Yvette van Ierland

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19 Article
1 Doctoral Thesis

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Celeste Simon, M., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Da Silva, R. P., Li, D. & March, M. & 100 others, Diaz-Rosado, A., de Barcelos, I. P., Choa, Z. X., Lim, C. Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., van Haeringen, A., Snoeck-Streef, I., Chow, P., Hing, A., Graham, J. M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M. F., Kumar, A., Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., van Ierland, Y., Wilke, M., van Slegtenhorst, M., Koudijs, S., Chen, J. Y., Dredge, D., Pier, D., Wortmann, S., Kamsteeg, E. J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A. S., Weber, S., de la Fuente, R. P., del Pozo, J. S., Rosales, J. M. L., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Mau-Them, F. T., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A. M., Tan, T. Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T. G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F. J., Kuechler, A., Busk, Ø. L., Islam, L., Siedlik, J. A., Henderson, L. B., Juusola, J., Person, R., Schnur, R. E., Vitobello, A., Banka, S., Bhoj, E. J. & Stessman, H. A. F., 10 Mar 2023, In: Science advances. 9, 10, eade1463.
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4 Citations (Scopus)

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5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression
van der Lugt, N. M., Weerts, M. J. A., Veenma, D. C. M., Lincke, C. R., Gischler, S. J., Alders, M. & van Ierland, Y., Mar 2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 835-841 7 p.
Research output: Contribution to journal › Article › Academic › peer-review

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Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
Douben, H., Hoogeveen-Westerveld, M., Nellist, M., Louwen, J., Haan, M. K. D., Punt, M., Van Ommeren, B., Van Unen, L., Elfferich, P., Kasteleijn, E., Van Bever, Y., Van Vliet, M., Oostenbrink, R., Saris, J. J., Wagner, A., Van Ierland, Y., Van Ham, T. & Van Minkelen, R., 15 Feb 2023, In: Human Mutation. 2023, 9628049.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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2 Citations (Scopus)

47 Downloads (Pure)
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, J., Schot, R., Bongaerts, M., de Valk, W. G., van Veghel-Plandsoen, M. M., Monfils, K., Douben, H., Elfferich, P., Kasteleijn, E., van Unen, L. M. A., Geeven, G., Saris, J. J., van Ierland, Y., Verheijen, F. W., van der Sterre, M. L. T., Sadeghi Niaraki, F., Smits, D. J., Huidekoper, H. H., Williams, M. & Wilke, M. & 9 others, Verhoeven, V. J. M., Joosten, M., Kievit, A. J. A., van de Laar, I. M. B. H., Hoefsloot, L. H., Hoogeveen-Westerveld, M., Nellist, M., Mancini, G. M. S. & van Ham, T. J., 2 Feb 2023, In: American Journal of Human Genetics. 110, 2, p. 251-272 22 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
13 Citations (Scopus)
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Hendricks, L. A. J., Hoogerbrugge, N., PTEN Study Group, Mensenkamp, A. R., Brunet, J., Lleuger-Pujol, R., Høberg-Vetti, H., Haavind, M. T., Innella, G., Turchetti, D., Aretz, S., Spier, I., Tischkowitz, M., Jahn, A., Links, T. P., Olderode-Berends, M. J. W., Blatnik, A., Leter, E. M., Evans, D. G. & Woodward, E. R. & 16 others, Steinke-Lange, V., Anastasiadou, V. C., Colas, C., Villy, M. C., Benusiglio, P. R., Gerasimenko, A., Barili, V., Branchaud, M., Houdayer, C., Tesi, B., Yazicioglu, M. O., van der Post, R. S., Schuurs-Hoeijmakers, J. H. M., Vos, J. R., Duijkers, F. & van Ierland, Y., Jan 2023, In: Journal of the National Cancer Institute. 115, 1, p. 93-103 11 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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14 Citations (Scopus)

50 Downloads (Pure)

dr. Yvette van Ierland

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Collaborations and top research areas from the last five years

Dive into details

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

dr. Yvette van Ierland

Fingerprint

Collaborations and top research areas from the last five years

Research output

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome