Myrthe van den Born

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11 Article

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Reilly, M. L., Ain, N. U., Muurinen, M., Tata, A., Huber, C., Simon, M., Ishaq, T., Shaw, N., Rusanen, S., Pekkinen, M., Högler, W., Knapen, M. F. C. M., van den Born, M., Saunier, S., Naz, S., Cormier-Daire, V., Benmerah, A. & Makitie, O., Sept 2022, In: Journal of Bone and Mineral Research. 37, 9, p. 1642-1652 11 p.
Research output: Contribution to journal › Article › Academic › peer-review

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Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing
Chavli, E., van den Born, M., Eleveld, C., Boter, M., van Marion, R., Hoefsloot, L., Laven, J., Baart, E. & Van Opstal, D., Nov 2022, In: Reproductive BioMedicine Online. 45, 5, p. 867-877 11 p.
Research output: Contribution to journal › Article › Academic › peer-review

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3 Citations (Scopus)

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., & 35 othersChong, K., Cueto-González, A. M., Dempsey, J. C., Diderich, K. E. M., Doherty, D., Farholt, S., Gerkes, E. H., Gorokhova, S., Govaerts, L. C. P., Gregersen, P. A., Hickey, S. E., Lefebvre, M., Mari, F., Martinovic, J., Northrup, H., O'Leary, M., Parbhoo, K., Patrier, S., Popp, B., Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson, E., Vulto-van Silfhout, A. T., Zahir, F. R., Scott, H. S., Earl, R. K., Eichler, E. E., Vora, N. L., Wilnai, Y., Giordano, J. L., Wapner, R. J., Rosenfeld, J. A., Haak, M. C. & Santen, G. W. E., Aug 2022, In: Genetics in Medicine. 24, 8, p. 1753-1760 8 p.
Research output: Contribution to journal › Article › Academic › peer-review
2 Citations (Scopus)
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
Verhagen, J. M. A., Burger, J., Bekkers, J. A., Den Dekker, A. T., von der Thüsen, J. H., Zajec, M., Brüggenwirth, H. T., van der Sterre, M. L. T., van den Born, M., Luider, T. M., van IJcken, W. F. J., Wessels, M. W., Essers, J., Roos-Hesselink, J. W., van der Pluijm, I., van de Laar, I. M. B. H. & Brosens, E., Jan 2022, In: International Journal of Molecular Sciences. 23, 1, 438.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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4 Citations (Scopus)

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
Vissers, L., Kalvakuri, S., de Boer, E., Geuer, S., Oud, M., van Outersterp, I., Kwint, M., Witmond, M., Kersten, S., Polla, DL., Weijers, D., Begtrup, A., McWalter, K., Ruiz, A., Gabau, E., Morton, JEV., Griffith, C., Weiss, K., Gamble, C., Bartley, J., & 52 othersVernon, HJ., Brunet, K., Ruivenkamp, C., Kant, S., Kruszka, P., Larson, AM., Afenjar, A., Billette de Villemeur, T., Nugent, KM., Raymond, FL., Venselaar, H., Demurger, F., Soler-Alfonso, C., Li, D., Bhoj, EJ., Hayes, I., Powell Hamilton, N., Ahmed, A., Fisher, R., van den Born, M., Willems, M., Sorlin, A., Delanne, J., Moutton, S., Christophe, OD., Tran Mau-Them, F., Vitobello, A., Goel, H., Massingham, L., Phornphutkul, C., Schwab, JO., Keren, B., Charles, P., Vreeburg, M., Simone, L., Hoganson, GE., Iascone, M., Milani, D., Evenepoel, L., Revencu, N., Isum Ward, D., Burns, K., Krantz, ID., Raible, SE., Murrell, JR., Wood, K., Cho, M. T., van Bokhoven, H., Muenke, M., Kleefstra, T., Bodmer, R. & Brouwer, A., 2020, In: American Journal of Human Genetics. 107, 1, p. 164-172 9 p.
Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Myrthe van den Born

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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Myrthe van den Born

Fingerprint

Network

Research output

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay