Wladimiroff, J., Niermeijer, M., Grossfeld, P. & Willems, P., 2005, In: American Journal of Medical Genetics Part A. 134, p. 171-179 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  72 Citations (Scopus)

• Mutations in FLNB cause boomerang dysplasia

  Bicknell, L., Morgan, T., Bonafe, L., Wessels, M., Bialer, M., Willems, P., Cohn, D., Krakow, D. & Robertson, S., 2005, In: Journal of Medical Genetics. 42, 7

  Research output: Contribution to journal › Article › Academic › peer-review

  65 Citations (Scopus)
• 2004

  Three new families with arterial tortuosity syndrome

  Wessels, M., Catsman - Berrevoets, C., Verheijen - Mancini, G., Breuning, M., Hoogeboom, J., Stroink, H., Mulder, I., Coucke, P., de Paepe, A., Niermeijer, M. & Willems, P., 2004, In: American Journal of Medical Genetics. 131, 2, p. 134-143 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  79 Citations (Scopus)
• 2003

  Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review

  Wessels, M., Hollander, N., de Krijger, R., Nikkels, P., Brandenburg, H., Hennekam, R. & Willems, P., 2003, In: American Journal of Medical Genetics. 120A, p. 97-104 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  20 Citations (Scopus)

• Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

  Coucke, P., Wessels, M., van Acker, P., Gardella, R., Barlati, S., Willems, P., Colombi, M. & de Paepe, A., 2003, In: Journal of Medical Genetics. 40, 10, p. 747-751 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  48 Citations (Scopus)

• Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome

  Wessels, M., Hollander, N. & Willems, P., 2003, In: Prenatal Diagnosis. 23, 3, p. 239-242 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

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  40 Citations (Scopus)

  105 Downloads (Pure)

• Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation

  Wessels, M., Los, F., Mulder, I., Niermeijer, M., Willems, P. & Wladimiroff, J., 2003, In: American Journal of Medical Genetics. 116, p. 147-151 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  26 Citations (Scopus)

• Prenatal diagnosis of boomerang dysplasia

  Wessels, M., Hollander, N., de Krijger, R., Bonife, L., Superti, P., Nikkels, P. & Willems, P., 2003, In: American Journal of Medical Genetics. 122A, p. 148-154 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  10 Citations (Scopus)
• 2002

  Early fetal anomaly scanning in a population at increased risk of abnormalities

  Hollander, N., Wessels, M., Niermeijer, M., Los, F. & Wladimiroff, J., 2002, In: Ultrasound in Obstetrics & Gynecology. 19, p. 570-574 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  27 Citations (Scopus)

• Images in clinical medicine. Chondrodysplasia punctata

  Wessels, M. & Willems, P., 2002, In: New England Journal of Medicine. 347, 2, p. 110-110 1 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Kabuki syndrome: a review study of three hundred patients

  Wessels, M., Brooks, A., Hoogeboom, J., Niermeijer, M. & Willems, P., 2002, In: Clinical Dysmorphology. 11, 2, p. 95-102 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  99 Citations (Scopus)

• Maternale complicaties bij hydrops foetalis.

  Brandenburg, H., de Krijger, R., Visser, W., Wessels, M. & Steegers, E., 2002, In: Nederlands Tijdschrift voor Geneeskunde. 146, 49, p. 2367-2370 4 p.

  Research output: Contribution to journal › Article › Academic

  4 Citations (Scopus)

• Prenatal diagnosis and confirmation of Acrofacial Dysostosis Syndrome type Rodriguez

  Wessels, M., Hollander, N., Overbeek, T., Lesnik Oberstein, M., Nash, R., Wladimiroff, J., Niermeijer, M. & Willems, P., 2002, In: American Journal of Medical Genetics. 113, p. 97-100 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  16 Citations (Scopus)
• 2000

  Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance

  Hollander, N., Wessels, M., Los, F., Ursem, N., Niermeijer, M. & Wladimiroff, J., 2000, In: Ultrasound in Obstetrics & Gynecology. 15, p. 282-287 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

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  35 Citations (Scopus)

  98 Downloads (Pure)

• Prenatal ultrasonographic diagnosis of posteromedial bowing of the leg: two case reports

  Zollinger, P., Wessels, M., Wladimiroff, J. & Diepstraten, A., 2000, In: Ultrasound in Obstetrics & Gynecology. 15, p. 150-153 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  10 Citations (Scopus)

• Unexpected life-threatening complications in Kabuki syndrome

  Haelst, M., Brooks, A., Hoogeboom, A., Wessels, M., Tibboel, D., Jongste, J., Hollander, J., Bongers-Schokking, J., Niermeijer, M. & Willems, P., 2000, In: American Journal of Medical Genetics. 94, p. 170-173 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  27 Citations (Scopus)
• 1999

  Prenatal ultrasonographic diagnosis of posteromedial bowing of the leg: two case reports

  Zollinger, P., Wessels, M., Wladimiroff, J. & Diepstraten, A., 1999, In: Ultrasound in Obstetrics & Gynecology. 13, p. 1-4 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review