The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

por Engwerda, Aafke, Kerstjens-Frederikse, Wilhelmina S., Corsten-Janssen, Nicole, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Publicado 2023

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

por Rraku, Eleana, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A., Engwerda, Aafke
Publicado 2023

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

por El Mecky, Julia, Johansson, Lennart, Plantinga, Mirjam, Fenwick, Angela, Lucassen, Anneke, Dijkhuizen, Trijnie, van der Hout, Annemieke, Lyle, Kate, van Langen, Irene
Publicado 2019

Copy number variation in a hospital‐based cohort of children with epilepsy

por Vlaskamp, Danique R. M., Callenbach, Petra M. C., Rump, Patrick, Giannini, Lucia A. A., Dijkhuizen, Trijnie, Brouwer, Oebele F., van Ravenswaaij‐Arts, Conny M. A.
Publicado 2017

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

por Engwerda, Aafke, Frentz, Barbara, den Ouden, A. Lya, Flapper, Boudien C. T., Swertz, Morris A., Gerkes, Erica H., Plantinga, Mirjam, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Publicado 2018

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

por Stevens-Kroef, Marian JPL, van den Berg, Eva, Olde Weghuis, Daniel, Geurts van Kessel, Ad, Pfundt, Rolph, Linssen-Wiersma, Matty, Benjamins, Marloes, Dijkhuizen, Trijnie, Groenen, Patricia JTA, Simons, Annet
Publicado 2014

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

por van Daalen, Emma, Kemner, Chantal, Verbeek, Nienke E., van der Zwaag, Bert, Dijkhuizen, Trijnie, Rump, Patrick, Houben, Renske, van ‘t Slot, Ruben, de Jonge, Maretha V., Staal, Wouter G., Beemer, Frits A., Vorstman, Jacob A. S., Burbach, J. Peter H., van Amstel, Hans Kristian Ploos, Hochstenbach, Ron, Brilstra, Eva H., Poot, Martin
Publicado 2011

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

por in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W.W.M. Pim
Publicado 2020

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

por Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
Publicado 2019