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GPSM 2 and Chudley- Mc Cullough Syndrome: A Dutch Founder Variant Brought to North America.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 973, doi. 10.1002/ajmg.a.35808
By:
- Almomani, Rowida;
- Sun, Yu;
- Aten, Emmelien;
- Hilhorst‐Hofstee, Yvonne;
- Peeters‐Scholte, Cacha M.P.C.D.;
- van Haeringen, Arie;
- Hendriks, Yvonne M.C.;
- den Dunnen, Johan T.;
- Breuning, Martijn H.;
- Kriek, Marjolein;
- Santen, Gijs W.E.
Publication type:
Article
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 4, p. 379, doi. 10.1038/ng.2217
By:
- Santen, Gijs W E;
- Aten, Emmelien;
- Sun, Yu;
- Almomani, Rowida;
- Gilissen, Christian;
- Nielsen, Maartje;
- Kant, Sarina G;
- Snoeck, Irina N;
- Peeters, Els A J;
- Hilhorst-Hofstee, Yvonne;
- Wessels, Marja W;
- den Hollander, Nicolette S;
- Ruivenkamp, Claudia A L;
- van Ommen, Gert-Jan B;
- Breuning, Martijn H;
- den Dunnen, Johan T;
- van Haeringen, Arie;
- Kriek, Marjolein
Publication type:
Article
The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. E356, doi. 10.1210/jc.2010-1505
By:
- Kant, Sarina G.;
- van der Kamp, Hetty J.;
- Kriek, Marjolein;
- Bakker, Egbert;
- Bakker, Boudewijn;
- Hoffer, Mariette J. V.;
- van Bunderen, Patrick;
- Losekoot, Monique;
- Maas, Saskia M.;
- Wit, Jan M.;
- Rappold, Gudrun;
- Breuning, Martijn H.
Publication type:
Article
Refinement of the genetic cause of ATR-16.
Published in:
Human Genetics, 2007, v. 122, n. 3/4, p. 283, doi. 10.1007/s00439-007-0399-y
By:
- Harteveld, Cornelis L.;
- Kriek, Marjolein;
- Bijlsma, Emilia K.;
- Erjavec, Zoran;
- Balak, Deepak;
- Phylipsen, Marion;
- Voskamp, Astrid;
- di Capua, Emmanora;
- White, Stefan J.;
- Giordano, Piero C.
Publication type:
Article
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
Published in:
Human Genetics, 2006, v. 120, n. 1, p. 77, doi. 10.1007/s00439-006-0185-2
By:
- Kriek, Marjolein;
- Szuhai, Karoly;
- Kant, Sarina G.;
- White, Stefan J.;
- Dauwerse, Hans;
- Fiegler, Heike;
- Carter, Nigel P.;
- Knijnenburg, Jeroen;
- den Dunnen, Johan T.;
- Tanke, Hans J.;
- Breuning, Martijn H.;
- Rosenberg, Carla
Publication type:
Article
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1404, doi. 10.1038/ejhg.2008.135
By:
- van Gijn, Marielle E.;
- Soler, Stéphan;
- de la Chapelle, Claire;
- Mulder, Marcel;
- Ritorre, Cécile;
- Kriek, Marjolein;
- Philibert, Laurent;
- van der Wielen, Michiel;
- Frenkel, Joost;
- Grandemange, Sylvie;
- Bakker, Egbert;
- van Amstel, Johannes K. Ploos;
- Touitou, Isabelle
Publication type:
Article
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 2, p. 180, doi. 10.1038/sj.ejhg.5201540
By:
- Kriek, Marjolein;
- White, Stefan J.;
- Szuhai, Karoly;
- Knijnenburg, Jeroen;
- van Ommen, Gert-Jan B.;
- den Dunnen, Johan T.;
- Breuning, Martijn H.
Publication type:
Article
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
By:
- Rots, Dmitrijs;
- Rooney, Kathleen;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Pfundt, Rolph;
- Marcelis, Carlo;
- Willemsen, Marjolein H.;
- van Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Alders, Marielle;
- Õunap, Katrin;
- Reimand, Tiia;
- Fjodorova, Olga;
- Berland, Siren;
- Liahjell, Eva Benedicte;
- Bojovic, Ognjen;
- Kriek, Marjolein;
- Ruivenkamp, Claudia;
- Bonati, Maria Teresa
Publication type:
Article
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 149, doi. 10.1111/cge.14031
By:
- Vincenten, Sanne C. C.;
- Van Der Stoep, Nienke;
- Paulussen, Aimée D. C.;
- Mul, Karlien;
- Badrising, Umesh A.;
- Kriek, Marjolein;
- Van Der Heijden, Olivier W. H.;
- Van Engelen, Baziel G. M.;
- Voermans, Nicol C.;
- De Die‐Smulders, Christine E. M.;
- Lassche, Saskia
Publication type:
Article
Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics.
Published in:
Clinical Pharmacology & Therapeutics, 2020, v. 107, n. 3, p. 617, doi. 10.1002/cpt.1665
By:
- Lee, Maaike;
- Allard, William G.;
- Bollen, Sander;
- Santen, Gijs W. E.;
- Ruivenkamp, Claudia A. L.;
- Hoffer, Mariëtte J. V.;
- Kriek, Marjolein;
- Guchelaar, Henk‐Jan;
- Anvar, Seyed Y.;
- Swen, Jesse J.
Publication type:
Article
Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
Published in:
Human Mutation, 2015, v. 36, n. 6, p. 648, doi. 10.1002/humu.22783
By:
- Sun, Yu;
- Ruivenkamp, Claudia A.L.;
- Hoffer, Mariëtte J.V.;
- Vrijenhoek, Terry;
- Kriek, Marjolein;
- Asperen, Christi J.;
- Dunnen, Johan T.;
- Santen, Gijs W.E.
Publication type:
Article
Coffin- Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1519, doi. 10.1002/humu.22394
By:
- Santen, Gijs W.E.;
- Aten, Emmelien;
- Vulto-van Silfhout, Anneke T.;
- Pottinger, Caroline;
- Bon, Bregje W.M.;
- Minderhout, Ivonne J.H.M.;
- Snowdowne, Ronelle;
- Lans, Christian A.C.;
- Boogaard, Merel;
- Linssen, Margot M.L.;
- Vijfhuizen, Linda;
- Wielen, Michiel J.R.;
- Vollebregt, M.J. (Ellen);
- Breuning, Martijn H.;
- Kriek, Marjolein;
- Haeringen, Arie;
- den Dunnen, Johan T.;
- Hoischen, Alexander;
- Clayton-Smith, Jill;
- Vries, Bert B.A.
Publication type:
Article
Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).
Published in:
Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292
By:
- Sun, Yu;
- Almomani, Rowida;
- Breedveld, Guido J.;
- Santen, Gijs W.E.;
- Aten, Emmelien;
- Lefeber, Dirk J.;
- Hoff, Jorrit I.;
- Brusse, Esther;
- Verheijen, Frans W.;
- Verdijk, Rob M.;
- Kriek, Marjolein;
- Oostra, Ben;
- Breuning, Martijn H.;
- Losekoot, Monique;
- Dunnen, Johan T.;
- Warrenburg, Bart P.;
- Maat‐Kievit, Anneke J.A.
Publication type:
Article
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses.
Published in:
Human Mutation, 2004, v. 24, n. 1, p. 86, doi. 10.1002/humu.20054
By:
- White, Stefan J.;
- Vink, Geraldine R.;
- Kriek, Marjolein;
- Wuyts, Wim;
- Schouten, Jan;
- Bakker, Bert;
- Breuning, Martijn H.;
- Dunnen, Johan T. den
Publication type:
Article
Technologies for Pharmacogenomics: A Review.
Published in:
Genes, 2020, v. 11, n. 12, p. 1456, doi. 10.3390/genes11121456
By:
- van der Lee, Maaike;
- Kriek, Marjolein;
- Guchelaar, Henk-Jan;
- Swen, Jesse J.
Publication type:
Article

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