Cutibacterium acnes: much ado about maybe nothing much

by van Steensel, Maurice A. M., Chong, Goh Boon
Published 2022

What does acne genetics teach us about disease pathogenesis?

by Common, J. E. A., Barker, J. N., van Steensel, Maurice A. M.
Published 2020

Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

by van de Beek, Irma, van Steensel, Maurice A. M., Houweling, Arjan C.
Published 2022

ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation

by de Almeida, Hiram L., van Steensel, Maurice A. M., Rocha, Aroni, Caspary, Patrícia, Meijer, Rowdy
Published 2021

Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

by Lim, Sophia Beng Hui, Wei, Shang, Tan, Andy Hee-Meng, van Steensel, Maurice A. M., Lim, Xinhong
Published 2023

The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

by de Vos, Ivo J. H. M., Wong, Arnette Shi Wei, Taslim, Jason, Ong, Sheena Li Ming, Syder, Nicole C., Goggi, Julian L., Carney, Thomas James, van Steensel, Maurice A. M.
Published 2021

Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome

by Loh, Abigail Y. T., Špoljar, Sanja, Neo, Granville Y. W., Escande-Beillard, Nathalie, Leushacke, Marc, Luijten, Monique N. H., Venkatesh, Byrappa, Bonnard, Carine, van Steensel, Maurice A. M., Hamm, Henning, Carmichael, Andrew, Rajan, Neil, Carney, Thomas J., Reversade, Bruno
Published 2022

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

by van de Beek, Irma, Glykofridis, Iris E., Wagner, Anja, den Toom, Dorine T., Bongers, Ernie M. H. F., van Leenders, Geert J. L. H., Johannesma, Paul C., Meijers-Heijboer, Hanne E. J., Wolthuis, Rob M. F., van Steensel, Maurice A. M., Dubbink, Hendrikus J., Houweling, Arjan C.
Published 2023

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

by de Vos, Ivo J. H. M., Goggi, Julian L., Wilson, Gabrielle R., Stegmann, Alexander P. A., Amor, David J., Dunn, Norris Ray, Carney, Thomas James, Lockhart, Paul J., Coull, Barry J., van Steensel, Maurice A. M., Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Scerri, Thomas, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, van Geel, Michel, Janssen, Renske, Bahlo, Melanie
Published 2019

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

by Liu, Yanshan, Banka, Siddharth, Huang, Yingzhi, Hardman-Smart, Jonathan, Pye, Derek, Torrelo, Antonio, Beaman, Glenda M., Kazanietz, Marcelo G., Baker, Martin J., Ferrazzano, Carlo, Shi, Chenfu, Orozco, Gisela, Eyre, Stephen, van Geel, Michel, Bygum, Anette, Fischer, Judith, Miedzybrodzka, Zosia, Abuzahra, Faris, Rübben, Albert, Cuvertino, Sara, Ellingford, Jamie M., Smith, Miriam J., Evans, D. Gareth, Weppner-Parren, Lizelotte J. M. T., van Steensel, Maurice A. M., Chaudhary, Iskander H., Mangham, D. Chas, Lear, John T., Paus, Ralf, Frank, Jorge, Newman, William G., Zhang, Xue
Published 2022