Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

por Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.
Publicado 2020

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 2008

Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere

por van der Laan, Liselot, Hoekman, Daniel R., Wortelboer, Esther J., Mannens, Marcel M. A. M., Kooper, Angelique J. A.
Publicado 2023

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 2018

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

Meta-Analysis of in vitro-Differentiated Macrophages Identifies Transcriptomic Signatures That Classify Disease Macrophages in vivo

por Chen, Hung-Jen, Li Yim, Andrew Y. F., Griffith, Guillermo R., de Jonge, Wouter J., Mannens, Marcel M. A. M., Ferrero, Enrico, Henneman, Peter, de Winther, Menno P. J.
Publicado 2019

Clinical and community genetics services in the Dutch Caribbean

por Verberne, Eline A., Ecury-Goossen, Ginette M., Manshande, Meindert E., Ponson-Wever, Maria, de Vroomen, Maartje, Tilanus, Martijn, Mannens, Marcel M. A. M., Henneman, Lidewij, van Haelst, Mieke M.
Publicado 2021

Comparing genome-scale DNA methylation and CNV marks between adult human cultured ITGA6+ testicular cells and seminomas to assess in vitro genomic stability

por Struijk, Robert B., Dorssers, Lambert C. J., Henneman, Peter, Rijlaarsdam, Martin A., Venema, Andrea, Jongejan, Aldo, Mannens, Marcel M. A. M., Looijenga, Leendert H. J., Repping, Sjoerd, van Pelt, Ans M. M.
Publicado 2020

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

por Vos, Niels, Oussaada, Sabrina M., Cooiman, Mellody I., Kleinendorst, Lotte, ter Horst, Kasper W., Hazebroek, Eric J., Romijn, Johannes A., Serlie, Mireille J., Mannens, Marcel M. A. M., van Haelst, Mieke M.
Publicado 2020

Epigenome-wide association study for perceived discrimination among sub-Saharan African migrants in Europe - the RODAM study

por van der Laan, Loes C., Meeks, Karlijn A. C., Chilunga, Felix P., Agyemang, Charles, Venema, Andrea, Mannens, Marcel M. A. M., Zafarmand, Mohammad H., Klipstein-Grobusch, Kerstin, Smeeth, Liam, Adeyemo, Adebowale, Henneman, Peter
Publicado 2020

Whole-Genome DNA Methylation Profiling of CD14+ Monocytes Reveals Disease Status and Activity Differences in Crohn’s Disease Patients

por Li Yim, Andrew Y.F., Duijvis, Nicolette W., Ghiboub, Mohammed, Sharp, Catriona, Ferrero, Enrico, Mannens, Marcel M.A.M., D’Haens, Geert R., de Jonge, Wouter J., te Velde, Anje A., Henneman, Peter
Publicado 2020

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

por Krzyzewska, Izabela M., Lauffer, Peter, Mul, Adri N., van der Laan, Liselot, Yim, Andrew Y. F. Li, Cobben, Jan Maarten, Niklinski, Jacek, Chomczyk, Monika A., Smigiel, Robert, Mannens, Marcel M. A. M., Henneman, Peter
Publicado 2023

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 2013

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 2016

Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases

por Chilunga, Felix P., Henneman, Peter, Venema, Andrea, Meeks, Karlijn A. C., Requena-Méndez, Ana, Beune, Erik, Mockenhaupt, Frank P., Smeeth, Liam, Bahendeka, Silver, Danquah, Ina, Klipstein-Grobusch, Kerstin, Adeyemo, Adebowale, Mannens, Marcel M.A.M, Agyemang, Charles
Publicado 2021

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 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 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 2018

Novel Insights Into Rheumatoid Arthritis Through Characterization of Concordant Changes in DNA Methylation and Gene Expression in Synovial Biopsies of Patients With Differing Numbe...

por Li Yim, Andrew Y. F., Ferrero, Enrico, Maratou, Klio, Lewis, Huw D., Royal, George, Tough, David F., Larminie, Chris, Mannens, Marcel M. A. M., Henneman, Peter, de Jonge, Wouter J., van de Sande, Marleen G. H., Gerlag, Danielle M., Prinjha, Rab K., Tak, Paul P.
Publicado 2021

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 2017