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Guidelines for diagnostic next-generation sequencing
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.2-5
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Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Author / Creator:Hoogenboom, Amarens ; Falix, Farah A ; van der Laan, Liselot ; Kerkhof, Jennifer ; Alders, Mariëlle ; Sadikovic, Bekim ; van Haelst, Mieke M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2024-04, Vol.32 (4), p.435-439
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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center
Author / Creator:Kleinendorst, Lotte ; Abawi, Ozair ; van der Voorn, Bibian ; Jongejan, Mieke H T M ; Brandsma, Annelies E ; Visser, Jenny A ; van Rossum, Elisabeth F C ; van der Zwaag, Bert ; Alders, Mariëlle ; Boon, Elles M J ; van Haelst, Mieke M ; van den Akker, Erica L T
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-05, Vol.15 (5), p.e0232990
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"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome
Author / Creator:Rumping, Lynne ; Hennekam, Raoul C M ; Alders, Mariëlle ; van Haelst, Mieke M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-01, Vol.31 (1), p.16-17
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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
Author / Creator:Müller, Annelieke R ; Boot, Erik ; Notermans, Stijn B ; Schuengel, Carlo ; Henneman, Lidewij ; Cornel, Martina C ; van Haelst, Mieke M ; Alders, Mariëlle ; van Karnebeek, Clara D M ; Bijl, Bas ; Wijburg, Frits A ; van Eeghen, Agnies M
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.346-11, Article 346
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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
Author / Creator:Alders, Mariëlle ; Al-Gazali, Lihadh ; Cordeiro, Isabelle ; Dallapiccola, Bruno ; Garavelli, Livia ; Tuysuz, Beyhan ; Salehi, Faranak ; Haagmans, Martin A. ; Mook, Olaf R. ; Majoie, Charles B. ; Mannens, Marcel M. ; Hennekam, Raoul C.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-09, Vol.133 (9), p.1161-1167
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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Author / Creator:Fischer, Jan ; Alders, Mariëlle ; Mannens, Marcel M A M ; Genevieve, David ; Hackmann, Karl ; Schröck, Evelin ; Sadikovic, Bekim ; Porrmann, Joseph
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2025-01, Vol.17 (1), p.5-6, Article 5
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Guidelines for diagnostic next-generation sequencing
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1515-1515
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Mutations in IRS4 are associated with central hypothyroidism
Author / Creator: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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-10, Vol.55 (10), p.693-700
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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
Author / Creator:van der Laan, Liselot ; Rooney, Kathleen ; Haghshenas, Sadegheh ; Silva, Ananília ; McConkey, Haley ; Relator, Raissa ; Levy, Michael A. ; Valenzuela, Irene ; Trujillano, Laura ; Lasa-Aranzasti, Amaia ; Campos, Berta ; Castells, Neus ; Verberne, Eline A. ; Maas, Saskia ; Alders, Mariëlle ; Mannens, Marcel M. A. M. ; van Haelst, Mieke M. ; Sadikovic, Bekim ; Henneman, Peter
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (18), p.14240
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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1752-1758
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
Author / Creator:Foroutan, Aidin ; Haghshenas, Sadegheh ; Bhai, Pratibha ; Levy, Michael A ; Kerkhof, Jennifer ; McConkey, Haley ; Niceta, Marcello ; Ciolfi, Andrea ; Pedace, Lucia ; Miele, Evelina ; Genevieve, David ; Heide, Solveig ; Alders, Mariëlle ; Zampino, Giuseppe ; Merla, Giuseppe ; Fradin, Mélanie ; Bieth, Eric ; Bonneau, Dominique ; Dieterich, Klaus ; Fergelot, Patricia ; Schaefer, Elise ; Faivre, Laurence ; Vitobello, Antonio ; Maitz, Silvia ; Fischetto, Rita ; Gervasini, Cristina ; Piccione, Maria ; van de Laar, Ingrid ; Tartaglia, Marco ; Sadikovic, Bekim ; Lebre, Anne-Sophie
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-02, Vol.23 (3), p.1815
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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Author / Creator:Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen ; Skinner, Steven A ; Reilly, Jack ; Kerkhof, Jennifer ; Curry, Cynthia J ; Tarpey, Patrick S ; Robertson, Stephen P ; Maystadt, Isabelle ; Keren, Boris ; Dixon, Joanne W ; Skinner, Cindy ; Stapleton, Rachel ; Ruaud, Lyse ; Gumus, Evren ; Lakeman, Phillis ; Alders, Mariëlle ; Tedder, Matthew L ; Schwartz, Charles E ; Friez, Michael J ; Sadikovic, Bekim ; Stevenson, Roger E
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.420-427
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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Author / Creator:Verberne, Eline A. ; van der Laan, Liselot ; Haghshenas, Sadegheh ; Rooney, Kathleen ; Levy, Michael A. ; Alders, Mariëlle ; Maas, Saskia M. ; Jansen, Sandra ; Lieden, Agne ; Anderlid, Britt-Marie ; Rafael-Croes, Louise ; Campeau, Philippe M. ; Chaudhry, Ayeshah ; Koolen, David A. ; Pfundt, Rolph ; Hurst, Anna C. E. ; Tran-Mau-Them, Frederic ; Bruel, Ange-Line ; Lambert, Laetitia ; Isidor, Bertrand ; Mannens, Marcel M. A. M. ; Sadikovic, Bekim ; Henneman, Peter ; van Haelst, Mieke M.
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-07, Vol.23 (14), p.8001
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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome
Author / Creator:van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle ; Relator, Raissa ; McConkey, Haley ; Kerkhof, Jennifer ; Levy, Michael A ; Lauffer, Peter ; Aerden, Mio ; Theunis, Miel ; Legius, Eric ; Tedder, Matthew L ; Vissers, Lisenka E L M ; Koene, Saskia ; Ruivenkamp, Claudia ; Hoffer, Mariette J V ; Wieczorek, Dagmar ; Bramswig, Nuria C ; Herget, Theresia ; González, Vanesa López ; Santos-Simarro, Fernando ; Tørring, Pernille M ; Denomme-Pichon, Anne-Sophie ; Isidor, Bertrand ; Keren, Boris ; Julia, Sophie ; Schaefer, Elise ; Francannet, Christine ; Maillard, Pierre-Yves ; Misra-Isrie, Mala ; Van Esch, Hilde ; Mannens, Marcel M A M ; Sadikovic, Bekim ; van Haelst, Mieke M ; Henneman, Peter
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-11, Vol.23 (22), p.13664
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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center
Author / Creator:Kleinendorst, Lotte ; Abawi, Ozair ; van der Voorn, Bibian ; Jongejan, Mieke H. T. M ; Brandsma, Annelies E ; Visser, Jenny A ; van Rossum, Elisabeth F. C ; van der Zwaag, Bert ; Alders, Mariëlle ; Boon, Elles M. J ; van Haelst, Mieke M ; van den Akker, Erica L. T
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2020-12, Vol.15 (12), p.e0244508
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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
Author / Creator:van der Sluijs, Pleuntje J ; Alders, Mariëlle ; Dingemans, Alexander J M ; Parbhoo, Kareesma ; van Bon, Bregje W ; Dempsey, Jennifer C ; Doherty, Dan ; den Dunnen, Johan T ; Gerkes, Erica H ; Milller, Ilana M ; Moortgat, Stephanie ; Regier, Debra S ; Ruivenkamp, Claudia A L ; Schmalz, Betsy ; Smol, Thomas ; Stuurman, Kyra E ; Vincent-Delorme, Catherine ; de Vries, Bert B A ; Sadikovic, Bekim ; Hickey, Scott E ; Rosenfeld, Jill A ; Maystadt, Isabelle ; Santen, Gijs W E
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (8), p.1275
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Erratum: Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center
Author / Creator:Kleinendorst, Lotte ; Abawi, Ozair ; van der Voorn, Bibian ; Jongejan, Mieke H T M ; Brandsma, Annelies E ; Visser, Jenny A ; van Rossum, Elisabeth F C ; van der Zwaag, Bert ; Alders, Mariëlle ; Boon, Elles M J ; van Haelst, Mieke M ; van den Akker, Erica L T
Publisher:United States: Public Library of Science (PLoS)
Journal title:PloS one, 2020, Vol.15 (12), p.e0244508-e0244508
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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
Author / Creator:Huijsdens-van Amsterdam, Karin ; Barge-Schaapveld, Daniela Qcm ; Mathijssen, Inge B ; Alders, Mariëlle ; Pajkrt, Eva ; Knegt, Alida C
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2012-01, Vol.5 (1), p.8-8, Article 8
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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
Author / Creator:Zwaveling-Soonawala, Nitash ; Alders, Marielle ; Jongejan, Aldo ; Kovačič, Lidija ; Duijkers, Floor A ; Maas, Saskia M ; Fliers, Eric ; van Trotsenburg, A S Paul ; Hennekam, Raoul C
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.415-428
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Guidelines for diagnostic next-generation sequencing

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Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature

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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

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"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome

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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

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Guidelines for diagnostic next-generation sequencing

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Mutations in IRS4 are associated with central hypothyroidism

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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

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

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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome

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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome

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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

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Erratum: Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

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