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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.
Am J Hum Genet. 2016.
PMID: 26833328
Free PMC article.
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J.
Wincent J, et al.
Mol Syndromol. 2010;1(5):246-254. doi: 10.1159/000327982. Epub 2011 May 18.
Mol Syndromol. 2010.
PMID: 22140377
Free PMC article.
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.
Stessman HAF, et al. Among authors: marcelis cm.
Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004.
Am J Hum Genet. 2016.
PMID: 26942287
Free PMC article.
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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Dingemans AJM, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, Schuurs-Hoeijmakers J, van Bon BW, Marcelis C, Ockeloen CW, Willemsen M, van der Sluijs PJ, Santen GWE, Kooy RF, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Vissers LELM, de Vries BBA.
Dingemans AJM, et al.
Nat Med. 2024 May 14. doi: 10.1038/s41591-024-03005-7. Online ahead of print.
Nat Med. 2024.
PMID: 38745008
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Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.
Geelen J, Pfundt R, Meijer J, Verheijen FW, van Kuilenburg AB, Warris A, Marcelis C.
Geelen J, et al.
J Allergy Clin Immunol. 2013 Jul;132(1):222-3. doi: 10.1016/j.jaci.2012.11.006. Epub 2012 Dec 20.
J Allergy Clin Immunol. 2013.
PMID: 23260757
No abstract available.
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All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I.
Faas BHW, et al.
Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5.
Prenat Diagn. 2023.
PMID: 36647814
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Bias in patient series with VACTERL association.
Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IA.
Jenetzky E, et al. Among authors: marcelis cm.
Am J Med Genet A. 2011 Aug;155A(8):2039-41; author reply 2042-3. doi: 10.1002/ajmg.a.33983. Epub 2011 Jul 7.
Am J Med Genet A. 2011.
PMID: 21739573
No abstract available.
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VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CHW, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IALM, Solomon BD, Reutter HM.
Bartels E, et al. Among authors: marcelis cm.
Clin Dysmorphol. 2012 Oct;21(4):191-195. doi: 10.1097/MCD.0b013e328358243c.
Clin Dysmorphol. 2012.
PMID: 22895008
Free PMC article.
Review.
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