Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

Por Redeker, Egbert J.W., de Visser, Annette S.H., Bergen, Arthur A.B., Mannens, Marcel M.A.M.
Publicado em 2008

Higher Polygenetic Predisposition for Asthma in Cow’s Milk Allergic Children

Por Jansen, Philip R., Petrus, Nicole C. M., Venema, Andrea, Posthuma, Danielle, Mannens, Marcel M. A. M., Sprikkelman, Aline B., Henneman, Peter
Publicado no Nutrients (2018)

Recurrent Intrauterine Fetal Loss due to Near Absence of HERG: Clinical and Functional Characterization of a Homozygous Non-sense HERG mutation

Por Bhuiyan, Zahurul A., Momenah, Tarek S., Gong, Qiuming, Amin, A. S., Al Ghamdi, Saleh, Carvalho, Julene S., Homfray, Tessa, Mannens, Marcel M.A.M., Zhou, Zhengfeng, Wilde, Arthur A. M.
Publicado em 2008

Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorph...

Por Medeiros-Domingo, Argelia, Bhuiyan, Zahurul A., Tester, David J., Hofman, Nynke, Bikker, Hennie, van Tintelen, J Peter, Mannens, Marcel M.A.M, Wilde, Arthur A.M., Ackerman, Michael J.
Publicado em 2009

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 no PLoS One (2018)

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

Por Alders, Marielle, Koopmann, Tamara T., Christiaans, Imke, Postema, Pieter G., Beekman, Leander, Tanck, Michael W.T., Zeppenfeld, Katja, Loh, Peter, Koch, Karel T., Demolombe, Sophie, Mannens, Marcel M.A.M., Bezzina, Connie R., Wilde, Arthur A.M.
Publicado em 2009

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Por Mook, Olaf R F, Haagmans, Martin A, Soucy, Jean-François, van de Meerakker, Judith B A, Baas, Frank, Jakobs, Marja E, Hofman, Nynke, Christiaans, Imke, Lekanne Deprez, Ronald H, Mannens, Marcel M A M
Publicado em 2013

Post-Pacing Abnormal Repolarization in Catecholaminergic Polymorphic Ventricular Tachycardia Associated with a Mutation in the Cardiac Ryanodine Receptor Gene (RyR2)

Por Nof, Eyal, Belhassen, Bernard, Arad, Michael, Bhuiyan, Zahurul A., Antzelevitch, Charles, Rosso, Raphael, Fogelman, Rami, Luria, David, Eli-Ani, Dalia, Mannens, Marcel M.A.M., Viskin, Sami, Eldar, Michael, Wilde, Arthur A.M., Glikson, Michael
Publicado em 2011

Peripheral blood methylation profiling of female Crohn’s disease patients

Por Li Yim, Andrew Y. F., Duijvis, Nicolette W., Zhao, Jing, de Jonge, Wouter J., D’Haens, Geert R. A. M., Mannens, Marcel M. A. M., Mul, Adri N. P. M., te Velde, Anje A., Henneman, Peter
Publicado no Clin Epigenetics (2016)

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Por Chatzispyrou, Iliana A., Alders, Marielle, Guerrero-Castillo, Sergio, Zapata Perez, Ruben, Haagmans, Martin A., Mouchiroud, Laurent, Koster, Janet, Ofman, Rob, Baas, Frank, Waterham, Hans R., Spelbrink, Johannes N., Auwerx, Johan, Mannens, Marcel M., Houtkooper, Riekelt H., Plomp, Astrid S.
Publicado no Hum Mol Genet (2017)

Genetic variant in CACNA1C is associated with PTSD in traumatized police officers

Por Krzyzewska, Izabela M., Ensink, Judith B. M., Nawijn, Laura, Mul, Adri N., Koch, Saskia B., Venema, Andrea, Shankar, Vinod, Frijling, Jessie L., Veltman, Dirk J., Lindauer, Ramon J. L., Olff, Miranda, Mannens, Marcel M. A. M., van Zuiden, Mirjam, Henneman, Peter
Publicado no Eur J Hum Genet (2018)

A distinct epigenetic profile distinguishes stenotic from non-inflamed fibroblasts in the ileal mucosa of Crohn’s disease patients

Por Li Yim, Andrew Y. F., de Bruyn, Jessica R., Duijvis, Nicolette W., Sharp, Catriona, Ferrero, Enrico, de Jonge, Wouter J., Wildenberg, Manon E., Mannens, Marcel M. A. M., Buskens, Christianne J., D’Haens, Geert R., Henneman, Peter, te Velde, Anje A.
Publicado no PLoS One (2018)

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

Por van de Meerakker, Judith B A, van Engelen, Klaartje, Mathijssen, Inge B, Lekanne dit Deprez, Ronald H, Lam, Jan, Wilde, Arthur A M, Baars, Marieke J H, Mannens, Marcel M A M, Mulder, Barbara J M, Moorman, Antoon F M, Postma, Alex V
Publicado em 2011

An epigenome-wide association study in whole blood of measures of adiposity among Ghanaians: the RODAM study

Por Meeks, Karlijn A.C., Henneman, Peter, Venema, Andrea, Burr, Tom, Galbete, Cecilia, Danquah, Ina, Schulze, Matthias B., Mockenhaupt, Frank P., Owusu-Dabo, Ellis, Rotimi, Charles N., Addo, Juliet, Smeeth, Liam, Bahendeka, Silver, Spranger, Joachim, Mannens, Marcel M.A.M., Zafarmand, Mohammad H., Agyemang, Charles, Adeyemo, Adebowale
Publicado no Clin Epigenetics (2017)

Epigenome-wide association study in whole blood on type 2 diabetes among sub-Saharan African individuals: findings from the RODAM study

Por Meeks, Karlijn A C, Henneman, Peter, Venema, Andrea, Addo, Juliet, Bahendeka, Silver, Burr, Tom, Danquah, Ina, Galbete, Cecilia, Mannens, Marcel M A M, Mockenhaupt, Frank P, Owusu-Dabo, Ellis, Rotimi, Charles N, Schulze, Matthias B, Smeeth, Liam, Spranger, Joachim, Zafarmand, Mohammad H, Adeyemo, Adebowale, Agyemang, Charles
Publicado no Int J Epidemiol (2019)

An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

Por Ferrer, Christina M., Alders, Marielle, Postma, Alex V., Park, Seonmi, Klein, Mark A., Cetinbas, Murat, Pajkrt, Eva, Glas, Astrid, van Koningsbruggen, Silvana, Christoffels, Vincent M., Mannens, Marcel M.A.M., Knegt, Lia, Etchegaray, Jean-Pierre, Sadreyev, Ruslan I., Denu, John M., Mostoslavsky, Gustavo, van Maarle, Merel C., Mostoslavsky, Raul
Publicado no Genes Dev (2018)

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

Por van Kuilenburg, André B. P., Meijer, Judith, Mul, Adri N. P. M., Meinsma, Rutger, Schmid, Veronika, Dobritzsch, Doreen, Hennekam, Raoul C. M., Mannens, Marcel M. A. M., Kiechle, Marion, Etienne-Grimaldi, Marie-Christine, Klümpen, Heinz-Josef, Maring, Jan Gerard, Derleyn, Veerle A., Maartense, Ed, Milano, Gérard, Vijzelaar, Raymon, Gross, Eva
Publicado em 2010

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Por Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paola, Cubellis, Maria Vittoria, Larizza, Lidia, Temple, I Karen, Mannens, Marcel M A M, Mackay, Deborah J G, Riccio, Andrea
Publicado em 2009

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Por Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
Publicado no BMC Med Genomics (2016)

Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM study

Por Agyemang, Charles, Beune, Erik, Meeks, Karlijn, Owusu-Dabo, Ellis, Agyei-Baffour, Peter, Aikins, Ama de-Graft, Dodoo, Francis, Smeeth, Liam, Addo, Juliet, Mockenhaupt, Frank P, Amoah, Stephen K, Schulze, Matthias B, Danquah, Ina, Spranger, Joachim, Nicolaou, Mary, Klipstein-Grobusch, Kerstin, Burr, Tom, Henneman, Peter, Mannens, Marcel M, van Straalen, Jan P, Bahendeka, Silver, Zwinderman, A H, Kunst, Anton E, Stronks, Karien
Publicado em 2014