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

per Alders, Marielle, Bliek, Jet, vd Lip, Karin, vd Bogaard, Ruud, Mannens, Marcel
Publicat 2009

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

per Haenen, Filip, Alders, Marielle, Dierckx, Elke, Schil, Paul Van, Demeulemeester, Veronique, Mortier, Geert, Desager, Kristine
Publicat a J Pediatr Genet (2013)

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Guidelines for diagnostic next-generation sequencing

per 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
Publicat a Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

per 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
Publicat a Eur J Hum Genet (2016)

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

per 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
Publicat 2009

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

per 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.
Publicat 2009

Mutations in IRS4 are associated with central hypothyroidism

per 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
Publicat a J Med Genet (2018)

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

per 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
Publicat a 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

per 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.
Publicat a Circ Res (2014)

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

per 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.
Publicat a Hum Mol Genet (2017)