Maria Tan-Sindhunata

Research output

Research output per year 1989 2009 2010 2015 2016 2019 2022 2022

• 24 Article
• 2 Comment/Letter to the editor

Research output per year

Research output per year

Search results

• 2022

  Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (The American Journal of Human Genetics (2022) 109(6) (1140–1152), (S0002929722002051), (10.1016/j.ajhg.2022.04.018))

  Dutch NIPT Consortium, 7 Jul 2022, In: American journal of human genetics. 109, 7, p. 1344 1 p.

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

  Open Access
  4 Citations (Scopus)

• Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

  The Dutch NIPT Consortium & Dutch NIPT Consortium, 2 Jun 2022, In: American journal of human genetics. 109, 6, p. 1140-1152 13 p.

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

  Open Access
  37 Citations (Scopus)

• Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

  The Dutch NIPT Consortium & Dutch NIPT Consortium, 1 Aug 2022, In: Journal of clinical oncology. 40, 22, p. 2426-2435 10 p., JCO.21.02260.

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

• The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples—A pilot study

  Severijns, Y., Heijmans, M. W. F., de Die-Smulders, C. E. M., Bijlsma, EK., Corsten-Janssen, N., Joosten, S. J. R., van Kuijk, S. M. J., Lichtenbelt, K. D., Ottenheim, C. P. E., Stuurman, K. E., Tan-Sindhunata, G. M. B., de Vries, H. & van Osch, L. A. D. M., 2022, (E-pub ahead of print) In: Journal of genetic counseling.

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

  Open Access
  1 Citation (Scopus)
• 2021

  Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

  Tjon, J. K., Lakeman, P., van Leeuwen, E., Waisfisz, Q., Weiss, M. M., Tan-Sindhunata, G. M. B., Nikkels, P. G. J., van der Voorn, P. J. P., Salomons, G. S., Burchell, G. L., Linskens, I. H., van der Knoop, B. J. & de Vries, J. I. P., Nov 2021, In: Molecular genetics and genomic medicine. 9, 11, e1827.

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

  Open Access
  1 Citation (Scopus)
• 2019

  Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study

  Tjon, J. K., Tan-Sindhunata, G. M., Bugiani, M., Witbreuk, M. M., van der Sluijs, J. A., Weiss, M. M., van de Pol, L. A., van Weissenbruch, M. M., van der Knoop, B. J. & de Vries, J. I., 2019, In: Prenatal diagnosis. 39, 3, p. 219-231

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

  Open Access
  17 Citations (Scopus)

• TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

  The Dutch NIPT Consortium & Dutch NIPT Consortium, 5 Dec 2019, In: American journal of human genetics. 105, 6, p. 1091-1101 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  204 Citations (Scopus)
• 2018

  Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

  Van Opstal, D., van Maarle, M. C., Lichtenbelt, K., Weiss, M. M., Schuring-Blom, H., Bhola, S. L., Hoffer, M. J. V., Huijsdens-van Amsterdam, K., Macville, M. V., Kooper, A. J. A., Faas, B. H. W., Govaerts, L., Tan-Sindhunata, G. M., den Hollander, N., Feenstra, I., Galjaard, R-J. H., Oepkes, D., Ghesquiere, S., Brouwer, R. W. W., Beulen, L., & 6 othersBollen, S., Elferink, M. G., Straver, R., Henneman, L., Page-Christiaens, G. C. & Sistermans, E. A., Apr 2018, In: Genetics in medicine. 20, 5, p. 480-485 6 p.

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

  Open Access
  83 Citations (Scopus)
• 2016

  Dejerine-Sottas syndrome: Prenatal and postnatal postural and motor assessment: Prenatal and postnatal postural and motor assessment

  Burger, N. B., Adriaanse, B. M. E., Vermeulen, R. J., Tan-Sindhunata, M. B. & de Vries, J., 2 Apr 2016, In: Journal of obstetrics and gynaecology. 36, 3, p. 408-409

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
  1 Citation (Scopus)

• Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

  Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H., Krapels, I. P. C., Claes, G. R., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In: European journal of human genetics. 24, 12, p. 1783-1791

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)
• 2015

  An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation

  Bouman, A., Weiss, M. M., Jansen, S., Hankel, M. A., Nieuwint, A. W. M., Adriaanse, B. M. E., van de Kamp, J. M., Tan-Sindhunata, M. B. & Tan-Sindhunata, G., 2015, In: Clinical Dysmorphology. 24, 2, p. 68-74

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

• Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

  Tan-Sindhunata, M. B., Matthijssen, I. B., Smit, M., Baas, F., de Vries, J. I. P., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E. A., Heijboer-Meijers, J. E., Waisfisz, Q., Weiss, M. M., Groffen, A. J. A. & Mathijssen, I. B., 14 Sept 2015, In: European journal of human genetics. 23, 9, p. 1151-1157 7 p.

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

  Open Access
  33 Citations (Scopus)
• 2013

  Intra-uteriene sterfte door foetale bewegingsarmoede

  Out, R., de Groot, P. C., Tan-Sindhunata, M. B. & de Vries, J. I. P., 2013, In: Nederlands Tijdschrift voor Geneeskunde. 157, 21, A6188.

  Research output: Contribution to journal › Article › Professional
• 2012

  Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

  Roscioli, T., Kamsteeg, E. J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L. E. L. M., Schraders, M., Altunoglu, U., Buckley, M. F., Brunner, H. G., Grisart, B., Zhou, H. Q., Veltman, J. A., Gilissen, C., Mancini, G. M. S., Delree, P., & 15 othersWillemsen, M. A., Ramadza, D. P., Chitayat, D., Bennett, C., Sheridan, E., Peeters, E. A. J., Tan-Sindhunata, M. B., de Die-Smulders, C. E., Devriendt, K., Kayserili, H., El-Hashash, O. A., Stemple, D. L., Lefeber, D. J., Lin, Y. Y. & van Bokhoven, H., 2012, In: Nature Genetics. 44, 5, p. 581-585

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

  Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings

  Zwijnenburg, P. J. G., Deurloo, K. L., Waterham, H. R., Meijers-Heijboer, E. J., van Vugt, J. M. G. & Tan-Sindhunata, M. B., 2010, In: Prenatal diagnosis. 30, 2, p. 162-164

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

• The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

  Paulussen, A. D. C., Schrander-Stumpel, C. T., Tserpelis, D. C. J., Spee, M. K. M., Stegmann, A. P. A., Mancini, G. M., Brooks, A. S., Collée, M., Maat-Kievit, A., Simon, M. E. H., van Bever, Y., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Herkert, J. C., van Essen, A. J., Lichtenbelt, K. D., van Haeringen, A., Kwee, M. L., Lachmeijer, A. M. A., Tan-Sindhunata, G. M. B., & 7 othersvan Maarle, M. C., Arens, Y. H. J. M., Smeets, E. E. J. G. L., de Die-Smulders, C. E., Engelen, J. J. M., Smeets, H. J. & Herbergs, J., 2010, In: European journal of human genetics. 18, 9, p. 999-1005

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)
• 2009

  CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

  van Dijk, F. S., Nesbitt, I. M., Nikkels, P. G. J., Dalton, A., Bongers, E. M. H. F., van de Kamp, J. M., Hilhorst-Hofstee, Y., den Hollander, N. S., Lachmeijer, A. M. A., Marcelis, C. L., Tan-Sindhunata, G. M. B., van Rijn, R. R., Meijers-Heijboer, H., Cobben, J. M. & Pals, G., 2009, In: European journal of human genetics. 17, 12, p. 1560-1569

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

• Erratum: CRTAP mutations in lethal and severe osteogenesis imperfecta: The importance of combining biochemical and molecular genetic analysis (European Journal of Human Genetics (2009) vol. 17 1560-1569 10.1038/ ejhg.2009.75))

  Van Dijk, F. S., Nesbitt, I. M., Nikkels, P. G. J., Dalton, A., Bongers, E. M. H. F., van de Kamp, J. M., Hilhorst-Hofstee, Y., Den Hollander, N. S., Lachmeijer, A. M. A., Marcelis, C. L., Tan-Sindhunata, G. M. B., van Rijn, R. R., Meijers-Heijboer, H., Cobben, J. M. & Pals, G., 27 Nov 2009, In: European journal of human genetics. 17, 12, 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
• 2008

  Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype

  van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., Verbeke, J. I. L. M., Markie, D., Sugahara, K. & Robertson, S. P., 2008, In: American journal of medical genetics. Part A. 146A, 18, p. 2376-2384

  Research output: Contribution to journal › Article › Academic › peer-review
  53 Citations (Scopus)
• 2004

  Hydrops foetalis als mogelijk gevolg van erfelijke stofwisselingsziekten

  Translated title of the contribution: Hydrops fetalis as a result of inborn errors of metabolismJanssens, P. M. W., de Jong, J. G. N., Liebrand-van Sambeek, M. L. F., Wevers, R. A., de Groot, A. N. J. A., Kooper, A. J. A., Tan-Sindhunata, M. B. & Bijlsma, E. K., 1 Jul 2004, In: Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde. 29, 4, p. 184-187 4 p.

  Research output: Contribution to journal › Article › Professional
• 2001

  Phenotypic variability of cat-eye syndrome

  Berends, M. J. W., Tan-Sindhunata, G., Leegte, B. & Van Essen, A. J., 10 Apr 2001, In: Genetic counseling. 12, 1, p. 23-34 12 p.

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

  67 Citations (Scopus)
• 2000

  Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

  Tan-Sindhunata, G., Castedo, S., Leegte, B., Mulder, I., Vd Veen, A. Y., Vd Hout, A. H., Wiersma, T. J. & Van Essen, A. J., 15 May 2000, In: American journal of medical genetics. 92, 2, p. 147-152 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  19 Citations (Scopus)
• 1998

  Oncological implications of RET gene mutations in Hirschsprung's disease

  Sijmons, R. H., Hofstra, R. M. W., Wijburg, F. A., Links, T. P., Zwierstra, R. P., Vermey, A., Aronson, D. C., Tan-Sindhunata, G., Brouwers-Smalbraak, G. J., Maas, S. M. & Buys, C. H. C. M., 1 Jan 1998, In: Gut. 43, 4, p. 542-547 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  54 Citations (Scopus)
• 1996

  A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

  Hofstra, R. M. W., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsteeg, E. J., Stulp, R. P., Van Ravenswaaij-Arts, C., Majoor-Krakauer, D., Angrist, M., Chakravarti, A., Meijers, C. & Buys, C. H. C. M., 1 Apr 1996, In: Nature Genetics. 12, 4, p. 445-447 3 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  273 Citations (Scopus)
• 1995

  Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

  Sikkema‐Raddatz, B., Sijmons, R. H., Tan‐Sindhunata, M. B., Van Der Veen, A. Y., Brunsting, R., De Vries, B., Beekhuis, J. R., Bekedam, D. J., Van Aken, B. & De Jong, B., 1 Jan 1995, In: Prenatal diagnosis. 15, 5, p. 467-473 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  20 Citations (Scopus)
• 1989

  Cloning and expression in Escherichia coli of Haemophilus influenzae fimbrial genes establishes adherence to oropharyngeal epithelial cells

  van Ham, S. M., Mooi, F. R., Sindhunata, M. G., Maris, W. R. & van Alphen, L., 1 Jan 1989, In: EMBO Journal. 8, 11, p. 3535-3540 6 p.

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

  26 Citations (Scopus)