Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis

door Alders, Marielle, Bliek, Jet, vd Lip, Karin, vd Bogaard, Ruud, Mannens, Marcel
Gepubliceerd in 2009

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

door Haenen, Filip, Alders, Marielle, Dierckx, Elke, Schil, Paul Van, Demeulemeester, Veronique, Mortier, Geert, Desager, Kristine
Gepubliceerd in J Pediatr Genet (2013)

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

door Huijsdens-van Amsterdam, Karin, Barge-Schaapveld, Daniela QCM, Mathijssen, Inge B, Alders, Mariëlle, Pajkrt, Eva, Knegt, Alida C
Gepubliceerd in 2012

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Non-Synonymous Single Nucleotide Variants in Type 1 and 2 Long QT Syndrome

door Giudicessi, John R., Kapplinger, Jamie D., Tester, David J., Alders, Marielle, Salisbury, Benjamin A., Wilde, Arthur A.M., Ackerman, Michael J.
Gepubliceerd in 2012

Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

door Bouman, Arjan, Alders, Mariëlle, Oostra, Roelof Jan, van Leeuwen, Elisabeth, Thuijs, Nikki, van der Kevie‐Kersemaekers, Anne‐Marie, van Maarle, Merel
Gepubliceerd in Am J Med Genet A (2017)

Genetic Testing for Long QT Syndrome - Distinguishing Pathogenic Mutations from Benign Variants

door Kapa, Suraj, Tester, David J., Salisbury, Benjamin A., Harris-Kerr, Carole, Pungliya, Manish S., Alders, Marielle, Wilde, Arthur A. M., Ackerman, Michael J.
Gepubliceerd in 2009

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

door Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Gepubliceerd in Front Pediatr (2017)

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation

door Adadi, Najlae, Radi, Fatima Zohra, Lahrouchi, Najim, Hara, Loubna, Ratbi, Ilham, Elalaoui, Siham Chafai, Alders, Marielle, Zarzur, Jamila, Bezzina, Connie, Sefiani, Abdelaziz
Gepubliceerd in Anatol J Cardiol (2018)

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation

door Tester, David J., Valdivia, Carmen, Harris-Kerr, Carole, Alders, Marielle, Salisbury, Benjamin A., Wilde, Arthur A. M., Makielski, Jonathan C., Ackerman, Michael J.
Gepubliceerd in 2010

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

door Kapplinger, Jamie D., Tseng, Andrew S., Salisbury, Benjamin A., Tester, David J., Callis, Thomas E., Alders, Marielle, Wilde, Arthur A.M., Ackerman, Michael J.
Gepubliceerd in J Cardiovasc Transl Res (2015)

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

door van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M.
Gepubliceerd in JIMD Rep (2018)

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder

door Daniels, Eileen G., Alders, Marielle, Lezzerini, Marco, McDonald, Andrew, Peters, Marjolein, Kuijpers, Taco W., Lakeman, Phillis, Houtkooper, Riekelt H., MacInnes, Alyson W.
Gepubliceerd in Cold Spring Harb Mol Case Stud (2019)

Guidelines for diagnostic next-generation sequencing

door Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Gepubliceerd in Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

door Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Gepubliceerd in Eur J Hum Genet (2016)

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

door Bliek, Jet, Alders, Marielle, Maas, Saskia M, Oostra, Roelof-Jan, Mackay, Deborah M, van der Lip, Karin, Callaway, Johnatan L, Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J, Mannens, Marcel MAM
Gepubliceerd in 2009

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

door 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.
Gepubliceerd in 2009

Mutations in IRS4 are associated with central hypothyroidism

door Heinen, Charlotte A, de Vries, Emmely M, Alders, Mariëlle, Bikker, Hennie, Zwaveling-Soonawala, Nitash, van den Akker, Erica L T, Bakker, Boudewijn, Hoorweg-Nijman, Gera, Roelfsema, Ferdinand, Hennekam, Raoul C, Boelen, Anita, van Trotsenburg, A S Paul, Fliers, Eric
Gepubliceerd in J Med Genet (2018)

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

door van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
Gepubliceerd in Eur J Hum Genet (2018)

Characterization of SEMA3A-Encoded Semaphorin as a Naturally Occurring K(v)4.3 Protein Inhibitor and its Contribution to Brugada Syndrome

door Boczek, Nicole J., Ye, Dan, Johnson, Eric K., Wang, Wei, Crotti, Lia, Tester, David J., Dagradi, Federica, Mizusawa, Yuka, Torchio, Margherita, Alders, Marielle, Giudicessi, John R., Wilde, Arthur A., Schwartz, Peter J., Nerbonne, Jeanne M., Ackerman, Michael J.
Gepubliceerd in Circ Res (2014)

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

door 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.
Gepubliceerd in Hum Mol Genet (2017)