Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

por Mol, Merel O., van Rooij, Jeroen G.J., Brusse, Esther, Verkerk, Annemieke J.M.H., Melhem, Shamiram, den Dunnen, Wilfred F.A., Rizzu, Patrizia, Cupidi, Chiara, van Swieten, John C., Donker Kaat, Laura
Publicado 2020

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

por Mol, Merel O., Wong, Tsz H., Melhem, Shamiram, Basu, Sreya, Viscusi, Riccardo, Galjart, Niels, Rozemuller, Annemieke J.M., Fallini, Claudia, Landers, John E., Kaat, Laura Donker, Seelaar, Harro, van Rooij, Jeroen G.J., van Swieten, John C.
Publicado 2021

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures

por Zhou, Wei, Nguyen, Hanh H., van de Laarschot, Denise M., Howe, Tet Sen, Koh, Joyce S.B., Milat, Frances, van Rooij, Jeroen G.J., Verlouw, Joost A.M., van der Eerden, Bram C.J., Stevenson, Mark, Thakker, Rajesh V., Zillikens, M. Carola, Ebeling, Peter R.
Publicado 2022

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

por Holstege, Henne, van der Lee, Sven J, Hulsman, Marc, Wong, Tsz Hang, van Rooij, Jeroen GJ, Weiss, Marjan, Louwersheimer, Eva, Wolters, Frank J, Amin, Najaf, Uitterlinden, André G, Hofman, Albert, Ikram, M Arfan, van Swieten, John C, Meijers-Heijboer, Hanne, van der Flier, Wiesje M, Reinders, Marcel JT, van Duijn, Cornelia M, Scheltens, Philip
Publicado 2017

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane

por Corominas, Jordi, Colijn, Johanna M., Geerlings, Maartje J., Pauper, Marc, Bakker, Bjorn, Amin, Najaf, Lores Motta, Laura, Kersten, Eveline, Garanto, Alejandro, Verlouw, Joost A.M., van Rooij, Jeroen G.J., Kraaij, Robert, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Schick, Tina, Fauser, Sascha, de Jong, Eiko K., van Duijn, Cornelia M., Hoyng, Carel B., Klaver, Caroline C.W., den Hollander, Anneke I.
Publicado 2018