Human Genetics (AMC)

Research output

Research output per year 1988 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024

• 1687 Article
• 95 Review article
• 79 Comment/Letter to the editor
• 29 Chapter
• 74 More
  • 28 Phd-Thesis - Research and graduation internal
  • 19 Editorial
  • 8 Erratum/Corrigendum
  • 7 Letter
  • 4 Other contribution
  • 3 Book editing
  • 2 Poster
  • 1 Conference contribution
  • 1 Meeting Abstract
  • 1 Preprint

Research output per year

Research output per year

Search results

• 2023

  Serine Deficiency Disorders

  van der Crabben, S. N. & de Koning, T. J., 22 Jun 2023, GeneReviews.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2022

  Verklarende Mechanismen

  Clur, S. A. B. B., Engelberts, A., Liebrechts-Akkerman, G. & Nannenberg, E. A., 2022, Wiegendood Kennis en Praktijk: Een uitgave van de Vereniging Ouders van Wiegedoodkinderen en de Expertisegroep Wiegendood van de Nederlandse Vereniging voor Kindergeneeskunde. Kanits, F. (ed.).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
• 2020

  Introduction to Molecular Genetics

  Jongbloed, J. D. H., Lekanne Deprez, R. H. & Vatta, M., 1 Jan 2020, Clinical Cardiogenetics: Third Edition. Springer International Publishing, p. 3-26 (Clinical Cardiogenetics: Third Edition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases

  Nannenberg, E. A. & Arens, Y., 1 Jan 2020, Clinical Cardiogenetics: Third Edition. Springer International Publishing, p. 457-461 (Clinical Cardiogenetics: Third Edition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2017

  Trichorhinophalangeal Syndrome

  Maas, S., Shaw, A., Bikker, H. & Hennekam, R. C. M., 2017, GeneReviews. Adam, M. P., Ardinger, H. H., Pagon, R. A., Wallace, S. E., Bean, L. J. H., Stephens, K. & Amemiya, A. (eds.). Seattle: University of Washington, 20 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

  Open Access
• 2016

  Acquired and other retinal diseases (including juvenile X-linked retinoschisis)

  van Schooneveld, M. J. & Keunen, J. E. E., 1 Jan 2016, Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, Fifth Edition. Elsevier, p. 537-545 (Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, Fifth Edition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Human genetics of cardiomyopathies

  Vermeer, A. M. C., Wilde, A. A. M. & Christiaans, I., 2016, Congenital heart diseases: the broken heart; clinical features, human genetics and molecular pathways. Rickert-Sperling, S., Kelly, R. G. & Driscoll, D. J. (eds.). Wenen: Springer-Verlag, p. 675-686

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• IGF2, H19, CDKN1C and KCNQ1OT1 and the Beckwith-Wiedemann Syndrome

  Mannens, M., Temple, I. K. & Brioude, F., 2016, Epstein’s inborn errors of development: The molecular basis of clinical disorders of morphogenesis. Erickson, R. P. & Wynshaw-Boris, A. J. (eds.). 3th ed ed. Oxford University Press, p. 965-971

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2014

  Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

  Christiaans, I., Nannenberg, E. A., Dooijes, D., Jongbloed, R. J. E., Michels, M., Postema, P. G., Majoor-Krakauer, D., Van Den Wijngaard, A., Mannens, M. M. A. M., Van Tintelen, J. P., Van Langen, I. M. & Wilde, A. A. M., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu von Loghum, p. 37-42 6 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Founder mutations in the Netherlands: Familial idiopathic ventricular fibrillation and DPP6

  Postema, P. G., Christiaans, I., Hofman, N., Alders, M., Koopmann, T. T., Bezzina, C. R., Loh, P., Zeppenfeld, K., Volders, P. G. A. & Wilde, A. A. M., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu Van Loghum, p. 29-35 (Founder Mutations in Inherited Cardiac Diseases in the Netherlands).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide

  Postema, P. G., van den Berg, M. P., van Tintelen, J. P., van den Heuvel, F., Grundeken, M., Hofman, N., van der Roest, W. P., Nannenberg, E. A., Krapels, I. P. C., Bezzina, C. R. & Wilde, A. A. M., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu Van Loghum, p. 21-27 (Founder Mutations in Inherited Cardiac Diseases in the Netherlands).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Recurrent and founder mutations in the Netherlands: Cardiac Troponin i (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

  Van Den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., Van Den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R. & Smeets, B. J. M., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu van Loghum, p. 43-50 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Recurrent and founder mutations in the Netherlands: The cardiac phenotype of des founder mutations p.S13F and p.N342D

  van Spaendonck-Zwarts, K. Y., van der Kooi, A. J., van den Berg, M. P., Ippel, E. F., Boven, L. G., Yee, W. C., van den Wijngaard, A., Brusse, E., Hoogendijk, J. E., Doevendans, P. A., de Visser, M., Jongbloed, J. D. H. & van Tintelen, J. P., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu Van Loghum, p. 59-68 (Founder Mutations in Inherited Cardiac Diseases in the Netherlands).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Recurrent and Founder Mutations in the Netherlands: The Long-QT Syndrome

  Hofman, N., Jongbloed, R., Postema, P. G., Nannenberg, E., Alders, M. & Wilde, A. A. M., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu Van Loghum, p. 13-19 (Founder Mutations in Inherited Cardiac Diseases in the Netherlands).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Recurrent and founder mutations in the Netherlands - Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

  Van Der Zwaag, P. A., Van Rijsingen, I. A. W., De Ruiter, R., Nannenberg, E. A., Groeneweg, J. A., Post, J. G., Hauer, R. N. W., Van Gelder, I. C., Van Den Berg, M. P., Van Der Harst, P., Wilde, A. A. M. & Van Tintelen, J. P., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn, Stafleu, van Loghum, p. 81-87 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  1 Citation (Scopus)
• 2013

  Purine and pyrimidine metabolism

  Kamatani, N., Jinnah, H. A., Hennekam, R. C. M. & van Kuilenburg, A. B. P., 2013, Emery and Rimoin's Principles and Practice of Medical Genetics. Rimoin, D., Pyeritz, R. & Korf, B. (eds.). S.l.: Elsevier Science Publishing, p. 1-38 38 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  3 Citations (Scopus)
• 2011

  Connective tissue disorders and smooth muscle disorders in Cardiology

  van Engelen, K. & Mulder, B. J. M., 2011, Clinical Cardiogenetics. Baars, H. F., van der Smagt, J. J. & Doevendans, P. A. F. M. (eds.). London: Springer-Verlag, p. 263-282 20 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  2 Citations (Scopus)

• Introduction to molecular genetics

  Mannens, M. & Smeets, E., 2011, Clinical Cardiogenetics. Baars, H. F., van der Smagt, J. J. & Doevendans, P. A. F. M. (eds.). London: Springer-Verlag, p. 3-21

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2010

  Parental chromosome testing

  Goddijn, M. & Leschot, N. J., 2010, Early Pregnancy. Farquharson, R. G. & Stephenson, M. D. (eds.). New York: Cambridge Universtiy Press

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

  1 Citation (Scopus)
• 2009

  The Therapeutic Potential of LNA-Modified siRNAs: Reduction of Off-Target Effects by Chemical Modification of the siRNA Sequence

  Fluiter, K., Mook, O. R. F. & Baas, F., 2009, siRNA and miRNA Gene Silencing. Sioud, M. (ed.). New York: Humana Press, p. 189-203 (Methods in Molecular Biology; no. 487).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

  56 Citations (Scopus)
• 2007

  Een familie met een aantal malen plotselinge hartdood

  Nannenberg, E. A., Wilde, A. A. M. & van Langen, I. M., 2007, Probleemgeoriënteerd denken in de genetica in klinisch en ethisch perspectief. Leschot, N. J. & Willems, D. L. (eds.). Utrecht: De Tijdstroom, p. 267-276

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional

• Een pasgeborene met een prenataal ontdekte hartafwijking

  Mathijssen, I. B., 2007, Probleemgeoriënteerd denken in de genetica in klinisch en ethisch perspectief. Leschot, N. J. & Willems, D. L. (eds.). Utrecht: De Tijdstroom, p. 145-150

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional

• Een patient met hereditaire opticusneuropathie van Leber

  Plomp, A. S., 2007, Probleemgeoriënteerd denken in de genetica in klinisch en ethisch perspectief. Leschot, N. J. & Willems, D. L. (eds.). Utrecht: De Tijdstroom, p. 295-300

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional

• Syncope bij patiënt met een familieanamnese voor plotselinge dood.

  Nannenberg, E. A. & Wilde, A. A. M., 2007, Probleemgeoriënteerd denken in de cardiologie. Hovingh, G. K. & Somsen, G. A. (eds.). Utrecht: De Tijdstroom, p. 109-122

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
• 2005

  Beckwith-Wiedemann syndrome

  Tycko, B. & Mannens, M. M. A. M., 2005, Encyclopedia of genetics, genomics, proteomics and bioinformatics 1. Jorde, L. B., Little, P. F. R. & Dunn, M. J. (eds.). S.l.: Wiley, p. 259-ev

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

• Molecular Genetics of Holt–Oram Syndrome

  Barnett, P. & Postma, A. V., 2005, Encyclopedia of life sciences (eLS). N., N. (ed.). Chichester: John Wiley & Sons Ltd, p. 10.1002/9780470015902.a0024329

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2004

  Conclusies

  Leschot, N. J. & Willems, D. L., 2004, De genetische ontrafeling van veelvoorkomende aandoeningen. Leschot, N. J. & Willems, D. L. (eds.). Maarssen: Elsevier gezondheidszorg, p. 151-160

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
• 2003

  Quantification of mRNA using linear regression of log-linear pcr data-points as an alternative for the standard curve approach

  Ramakers, C., Timmer, D. C., Bakker, O., Lekanne dit Deprez, R. H., Ruijter, J. M. & Moorman, A. F. M., 2003, Rapid Cycle real-time PCR - Methods and applications. Wittwer, C., Hahn, M. & Kaul, K. (eds.). S.l.: Springer, p. 21-29

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2002

  Beckwith-Wiedemann syndrome

  Mannens, M. M. A. M., 2002, Pathology & Genetics. Tumours of soft tissue and bone. Fletcher, C. D. M., Unni, K. K. & Mertens, F. (eds.). S.l.: WHO Classification of tumours, p. 354-355

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review