Human Genetics (VUmc)

Research output

Research output per year 1984 2008 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024

• 2566 Article
• 129 Review article
• 96 Comment/Letter to the editor
• 76 Meeting Abstract
• 197 More
  • 50 Letter
  • 48 Chapter
  • 26 Report
  • 19 Phd-Thesis - Research and graduation internal
  • 16 Erratum/Corrigendum
  • 15 Editorial
  • 9 Short survey
  • 6 Book
  • 2 Paper
  • 2 Poster
  • 1 Inaugural speech
  • 1 Conference contribution
  • 1 Abstract
  • 1 Phd-Thesis - Research and graduation external

Research output per year

Research output per year

Search results

• 2024

  A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release

  van Boven, M. A., Mestroni, M., Zwijnenburg, P. J. G., Verhage, M. & Cornelisse, L. N., 2024, (E-pub ahead of print) In: Molecular psychiatry.

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

  Open Access

• Brain Structural Network Connectivity of Formal Thought Disorder Dimensions in Affective and Psychotic Disorders

  Stein, F., Gruber, M., Mauritz, M., Brosch, K., Pfarr, J-K., Ringwald, K. G., Thomas-Odenthal, F., Wroblewski, A., Evermann, U., Steinsträter, O., Grumbach, P., Thiel, K., Winter, A., Bonnekoh, L. M., Flinkenflügel, K., Goltermann, J., Meinert, S., Grotegerd, D., Bauer, J., Opel, N., & 10 othersHahn, T., Leehr, E. J., Jansen, A., de Lange, S. C., van den Heuvel, M. P., Nenadić, I., Krug, A., Dannlowski, U., Repple, J. & Kircher, T., Apr 2024, In: Biological Psychiatry. 95, 7, p. 629-638

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

• Cerebrospinal fluid proteomics in patients with Alzheimer’s disease reveals five molecular subtypes with distinct genetic risk profiles

  Tijms, B. M., Vromen, E. M., Mjaavatten, O., Holstege, H., Reus, L. M., van der Lee, S., Wesenhagen, K. E. J., Lorenzini, L., Vermunt, L., Venkatraghavan, V., Tesi, N., Tomassen, J., den Braber, A., Goossens, J., Vanmechelen, E., Barkhof, F., Pijnenburg, Y. A. L., van der Flier, W. M., Teunissen, C. E., Berven, F. S., & 1 othersVisser, P. J., Jan 2024, In: Nature Aging. 4, 1, p. 33-47 15 p.

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

  Open Access
  4 Citations (Scopus)

• Distinctive cell-free DNA methylation characterizes presymptomatic genetic frontotemporal dementia

  Giannini, L. A. A., Boers, R. G., van der Ende, E. L., Poos, J. M., Jiskoot, L. C., Boers, J. B., van IJcken, W. F. J., Dopper, E. G., Pijnenburg, Y. A. L., Seelaar, H., Meeter, L. H., van Rooij, J. G. J., Scheper, W., Gribnau, J. & van Swieten, J. C., 1 Mar 2024, In: Annals of clinical and translational neurology. 11, 3, p. 744-756 13 p.

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

  Open Access

• DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

  van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M., Zwijnenburg, P. J. G., & 8 othersWaisfisz, Q., Alders, M., Sailer, S., Schaaf, C. P., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.

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

  Open Access

• Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing

  Faas, B. H. W., Astuti, G., Melchers, W. J. G., Reuss, A., Gilissen, C., Macville, M. V. E., Ghesquiere, S. A. I., Houben, L. M. H., Srebniak, M. I., Geeven, G., Rahamat-Langendoen, J. C., Sistermans, E. A. & Linthorst, J., Feb 2024, In: eBioMedicine. 100, p. 104983 104983.

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

  Open Access
  1 Citation (Scopus)

• ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy

  van de Leur, R. R., de Brouwer, R., Bleijendaal, H., Verstraelen, T. E., Mahmoud, B., Perez-Matos, A., Dickhoff, C., Schoonderwoerd, B. A., Germans, T., Houweling, A., van der Zwaag, P. A., Cox, M. G. P. J., Peter van Tintelen, J., Te Riele, A. S. J. M., van den Berg, M. P., Wilde, A. A. M., Doevendans, P. A., de Boer, R. A. & van Es, R., 23 Feb 2024, (E-pub ahead of print) In: Heart Rhythm.

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

  Open Access

• Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

  Hensman, J., Hahn, L. C., van Schooneveld, M. J., Diederen, R. M. H., ten Brink, J. B., Florijn, R. J., Bergen, A. A., Strubbe, I., Heutinck, P., van Genderen, M. M., van den Born, L. I., Thiadens, A. A., de Zaeytijd, J., Leroy, B. P., Hoyng, C. B. & Boon, C. J. F., 2024, (E-pub ahead of print) In: Ophthalmology Retina.

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

  Open Access
  1 Citation (Scopus)

• Elucidating the role of water in collagen self-assembly by isotopically modulating collagen hydration

  Giubertoni, G., Feng, L., Klein, K., Giannetti, G., Rutten, L., Choi, Y., van der Net, A., Castro-Linares, G., Caporaletti, F., Micha, D., Hunger, J., Deblais, A., Bonn, D., Sommerdijk, N., Šarić, A., Ilie, I. M., Koenderink, G. H. & Woutersen, S., 12 Mar 2024, In: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 121, 11, p. e2313162121

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

  Open Access

• Evaluating the effectiveness of pre-operative diagnosis of ovarian cancer using minimally invasive liquid biopsies by combining serum human epididymis protein 4 and cell-free DNA in patients with an ovarian mass

  Gaillard, D. H. K., Lof, P., Sistermans, E. A., Mokveld, T., Horlings, H. M., Mom, C. H., Reinders, M. J. T., Amant, F. & HE4 Study Group, 2024, (E-pub ahead of print) In: International journal of gynecological cancer.

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

• Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

  Meester, J. A. N., Hebert, A., Bastiaansen, M., Rabaut, L., Bastianen, J., Boeckx, N., Ashcroft, K., Atwal, P. S., Benichou, A., Billon, C., Blankensteijn, J. D., Brennan, P., Bucks, S. A., Campbell, I. M., Conrad, S., Curtis, S. L., Dasouki, M., Dent, C. L., Eden, J., Goel, H., & 26 othersHartill, V., Houweling, A. C., Isidor, B., Jackson, N., Koopman, P., Korpioja, A., Kraatari-Tiri, M., Kuulavainen, L., Lee, K., Low, K. J., Lu, A. C., McManus, M. L., Oakley, S. P., Oliver, J., Organ, N. M., Overwater, E., Revencu, N., Trainer, A. H., Trivedi, B., Turner, C. L. S., Whittington, R., Zankl, A., Zentner, D., Van Laer, L., Verstraeten, A. & Loeys, B. L., Dec 2024, In: NPJ GENOMIC MEDICINE. 9, 1, p. 22 22.

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

  Open Access

• Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women

  Becking, E. C., Scheffer, P. G., Henrichs, J., Bax, C. J., Crombag, N. M. T. H., Weiss, M. M., Macville, M. V. E., van Opstal, D., Boon, E. M. J., Sistermans, E. A., Henneman, L., Schuit, E. & Bekker, M. N., 2024, (E-pub ahead of print) In: American Journal of Obstetrics and Gynecology.

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

  Open Access

• Genetic determinants of micronucleus formation in vivo

  Tudor, C. L., Green, A. L., Mazzeo, C. I., Siragher, E., Lillistone, C., Gleeson, D., Sethi, D., Bayzetinova, T., Burvill, J., Habib, B., Weavers, L., Maswood, R., Miklejewska, E., Woods, M., Grau, E., Newman, S., Sinclair, C., Brown, E., Doe, B., Galli, A., & 23 othersRamirez-Solis, R., Ryder, E., Steel, K., Bradley, A., Skarnes, W. C., Adams, D. J., Lafont, D., Vancollie, V. E., McLaren, R. S. B., Hughes-Hallett, L., Rowley, C., Sanderson, E., Tuck, E., Dabrowska, M., Griffiths, M., Gannon, D., Cockle, N., Kirton, A., Bottomley, J., Ingle, C., Lelliott, C., White, J. K. & Sanger Mouse Genetics Project, 7 Mar 2024, In: NATURE. 627, 8002, p. 130-136 7 p.

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

  Open Access

• Human whole-exome genotype data for Alzheimer’s disease

  Leung, Y. Y., Naj, A. C., Chou, Y-F., Valladares, O., Schmidt, M., Hamilton-Nelson, K., Wheeler, N., Lin, H., Gangadharan, P., Qu, L., Clark, K., Kuzma, A. B., Lee, W-P., Cantwell, L., Nicaretta, H., van der Lee, S., English, A., Kalra, D., Muzny, D., Skinner, E., & 121 othersDoddapeneni, H., Dinh, H., Hu, J., Santibanez, J., Jayaseelan, J., Worley, K., Gibbs, R. A., Lee, S., Dugan-Perez, S., Korchina, V., Nasser, W., Liu, X., Han, Y., Zhu, Y., Liu, Y., Khan, Z., Zhu, C., Sun, F. J., Jun, G. R., Chung, J., Farrell, J., Zhang, X., Banks, E., Gupta, N., Gabriel, S., Butkiewicz, M., Benchek, P., Smieszek, S., Song, Y., Vardarajan, B., Reitz, C., Reyes-Dumeyer, D., Tosto, G., de Jager, P. L., Barral, S., Ma, Y., Beiser, A., Liu, C. T., Dupuis, J., Lunetta, K., Cupples, L. A., Choi, S. H., Chen, Y., Mez, J., Vanderspek, A., Ikram, M. A., Ahmad, S., Faber, K., Foroud, T., Mlynarski, E., Schmidt, H., Schmidt, R., Kunkle, B., Rajabli, F., Beecham, G., Vance, J. M., Adams, L. D., Cuccaro, M., Mena, P., Booth, B. M., Renton, A., Goate, A., Marcora, E., Stine, A., Feolo, M., Launer, L. J., Koboldt, D. C., Wilson, R. K., van Duijn, C., Amin, N., Kapoor, M., Salerno, W., Bennett, D. A., Xia, L. C., Malamon, J., Mosley, T. H., Satizabal, C., Jan Bressler, Jian, X., Nato, A. Q., Horimoto, A. R., Wang, B., Psaty, B., Witten, D., Tsuang, D., Blue, E., Wijsman, E., Sohi, H., Nguyen, H., Bis, J. C., Rice, K., Brown, L., Dorschner, M., Saad, M., Navas, P., Nafikov, R., Thornton, T., Day, T., Haut, J., Sha, J., Zhang, N., Iqbal, T., Zhao, Y., Below, J. E., Larson, D. E., Appelbaum, E., Waligorski, J., Antonacci-Fulton, L., Fulton, R. S., Haines, J., Farrer, L., Seshadri, S., Brkanac, Z., Cruchaga, C., Pericak-Vance, M., Mayeux, R. P., Bush, W. S., Destefano, A., Martin, E., Schellenberg, G. D. & Wang, L-S., 1 Dec 2024, In: Nature communications. 15, 1, 684.

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

  Open Access

• Improving Methylphenidate Titration in Children with Attention-Deficit/Hyperactivity Disorder (ADHD): A Randomized Controlled Trial Using Placebo-Controlled Titration Implemented in Clinical Practice

  Vertessen, K., Luman, M., Bet, P., Bergwerff, C. E., Bottelier, M., Stoffelsen, R., Swanson, J. M., Wisse, A., Twisk, J. & Oosterlaan, J., 27 Jan 2024, (E-pub ahead of print) In: Pediatric Drugs.

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

• Interest in genetic susceptibility testing and disclosure of AD dementia risk in cognitively normal adults: a survey study

  Waterink, L., Masselink, L. A., van der Lee, S. J., Visser, L. N. C., Cleutjens, S., van der Schaar, J., van Harten, A. C., Scheltens, P., Sikkes, S. A. M., van der Flier, W. M. & Zwan, M. D., 1 Dec 2024, In: Alzheimer's Research & Therapy. 16, 1, p. 1 1.

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

  Open Access

• In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells

  Claeys, L., Zhytnik, L., Ventura, L., Wisse, L. E., Eekhoff, E. M. W., Pals, G., Bravenboer, N., Heine, V. M. & Micha, D., 2 Mar 2024, In: International journal of molecular sciences. 25, 6, 3417.

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

  Open Access

• Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study

  van der Heide, M. Y. C., Verstraelen, T. E., van Lint, F. H. M., Bosman, L. P., de Brouwer, R., Proost, V. M., van Drie, E., Taha, K., Zwinderman, A. H., Dickhoff, C., Schoonderwoerd, B. A., Germans, T., Houweling, A. C., Gimeno-Blanes, J. R., van der Zwaag, P. A., de Boer, R. A., Cox, M. G. P. J., van Tintelen, J. P. & Wilde, A. A. M., 1 Apr 2024, In: Europace. 26, 4, euae069.

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

  Open Access

• Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

  Passchier, E. M. J., Bisseling, Q., Helman, G., van Spaendonk, R. M. L., Simons, C., Olsthoorn, R. C. L., van der Veen, H., Abbink, T. E. M., van der Knaap, M. S. & Min, R., 29 Feb 2024, In: Frontiers in genetics. 15, p. 1-21 21 p., 1352947.

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

  Open Access

• Neuron-to-astrocyte proteostatic stress signaling in response to tau pathology

  Batenburg, K. L. & Scheper, W., 1 Mar 2024, In: Neural Regeneration Research. 19, 3, p. 505-506 2 p.

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

  Open Access

• Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

  Efthymiou, S., Scala, M., Nagaraj, V., Ochenkowska, K., Komdeur, F. L., Liang, R. A., Abdel-Hamid, M. S., Sultan, T., Barøy, T., Van Ghelue, M., Vona, B., Maroofian, R., Zafar, F., Alkuraya, F. S., Zaki, M. S., Severino, M., Duru, K. C., Tryon, R. C., Brauteset, L. V., Ansari, M., & 9 othersHamilton, M., van Haelst, M. M., van Haaften, G., Zara, F., Houlden, H., Samarut, É., Nichols, C. G., Smeland, M. F. & McClenaghan, C., 13 Jan 2024, (E-pub ahead of print) In: Brain.

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

• Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature

  Hoogenboom, A., Falix, F. A., van der Laan, L., Kerkhof, J., Alders, M., Sadikovic, B. & van Haelst, M. M., Apr 2024, In: European journal of human genetics. 32, 4, p. 435-439 5 p.

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

  Open Access
  1 Citation (Scopus)

• Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents

  van den Heuvel, L. M., van der Pal, S. M., Verschoof-Puite, R. K., Klapwijk, J. E., Elsinghorst, E., Dekkers, E., van der Ploeg, C. P. B. & Henneman, L., 1 Mar 2024, In: International Journal of Neonatal Screening. 10, 1, 18.

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

  Open Access

• Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study

  Bogaard, H. J., Celant, L. R., Houweling, A. C. & Meijboom, L. J., 4 Apr 2024, In: European respiratory journal.

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

• Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

  van Berkel, A. A., Lammertse, H. C. A., Öttl, M., Koopmans, F., Misra-Isrie, M., Meijer, M., Dilena, R., van Hasselt, P. M., Engelen, M., van Haelst, M., Smit, A. B., van der Sluis, S., Toonen, R. F. & Verhage, M., Jan 2024, In: Biological Psychiatry Global Open Science. 4, 1, p. 284-298 15 p.

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

  Open Access
  1 Citation (Scopus)

• Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile

  Rots, D., Rooney, K., Relator, R., Kerkhof, J., McConkey, H., Pfundt, R., Marcelis, C., Willemsen, M. H., van Hagen, J. M., Zwijnenburg, P., Alders, M., Õunap, K., Reimand, T., Fjodorova, O., Berland, S., Liahjell, E. B., Bojovic, O., Kriek, M., Ruivenkamp, C., Bonati, M. T., & 4 othersBrunner, H. G., Vissers, L. E. L. M., Sadikovic, B. & Kleefstra, T., 2024, (E-pub ahead of print) In: Clinical genetics.

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

  Open Access

• Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals

  Claesen-Bengtson, Z., Bowman-Smart, H., Vermeersch, E., Vermeesch, J. R., Henneman, L. & Borry, P., Mar 2024, In: European journal of human genetics. 32, 3, p. 309-316 8 p.

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

• Should Secondary Pharmacogenomic Variants Be Actively Screened and Reported When Diagnostic Genome-Wide Sequencing Is Performed in a Child?

  Global Alliance for Genomics and Health Regulatory and Ethics Workstream, 1 Feb 2024, In: Genetics in medicine. 26, 2, p. 101033 101033.

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

  Open Access

• Tomosyns attenuate SNARE assembly and synaptic depression by binding to VAMP2-containing template complexes

  Meijer, M., Öttl, M., Yang, J., Subkhangulova, A., Kumar, A., Feng, Z., van Voorst, T. W., Groffen, A. J., van Weering, J. R. T., Zhang, Y. & Verhage, M., 1 Dec 2024, In: Nature communications. 15, 1, p. 1-20 20 p., 2652.

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

  Open Access

• Urinary incontinence more than 15 years after premenopausal risk-reducing salpingo-oophorectomy: a multicentre cross-sectional study

  Terra, L., Heemskerk-Gerritsen, B. A. M., Beekman, M. J., Engelhardt, E., Mourits, M. J. E., van Doorn, H. C., de Hullu, J. A., Mom, C. H., Slangen, B. F. M., Gaarenstroom, K. N., van Beurden, M., Roeters van Lennep, J. E., van Dorst, E. B. L., van der Kolk, L. E., Collée, J. M., Wevers, M. R., Ausems, M. G. E. M., van Engelen, K., van de Beek, I., Berger, L. P. V., & 6 othersvan Asperen, C. J., Gomez Garcia, E. B., Maas, A. H. E. M., Hooning, M. J., Steensma, A. B. & van Leeuwen, F. E., Jan 2024, In: BJOG: An International Journal of Obstetrics and Gynaecology. 131, 1, p. 99-108 10 p.

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

  Open Access
• 2023

  A 3D human co-culture to model neuron-astrocyte interactions in tauopathies

  Batenburg, K. L., Sestito, C., Cornelissen-Steijger, P., van Weering, J. R. T., Price, L. S., Heine, V. M. & Scheper, W., 1 Dec 2023, In: Biological Procedures Online. 25, 1, 4.

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

  Open Access
  5 Citations (Scopus)

• Abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, 19-23 June 2022

  van der Meij, KRM., Bekker, MN., Martin, L., Gitsels-van der Wal, JT., van Vliet-Lachotzki, E. H., Macville, M. V. E., Weiss, MM., Galjaard, R-J. H., Sistermans, EA. & Henneman, L., 1 Jan 2023, In: Prenatal diagnosis. 43, p. 3-119 117 p.

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

• A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

  Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E., & 29 othersKeena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K. D., Campeau, P. M., Millan, F., Taylor, J. A., Lochmüller, H., Higgs, M. R., Goula, A., Bernhard, B., Velasco, D. J., Schmanski, A. A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P. C., Yamamoto, S., Raun, N., Jakub, T. E., Kramer, J. M., den Hoed, J., Fisher, S. E., Brunner, H. G. & Kleefstra, T., 12 Jan 2023, In: Human Genetics and Genomics Advances. 4, 1, 100157.

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

  Open Access
  5 Citations (Scopus)

• A comprehensive performance analysis of sequence-based within-sample testing NIPT methods

  Mokveld, T., Al-Ars, Z., Sistermans, E. A. & Reinders, M., 1 Apr 2023, In: PLOS ONE. 18, 4 April, e0284493.

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

  Open Access

• A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium

  Lannoo, L., van der Meij, K. R. M., Bekker, M. N., de Catte, L., Deckers, S., Devriendt, K., Roggen, N., Galjaard, R-J. H., Gitsels-van der Wal, J., Macville, M. V. E., Martin, L., Sistermans, E. A., van Calsteren, K., van Keirsbilck, J., Crombag, N. & Henneman, L., Mar 2023, In: Prenatal diagnosis. 43, 3, p. 294-303 10 p.

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

  Open Access
  5 Citations (Scopus)

• Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits

  de Hemptinne, M. C. & Posthuma, D., Jun 2023, In: Nature neuroscience. 26, 6, p. 932-941 10 p.

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

  Open Access
  2 Citations (Scopus)

• A Human Neuron/Astrocyte Co-culture to Model Seeded and Spontaneous Intraneuronal Tau Aggregation

  Batenburg, K. L., Rohde, S. K., Cornelissen-Steijger, P., Breeuwsma, N., Heine, V. M. & Scheper, W., 1 Oct 2023, In: Current protocols. 3, 10, p. e900 e900.

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

  Open Access

• ALL-tRNAseq enables robust tRNA profiling in tissue samples

  Scheepbouwer, C., Aparicio-Puerta, E., Gomez-Martin, C., Verschueren, H., van Eijndhoven, M., Wedekind, L. E., Giannoukakos, S., Hijmering, N., Gasparotto, L., van der Galien, H. T., van Rijn, R. S., Aronica, E., Kibbelaar, R., Heine, V. M., Wesseling, P., Noske, D. P., Vandertop, W. P., de Jong, D., Pegtel, D. M., Hackenberg, M., & 3 othersWurdinger, T., Gerber, A. & Koppers-Lalic, D., 1 Mar 2023, In: Genes and Development. 37, 5-6, p. 243-257 15 p.

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

  Open Access
  8 Citations (Scopus)

• Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

  Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., van den Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W. & Bugiani, M., 1 Jul 2023, In: Physiological reports. 11, 13, p. e15737 e15737.

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

  Open Access
  1 Citation (Scopus)

• An Acute Promyelocytic Leukemia Resistant to All-Trans Retinoic Acid: A Case Report of the ZBTB16::RARa Variant and Review of the Literature

  Castelijn, D. A. R., Sijm, G., Venniker-Punt, B., Poddighe, P. J. & Wondergem, M. J., 23 Nov 2023, In: Case reports in oncology. 16, 1, p. 1443-1450

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

  Open Access

• An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1

  Feringa, F. M., van Berkel, A. A., Nair, A. & Verhage, M., 18 Jan 2023, In: The Journal of neuroscience : the official journal of the Society for Neuroscience. 43, 3, p. 347-358 12 p.

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

  Open Access
  1 Citation (Scopus)

• A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia

  Broekema, M. F., Redeker, E. J. W., Uiterwaal, M. T. & van Hest, L. P., 1 Dec 2023, In: Hereditary Cancer in Clinical Practice. 21, 1, 16.

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

  Open Access

• A novel role for MLC1 in regulating astrocyte–synapse interactions

  Kater, M. S. J., Baumgart, K. F., Badia-Soteras, A., Heistek, T. S., Carney, K. E., Timmerman, A. J., van Weering, J. R. T., Smit, A. B., van der Knaap, M. S., Mansvelder, H. D., Verheijen, M. H. G. & Min, R., Jul 2023, In: GLIA. 71, 7, p. 1770-1785 16 p.

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

  Open Access
  1 Citation (Scopus)

• A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

  van den Heuvel, L. M., Kater-Kuipers, A., van Dijk, T., Crefcoeur, L. L., Visser, G., Langeveld, M. & Henneman, L., 1 Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 134.

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

  Open Access

• A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

  Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., 1 May 2023, In: JIMD reports. 64, 3, p. 217-222 6 p.

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

  Open Access
  1 Citation (Scopus)

• Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm

  Bakhuizen, J. J., Hopman, S. M. J., Bosscha, M. I., Dommering, C. J., van den Heuvel-Eibrink, M. M., Hol, J. A., Kester, L. A., Koudijs, M. J., Langenberg, K. P. S., Loeffen, J. L. C., van der Lugt, J., Moll, A. C., van Noesel, M. M., Smetsers, S. E., de Vos-Kerkhof, E., Merks, J. H. M., Kuiper, R. P. & Jongmans, M. C. J., 3 Feb 2023, In: JAMA network open. 6, 2, p. e2254157 e2254157.

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

  Open Access
  9 Citations (Scopus)

• Associated Genetics and Connectomic Circuitry in Schizophrenia and Bipolar Disorder

  Wei, Y., de Lange, S. C., Savage, J. E., Tissink, E., Qi, T., Repple, J., Gruber, M., Kircher, T., Dannlowski, U., Posthuma, D. & van den Heuvel, M. P., 15 Jul 2023, In: Biological Psychiatry. 94, 2, p. 174-183 10 p.

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

  Open Access
  3 Citations (Scopus)

• Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

  EMBRACE Collaborators, Kast, K., John, E. M., Hopper, J. L., Andrieu, N., Noguès, C., Mouret-Fourme, E., Lasset, C., Fricker, J-P., Berthet, P., Mari, V. R., Salle, L., Schmidt, M. K., Ausems, M. G. E. M., Garcia, E. B. G., van de Beek, I., Wevers, M. R., Evans, D. G., Tischkowitz, M., Lalloo, F., & 31 othersCook, J., Izatt, L., Tripathi, V., Snape, K., Musgrave, H., Sharif, S., Murray, J., Colonna, S. V., Andrulis, I. L., Daly, M. B., Southey, M. C., de la Hoya, M., Osorio, A., Foretova, L., Berkova, D., Gerdes, A-M., Olah, E., Jakubowska, A., Singer, C. F., Tan, Y., Augustinsson, A., Rantala, J., Simard, J., Schmutzler, R. K., Milne, R. L., Phillips, K-A., Terry, M. B., Goldgar, D., van Leeuwen, F. E., Mooij, T. M. & Antoniou, A. C., 1 Dec 2023, In: Breast Cancer Research. 25, 1, 72.

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

  Open Access

• Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

  Smolen, C., Jensen, M., Dyer, L., Pizzo, L., Tyryshkina, A., Banerjee, D., Rohan, L., Huber, E., el Khattabi, L., Prontera, P., Caberg, J-H., van Dijck, A., Schwartz, C., Faivre, L., Callier, P., Mosca-Boidron, A-L., Lefebvre, M., Pope, K., Snell, P., Lockhart, P. J., & 23 othersCastiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Luana Mandarà, G. M., Bruccheri, M. G., Pichon, O., le Caignec, C., Stoeva, R., Cuinat, S., Mercier, S., Bénéteau, C., Blesson, S., Nordsletten, A., Martin-Coignard, D., Sistermans, E., Kooy, R. F., Amor, D. J., Romano, C., Isidor, B., Juusola, J. & Girirajan, S., 7 Dec 2023, In: American journal of human genetics. 110, 12, p. 2015-2028

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

• Assortative mixing in micro-architecturally annotated brain connectomes

  Bazinet, V., Hansen, J. Y., Vos de Wael, R., Bernhardt, B. C., van den Heuvel, M. P. & Misic, B., 18 May 2023, In: Nature communications. 14, 1, p. 1-16 16 p., 2850.

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

  Open Access
  9 Citations (Scopus)