Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

por Massink, Maarten P. G., Kooi, Irsan E., Martens, John W. M., Waisfisz, Quinten, Meijers-Heijboer, Hanne
Publicado 2015

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

por Holtkamp, Kim C. A., Henneman, Lidewij, Gille, Johan J. P., Meijers-Heijboer, Hanne, Cornel, Martina C., Lakeman, Phillis
Publicado 2018

Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

por Stuurman, Kyra E., van der Mespel-Brouwer, Marjolein H., Engels, Melanie A. J., Elting, Mariet W., Bhola, Shama L., Meijers-Heijboer, Hanne
Publicado 2021

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype

por Ruijs, Marielle WG, Broeks, Annegien, Menko, Fred H, Ausems, Margreet GEM, Wagner, Anja, Oldenburg, Rogier, Meijers-Heijboer, Hanne, van't Veer, Laura J, Verhoef, Senno
Publicado 2009

With expanded carrier screening, founder populations run the risk of being overlooked

por Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Publicado 2017

RB1 mutations and second primary malignancies after hereditary retinoblastoma

por Dommering, Charlotte J., Marees, Tamara, van der Hout, Annemarie H., Imhof, Saskia M., Meijers-Heijboer, Hanne, Ringens, Peter J., van Leeuwen, Flora E., Moll, Annette C.
Publicado 2011

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

por de Vries, Yne, Lwiwski, Nikki, Levitus, Marieke, Kuyt, Bertus, Israels, Sara J., Arwert, Fré, Zwaan, Michel, Greenberg, Cheryl R., Alter, Blanche P., Joenje, Hans, Meijers-Heijboer, Hanne
Publicado 2012

Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates

por Henneman, Peter, Bouman, Arjan, Mul, Adri, Knegt, Lia, van der Kevie-Kersemaekers, Anne-Marie, Zwaveling-Soonawala, Nitash, Meijers-Heijboer, Hanne E. J., van Trotsenburg, A. S. Paul, Mannens, Marcel M.
Publicado 2018

Coregulation of FANCA and BRCA1 in human cells

por Haitjema, Anneke, Mol, Berber M, Kooi, Irsan E, Massink, Maarten PG, Jørgensen, Jens AL, Rockx, Davy AP, Rooimans, Martin A, de Winter, Johan P, Meijers-Heijboer, Hanne, Joenje, Hans, Dorsman, Josephine C
Publicado 2014

A novel CCM2 variant in a family with non‐progressive cognitive complaints and cerebral microbleeds

por Cohn‐Hokke, Petra E., Holstege, Henne, Weiss, Marjan M., van der Flier, Wiesje M., Barkhof, Frederik, Sistermans, Erik A., Pijnenburg, Yolande A. L., van Swieten, John C., Meijers‐Heijboer, Hanne, Scheltens, Philip
Publicado 2016

The 100-plus Study of cognitively healthy centenarians: rationale, design and cohort description

por Holstege, Henne, Beker, Nina, Dijkstra, Tjitske, Pieterse, Karlijn, Wemmenhove, Elizabeth, Schouten, Kimja, Thiessens, Linette, Horsten, Debbie, Rechtuijt, Sterre, Sikkes, Sietske, van Poppel, Frans W. A., Meijers-Heijboer, Hanne, Hulsman, Marc, Scheltens, Philip
Publicado 2018

No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome

por van de Beek, Irma, Glykofridis, Iris E., Wolthuis, Rob M. F., Gille, Hans J. J. P., Johannesma, Paul C., Meijers-Heijboer, Hanne E. J., Moorselaar, R. Jeroen A. van, Houweling, Arjan C.
Publicado 2019

Centenarian controls increase variant effect sizes by an average twofold in an extreme case–extreme control analysis of Alzheimer’s disease

por Tesi, Niccolò, van der Lee, Sven J., Hulsman, Marc, Jansen, Iris E., Stringa, Najada, van Schoor, Natasja, Meijers-Heijboer, Hanne, Huisman, Martijn, Scheltens, Philip, Reinders, Marcel J. T., van der Flier, Wiesje M., Holstege, Henne
Publicado 2018

Prophylactic Mastectomy in BRCA1/2 Mutation Carriers and Women at Risk of Hereditary Breast Cancer: Long-Term Experiences at the Rotterdam Family Cancer Clinic

por Heemskerk-Gerritsen, Bernadette A. M., Brekelmans, Cecile T. M., Menke-Pluymers, Marian B. E., van Geel, Albert N., Tilanus-Linthorst, Madeleine M. A., Bartels, Carina C. M., Tan, Murly, Meijers-Heijboer, Hanne E. J., Klijn, Jan G. M., Seynaeve, Caroline
Publicado 2007

A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression

por Kooi, Irsan E., Mol, Berber M., Massink, Maarten P. G., de Jong, Marcus C., de Graaf, Pim, van der Valk, Paul, Meijers-Heijboer, Hanne, Kaspers, Gertjan J. L., Moll, Annette C., te Riele, Hein, Cloos, Jacqueline, Dorsman, Josephine C.
Publicado 2016

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

por Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J
Publicado 2015

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

por Holstege, Henne, Pfeiffer, Wayne, Sie, Daoud, Hulsman, Marc, Nicholas, Thomas J., Lee, Clarence C., Ross, Tristen, Lin, Jue, Miller, Mark A., Ylstra, Bauke, Meijers-Heijboer, Hanne, Brugman, Martijn H., Staal, Frank J.T., Holstege, Gert, Reinders, Marcel J.T., Harkins, Timothy T., Levy, Samuel, Sistermans, Erik A.
Publicado 2014

Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression

por Kooi, Irsan E., Mol, Berber M., Moll, Annette C., van der Valk, Paul, de Jong, Marcus C., de Graaf, Pim, van Mil, Saskia E., Schouten-van Meeteren, Antoinette Y.N., Meijers-Heijboer, Hanne, Kaspers, Gertjan L., te Riele, Hein, Cloos, Jacqueline, Dorsman, Josephine C.
Publicado 2015

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

por Kooi, Irsan E., Mol, Berber M., Massink, Maarten P. G., Ameziane, Najim, Meijers-Heijboer, Hanne, Dommering, Charlotte J., van Mil, Saskia E., de Vries, Yne, van der Hout, Annemarie H., Kaspers, Gertjan J. L., Moll, Annette C., te Riele, Hein, Cloos, Jacqueline, Dorsman, Josephine C.
Publicado 2016

Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels

por Houwink, Elisa J. F., Muijtjens, Arno M. M., van Teeffelen, Sarah R., Henneman, Lidewij, Rethans, Jan Joost, Jacobi, Florijn, van der Jagt, Liesbeth, Stirbu, Irina, van Luijk, Scheltus J., Stumpel, Connie T. R. M., Meijers-Heijboer, Hanne E., van der Vleuten, Cees, Cornel, Martina C., Dinant, Geert Jan
Publicado 2015