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Aukema, S. M., ten Brinke, G. A., Timens, W., Vos, Y. J., Accord, R. E., Kraft, K. E., Santing, M. J., Morssink, L. P., Streefland, E., van Diemen, C. C., Vrijlandt, E. J. L. E., Hulzebos, C., & Kerstjens-Frederikse, W. S. (2020). A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. American Journal of Medical Genetics. Part A, 182(9), 2152-2160. https://doi.org/10.1002/ajmg.a.61743

Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P., & Kamsteeg, E-J. (2020). De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. EJHG, 28(6), 763-769. https://doi.org/10.1038/s41431-020-0600-5

Terlouw, D., Suerink, M., Singh, S. S., Gille, H. J. J. P., Hes, F. J., Langers, A. M. J., Morreau, H., Vasen, H. F. A., Vos, Y. J., van Wezel, T., Tops, C. M., ten Broeke, S. W., & Nielsen, M. (2020). Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy. European Journal of Human Genetics, 28(2), 222-230. https://doi.org/10.1038/s41431-019-0509-z

Suerink, M., Rodriguez-Girondo, M., van der Klift, H. M., Colas, C., Brugieres, L., Lavoine, N., Jongmans, M., Capella Munar, G., Evans, D. G., Farrell, M. P., Genuardi, M., Goldberg, Y., Gomez-Garcia, E., Heinimann, K., Hoell, J., Aretz, S., Jasperson, K. W., Kedar, I., Modi, M. B., ... Nielsen, M. (2019). An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. Genetics in Medicine, 21(12), 2706-2712. https://doi.org/10.1038/s41436-019-0577-z

Johansson, L. F., van Dijk-Bos, K. K., van der Hout, A. H., Knopperts, A. P., Leegte, B., ter Beest, J., Vos, Y. J., van Diemen, C. C., Kok, K., van Langen, I. M., Swertz, M. A., Wijmenga, C., Weersma, R. K., Sinke, R. J., Sikkema-Raddatz, B., Sijmons, R. H., & Westers, H. (2019). What if we would turn a diagnostic multi-cancer gene panel into a screening tool? European Journal of Human Genetics, 27, 1126-1126.

Corsten-Janssen, N., el Mecky, J., Bouman, K., Vos, Y. J., Verheij, J. B. G. M., Westers, H., Kinds, R., Scheper, A. J., Sikkema-Raddatz, B., Sinke, R. J., van Langen, I. M., Sijmons, R. H., & van Diemen, C. C. (2019). Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound. European Journal of Human Genetics, 27, 540-540.

Kerstjens-Frederikse, W. S., van der Hout, A. H., Vos, Y. J., Dijkhuizen, T., Verheij, J. B. G. M., van Langen, I. M., Sikkema-Raddatz, B., de Groot, M. J., Drok, H. H. J., Kinds, R., Beunders, G., Zonneveld-Huijssoon, E., Herkert, J. C., Vansenne, F., Wassink-Ruiter, J. S. K., Gerkes, E., van der Velde, K. J., Swertz, M. A., Sinke, R. J., & van Diemen, C. C. (2019). Rapid whole exome sequencing in critically ill children. European Journal of Human Genetics, 27, 508-509.

Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., ... Franke, L. (2019). Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. Nature Communications, 10(1), [2837]. https://doi.org/10.1038/s41467-019-10649-4

Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A-M. F., Knijnenburg, J., de Leeuw, N., van Minkelen, R., Ruivenkamp, C. A. L., Stegmann, A. P. A., Brouwer, O. F., & van Ravenswaaij-Arts, C. M. A. (2019). PRRT2-related phenotypes in patients with a 16p11.2 deletion. European journal of medical genetics, 62(4), 265-269. https://doi.org/10.1016/j.ejmg.2018.08.002

GRIN2A Study Grp, Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., De Bellescize, J., Biskup, S., Brilstra, E. H., Brouwer, O. F., Callenbach, P. M. C., Hentschel, J., Hirsch, E., Kind, P. C., Mignot, C., Platzer, K., Rump, P., Skehel, P. A., Wyllie, D. J. A., ... Lemke, J. R. (2019). GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain, 142(1), 80-92. https://doi.org/10.1093/brain/awy304

Herkert, J. C., Abbott, K. M., Birnie, E., Meems-Veldhuis, M. T., Boven, L. G., Benjamins, M., Sarvaas, G. J. D. M., Barge-Schaapveld, D. Q. C. M., van Tintelen, J. P., van der Zwaag, P. A., Vos, Y. J., Sinke, R. J., van den Berg, M. P., van Langen, I. M., & Jongbloed, J. D. H. (2018). Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. Genetics in Medicine, 20(11), 1374-1386. https://doi.org/10.1038/gim.2018.9

ten Broeke, S. W., van der Klift, H. M., Tops, C. M. J., Aretz, S., Bernstein, I., Buchanan, D. D., de la Chapelle, A., Capella, G., Clendenning, M., Engel, C., Gallinger, S., Gomez Garcia, E., Figueiredo, J. C., Haile, R., Hampel, H. L., Hopper, J. L., Hoogerbrugge, N., Doeberitz, M. V. K., Le Marchand, L., ... Win, A. K. (2018). Cancer Risks for PMS2-Associated Lynch Syndrome. Journal of Clinical Oncology, 36(29), 2961-2968. https://doi.org/10.1200/JCO.2018.78.4777

ten Broeke, S. W., Elsayed, F. A., Pagan, L., Olderode-Berends, M. J. W., Garcia, E. G., Gille, H. J. P., van Hest, L. P., Letteboer, T. G. W., van der Kolk, L. E., Mensenkamp, A. R., van Os, T. A., Spruijt, L., Redeker, B. J. W., Suerink, M., Vos, Y. J., Wagner, A., Wijnen, J. T., Steyerberg, E. W., Tops, C. M. J., ... Nielsen, M. (2018). SNP association study in PMS2-associated Lynch syndrome. Familial Cancer, 17(4), 507-515. https://doi.org/10.1007/s10689-017-0061-3

Herkert, J. C., Abbott, K. M., Birnie, E., Meems-Veldhuis, M. T., Boven, L. G., Benjamins, M., Sarvaas, G. J. D. M., Barge-Schaapveld, D. Q., van Tintelen, J. P., van der Zwaag, P. A., Vos, Y. J., Sinke, R. J., van den Berg, M. P., van Langen, I. M., & Jongbloed, J. D. (2017). A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients. Circulation, 136, [A18198].

Otter, M., Wevers, M., Pisters, M., Pfundt, R., Vos, Y., Nievelstein, R. J., & Stumpel, C. (2017). A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report. Clinical case reports, 5(8), 1213-1217. https://doi.org/10.1002/ccr3.1038

de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., & Brilstra, E. H. (2017). Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics, 18(3), 147-153. https://doi.org/10.1007/s10048-017-0517-5

Christaller, W. A. A., Vos, Y., Gebre-Medhin, S., Hofstra, R. M. W., & Schaefer, M. K. E. (2017). L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clinical Genetics, 91(1), 115-120. https://doi.org/10.1111/cge.12763

Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Van Pinxteren-Nagler, E., Willemsen, M. H., Gunning, B., de Geus, C., Veenstra, K. H. E., Lunsing, R. J., Dijkhuizen, T., Vos, Y. J., Brouwer, O. F., & Van Ravenswaaij-Arts, C. M. A. (2016). Variable phenotypes in individuals with grin2a sequence variants or deletions. Epilepsia, 57, 126. https://doi.org/10.1111/epi.13609

Zutt, R., Drost, G., Vos, Y., Elting, J. W., Miedema, I., tijssen, M. A., Brouwer, O., & de Jong, B. M. (2016). Unusual course of Lafora disease. epilepsia open, 1(3-4), 136-139. https://doi.org/10.1002/epi4.12009

van der Klift, H. M., Mensenkamp, A. R., Drost, M., Bik, E. C., Vos, Y. J., Gille, H. J. J. P., Redeker, B. E. J. W., Tiersma, Y., Zonneveld, J. B. M., Garcia, E. G., Letteboer, T. G. W., Olderode-Berends, M. J. W., van Hest, L. P., van Os, T. A., Verhoef, S., Wagner, A., van Asperen, C. J., ten Broeke, S. W., Hes, F. J., ... Tops, C. M. J. (2016). Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Human Mutation, 37(11), 1162-1179. https://doi.org/10.1002/humu.23052

Kerstjens-Frederikse, W. S., van de Laar, I. M. B. H., Vos, Y. J., Verhagen, J. M. A., Berger, R. M. F., Lichtenbelt, K. D., Wassink-Ruiter, J. S. K., van der Zwaag, P. A., Sarvaas, G. J. D. M., Bergman, K. A., Bilardo, C. M., Roos-Hesselink, J. W., Janssen, J. H. P., Frohn-Mulder, I. M., van Spaendonck-Zwarts, K. Y., Melle, van, J. P., Hofstra, R. M. W., & Wessels, M. W. (2016). Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. Genetics in Medicine, 18(9), 914-923. https://doi.org/10.1038/gim.2015.193

Vlaskamp, D. R. M., Rump, P., Callenbach, P. M. C., Vos, Y. J., Sikkema-Raddatz, B., van Ravenswaaij-Arts, C. M. A., & Brouwer, O. F. (2016). Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. European Journal of Paediatric Neurology, 20(3), 489-492. https://doi.org/10.1016/j.ejpn.2015.12.014

Suerink, M., van der Klift, H. M., ten Broeke, S. W., Dekkers, O. M., Bernstein, I., Capella Munar, G., Gomez Garcia, E., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A., Moller, P., van Os, T. A., Rahner, N., Redeker, B. J. W., Olderode, M., Spruijt, L., Vos, Y. J., ... Nielsen, M. (2016). The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genetics in Medicine, 18(4), 405-409. https://doi.org/10.1038/gim.2015.83

ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., Capella Munar, G., Garcia, E. G., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A. R., Moller, P., Van Os, T. A., Rahner, N., Redeker, B. J. W., Sijmons, R. H., Spruijt, L., ... Wijnen, J. T. (2015). Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk. Journal of Clinical Oncology, 33(4), 319-325. https://doi.org/10.1200/JCO.2014.57.8088

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J., & Frints, S. G. M. (2013). Adducted thumbs: A clinical clue to genetic diagnosis. European journal of medical genetics, 56(3), 153-158. https://doi.org/10.1016/j.ejmg.2012.11.004

Knopperts, A. P., Nielsen, M., Niessen, R. C., Tops, C. M. J., Jorritsma, B., Varkevisser, J., Wijnen, J., Siezen, C. L. E., Heine-Broring, R. C., van Kranen, H. J., Vos, Y. J., Westers, H., Kampman, E., Sijmons, R. H., & Hes, F. J. (2013). Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Familial Cancer, 12(1), 43-50. https://doi.org/10.1007/s10689-012-9570-2

Sentner, C. P., Vos, Y. J., Niezen-Koning, K. N., Mol, B., & Smit, G. P. A. (2013). Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. Journal of Inherited Metabolic Disorders, 7, 19-26. https://doi.org/10.1007/8904_2012_134

Herkert, J. C., Niessen, R. C., Olderode-Berends, M. J. W., Veenstra-Knol, H. E., Vos, Y. J., van der Klift, H. M., Scheenstra, R., Tops, C. M. J., Karrenbeld, A., Peters, F. T. M., Hofstra, R. M. W., Kleibeuker, J. H., & Sijmons, R. H. (2011). Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines. European Journal of Cancer, 47(7), 965-982. https://doi.org/10.1016/j.ejca.2011.01.013

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Krapels, P. C., de Die-Smulders, C. E. M., van Lint, F. H. M., Willekes, C., Weber, J. W., Gavilanes, A. W. D., Macville, M. V. E., Stegmann, A. P. A., Engelen, J. J. M., Bakker, J., Vos, Y. J., & Frints, S. G. M. (2011). Congenital hydrocephalus in clinical practice: A genetic diagnostic approach. European journal of medical genetics, 54(6), E542-E547. https://doi.org/10.1016/j.ejmg.2011.06.005

Sijmons, R. H., Vos, Y. J., Herkert, J. C., Bos, K. K., Holzik, M. F., Hoekstra-Weebers, J. E., Hofstra, R. M., & Hoekstra, H. J. (2010). Screening for germline DND1 mutations in testicular cancer patients. Familial Cancer, 9(3), 439-442. https://doi.org/10.1007/s10689-010-9340-y

van Riel, E., Ausems, M. G. E. M., Hogervorst, F. B. L., Kluijt, I., van Gijn, M. E., van Echtelt, J., Scheidel-Jacobse, K., Hennekam, E. F. A. M., Stulp, R. P., Vos, Y. J., Offerhaus, G. J. A., Menko, F. H., & Gille, J. J. P. (2010). A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome. Hereditary cancer in clinical practice, 8, [7]. https://doi.org/10.1186/1897-4287-8-7

Vos, Y. J., de Walle, H. E. K., Bos, K. K., Stegeman, J. A., ten Berge, A. M., Bruining, M., van Maarle, M. C., Elting, M. W., den Hollander, N. S., Hamel, B., Fortuna, A. M., Sunde, L. E. M., Stolte-Dijkstra, I., Schrander-Stumpel, C. T. R. M., & Hofstra, R. M. W. (2010). Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. JOURNAL OF MEDICAL GENETICS, 47(3), 169-175. https://doi.org/10.1136/jmg.2009.071688

Vos, Y. J., & Hofstra, R. M. W. (2010). An Updated and Upgraded L1CAM Mutation Database. Human Mutation, 31(1), E1102-E1109. https://doi.org/10.1002/humu.21172

Griseri, P., Vos, Y., Giorda, R., Gimelli, S., Beri, S., Santamaria, G., Mognato, G., Hofstra, R. M. W., Gimelli, G., & Ceccherini, I. (2009). Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). European Journal of Human Genetics, 17(4), 483-490. https://doi.org/10.1038/ejhg.2008.191

Wessels, M. W., van de Laar, I. M. B. H., Roos-Hesselink, J., Strikwerda, S., Majoor-Krakauer, D. F., de Vries, B. B. A., Kerstjens-Frederikse, W. S., Vos, Y. J., de Graaf, B. M., Bertoli-Avella, A. M., & Willems, P. J. (2009). 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, 149A(2), 216-225. https://doi.org/10.1002/ajmg.a.32594

Rump, P., Dijkhuizen, T., Sikkema-Raddatz, B., Lemmink, H. H., Vos, Y. J., Verheij, J. B. G. M., & van Ravenswaaij, C. M. A. (2008). Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2 -> qter). Clinical Genetics, 74(5), 455-462. https://doi.org/10.1111/j.1399-0004.2008.01064.x

Knops, N. B. B., Bos, K. K., Kerstjens, M., van Dael, K., & Vos, Y. J. (2008). Nephrogenic diabetes insipidus in a patient with L1 syndrome: A new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. American Journal of Medical Genetics. Part A, 146A(14), 1853-1858. https://doi.org/10.1002/ajmg.a.32386

van der Hout, A. H., Oudesluijs, G. G., Venema, A., Verheij, J. B. G. M., Mol, B. G. J., Rump, P., Brunner, H. G., Vos, Y. J., & van Essen, A. J. (2008). Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. European Journal of Human Genetics, 16(6), 673-679. https://doi.org/10.1038/sj.ejhg.5202012

Stulp, R. P., Herkert, J. C., Karrenbeld, A., Mol, B., Vos, Y. J., & Sijmons, R. H. (2008). Thyroid cancer in a patient with a germline MSH2 mutation: Case report and review of the Lynch syndrome expanding tumour spectrum. Hereditary cancer in clinical practice, 6(1), 15-21. https://doi.org/10.1186/1897-4287-6-1-15

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., Thiruvahindrapduram, B., Fiebig, A., Schreiber, S., Friedman, J., Ketelaars, C. E. J., Vos, Y. J., Ficicioglu, C., Kirkpatrick, S., Nicolson, R., ... Scherer, S. W. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477-488. https://doi.org/10.1016/j.ajhg.2007.12.009

van Tintelen, J. P., Hofstra, R. M. W., Katerberg, H., Rossenbacker, T., Wiesfeld, A. C. P., Sarvaas, G. J. D. M., Wilde, A. A. M., van Langen, I. M., Nannenberg, E. A., van der Kooi, A. J., Kraak, M., van Gelder, I. C., van Veldhuisen, D. J., Vos, Y., & van den Berg, M. P. (2007). High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. American Heart Journal, 154(6), 1130-1139. [ARTN 1130-9]. https://doi.org/10.1016/j.ahj.2007.07.038

van Tintelen, J. P., Tio, R. A., Kerstjens-Frederikse, W. S., van Berlo, J. H., Boven, L. G., Suurmeijer, A. J. H., White, S. J., den Dunnen, J. T., te Meerman, G. J., Vos, Y. J., van der Hout, A. H., Osinga, J., van den Berg, M. P., van Veldhuisen, D. J., Buys, C. H. C. M., Hofstra, R. M. W., & Pinto, Y. M. (2007). Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. Journal of the American College of Cardiology, 49(25), 2430-2439. https://doi.org/10.1016/j.jacc.2007.02.063

van der Hout, A. H., van den Ouweland, AMW., van der Luijt, RB., Gille, HJP., Bodmer, D., Bruggenwirth, H., Mulder, IM., van der Vlies, P., Elfferich, P., Huisman, M. T., ten Berge, A. M., Kromosoeto, J., Jansen, RPM., van Zon, PHA., Vriesman, T., Arts, N., Lange, MBD., Oosterwijk, J. C., Meijers-Heijboer, H., ... Hofstra, R. M. W. (2006). A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: Application in a Dutch cancer clinic setting. Human Mutation, 27(7), 654-666. https://doi.org/10.1002/humu.20340

Stulp, R. P., Vos, Y. J., Mol, B., Karrenbeld, A., de Raad, M., van der Mijle, H. J. C., & Sijmons, R. H. (2006). First report of a de novo germline mutation in the MLH1 gene. World Journal of Gastroenterology, 12(5), 809-811. https://doi.org/10.3748/wjg.v12.i5.809

Verheij, J. B. G. M., Sival, D. A., van der Hoeven, J. H., Vos, Y. J., Meiners, L. C., Brouwer, O. F., & van Essen, A. J. (2006). Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature. European Journal of Paediatric Neurology, 10(1), 11-17. https://doi.org/10.1016/j.ejpn.2005.10.004

Rump, P., Lemmink, HH., Verschuuren-Bemelmans, CC., Grootscholten, PM., Fock, JM., Hayflick, SJ., Westaway, SK., Vos, YJ., & van Essen, AJ. (2005). A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. Neurogenetics, 6(4), 201-207. https://doi.org/10.1007/s10048-005-0018-9

Schrander-Stumpel, C. T., & Vos, Y. J. (2004). Van gen naar ziekte; X-gebonden hydrocefalus en LiCAM. [From gene to disease; X-linked hydrocephalus and LiCAM]. Nederlands Tijdschrift voor Geneeskunde, 148(29), 1441 - 1443.

Kariola, R., Otway, R., Lonnqvist, KE., Raevaara, TE., Macrae, F., Vos, YJ., Kohonen-Corish, M., Hofstra, RMW., & Nystrom-Lahti, M. (2003). Two mismatch repair gene mutations found in a colon cancer patient - which one is pathogenic? HUMAN GENETICS, 112(2), 105-109. https://doi.org/10.1007/s00439-002-0866-4

Criado, GR., Aytes, AP., Martinez, F., Vos, YJ., Verlind, E., Lopez, AGM., Sanchez, IGD., & Schrander-Stumpel, C. (2003). X-linked hydrocephalus: Another two families with an L1 mutation. Genetic counseling, 14(1), 57-65.