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Expanding the clinical spectrum of biallelic ZNF335 variants.
Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC. Stouffs K, et al. Among authors: seneca s. Clin Genet. 2018 Aug;94(2):246-251. doi: 10.1111/cge.13260. Epub 2018 May 3. Clin Genet. 2018. PMID: 29652087 Free PMC article.
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Régal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W. Jansen AC, et al. Among authors: seneca s. Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5. Neurology. 2011. PMID: 21403111
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.
Stouffs K, Daelemans S, Santos-Ribeiro S, Seneca S, Gheldof A, Gürbüz AS, De Vos M, Tournaye H, Blockeel C. Stouffs K, et al. Among authors: seneca s. J Assist Reprod Genet. 2019 Mar;36(3):491-497. doi: 10.1007/s10815-018-1372-5. Epub 2018 Nov 27. J Assist Reprod Genet. 2019. PMID: 30483911 Free PMC article.
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A, Seneca S, Stouffs K, Lissens W, Jansen A, Laeremans H, Verloo P, Schoonjans AS, Meuwissen M, Barca D, Martens G, De Meirleir L. Gheldof A, et al. Among authors: seneca s. Mol Genet Genomic Med. 2019 Feb;7(2):e00527. doi: 10.1002/mgg3.527. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548430 Free PMC article.
Genetic causes of male infertility.
Stouffs K, Seneca S, Lissens W. Stouffs K, et al. Among authors: seneca s. Ann Endocrinol (Paris). 2014 May;75(2):109-11. doi: 10.1016/j.ando.2014.03.004. Epub 2014 Apr 24. Ann Endocrinol (Paris). 2014. PMID: 24768008 Review.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Alston CL, et al. Among authors: seneca s. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374774 Free PMC article.
154 results