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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM. Schmidts M, et al. Among authors: van maarle mc. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. J Med Genet. 2013. PMID: 23456818 Free PMC article.
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM. Vos YJ, et al. Among authors: van maarle mc. J Med Genet. 2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19846429
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: van maarle mc, van rijn rr. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Stewart DR, et al. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 Free article.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH; Dutch NIPT consortium. van Prooyen Schuurman L, et al. Among authors: van maarle mc. Am J Hum Genet. 2022 Jun 2;109(6):1140-1152. doi: 10.1016/j.ajhg.2022.04.018. Am J Hum Genet. 2022. PMID: 35659929 Free PMC article.
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Among authors: van essen aj, van haeringen a, van maarle mc, van bever y. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.
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