Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Por Acuna-Hidalgo, Rocio, Bo, Tan, Kwint, Michael P., van de Vorst, Maartje, Pinelli, Michele, Veltman, Joris A., Hoischen, Alexander, Vissers, Lisenka E.L.M., Gilissen, Christian
Publicado no Am J Hum Genet (2015)

Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.)

Por van Kessel, Maartje AHJ, Dutilh, Bas E, Neveling, Kornelia, Kwint, Michael P, Veltman, Joris A, Flik, Gert, Jetten, Mike SM, Klaren, Peter HM, Op den Camp, Huub JM
Publicado em 2011

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Por Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan
Publicado no Eur J Hum Genet (2017)

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

Por Coman, David, Vissers, Lisenka E.L.M., Riley, Lisa G., Kwint, Michael P., Hauck, Roxanna, Koster, Janet, Geuer, Sinje, Hopkins, Sarah, Hallinan, Barbra, Sweetman, Larry, Engelke, Udo F.H., Burrow, T. Andrew, Cardinal, John, McGill, James, Inwood, Anita, Gurnsey, Christine, Waterham, Hans R., Christodoulou, John, Wevers, Ron A., Pitt, James
Publicado no Am J Hum Genet (2018)

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Por Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.
Publicado no Genet Med (2017)

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Por Estrada-Cuzcano, Alejandro, Neveling, Kornelia, Kohl, Susanne, Banin, Eyal, Rotenstreich, Ygal, Sharon, Dror, Falik-Zaccai, Tzipora C., Hipp, Stephanie, Roepman, Ronald, Wissinger, Bernd, Letteboer, Stef J.F., Mans, Dorus A., Blokland, Ellen A.W., Kwint, Michael P., Gijsen, Sabine J., van Huet, Ramon A.C., Collin, Rob W.J., Scheffer, H., Veltman, Joris A., Zrenner, Eberhart, den Hollander, Anneke I., Klevering, B. Jeroen, Cremers, Frans P.M.
Publicado em 2012

Next-generation genetic testing for retinitis pigmentosa

Por Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Publicado em 2012