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Page 1
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC. Basart H, et al. Among authors: maas sm. Am J Med Genet A. 2015 Jun;167(6):1215-22. doi: 10.1002/ajmg.a.37044. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899317
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Basart H, Paes EC, Maas SM, van den Boogaard MJ, van Hagen JM, Breugem CC, Cobben JM, Don Griot JP, Lachmeijer AM, Lichtenbelt KD, van Nunen DP, van der Horst CM, Hennekam RC. Basart H, et al. Among authors: maas sm. Am J Med Genet A. 2015 Sep;167A(9):1983-92. doi: 10.1002/ajmg.a.37154. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033782
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: maas sm. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF, Cox IL, van Dooren MF, Lachmeijer AMA, Verhoeven VJM, van Hagen JM, Heijligers M, Klein Wassink-Ruiter JS, Koene S, Maas SM, Veenstra-Knol HE, Ploos van Amstel JK, Massink MPG, Mink van der Molen AB, van den Boogaard MH. Wurfbain LF, et al. Among authors: maas sm. Mol Syndromol. 2023 Aug;14(4):270-282. doi: 10.1159/000530256. Epub 2023 Jun 8. Mol Syndromol. 2023. PMID: 37589029 Free PMC article.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: maas sm. Hum Genet. 2024 May 24. doi: 10.1007/s00439-024-02679-w. Online ahead of print. Hum Genet. 2024. PMID: 38787418
110 results