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Year Number of Results
2013 2
2014 2
2016 1
2018 1
2019 4
2020 4
2021 4
2022 2
2023 3
2024 1

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20 results

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Page 1
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: stuurman ke. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: stuurman ke. Transl Psychiatry. 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. Transl Psychiatry. 2022. PMID: 36182950 Free PMC article.
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F, Stuurman KE, de Bruin C, van Slegtenhorst M, van Duyvenvoorde HA, Kant SG, Ehmke N. Boschann F, et al. Among authors: stuurman ke. Am J Med Genet A. 2020 Mar;182(3):431-436. doi: 10.1002/ajmg.a.61419. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769200
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Among authors: stuurman ke. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
van Geest FS, Meima ME, Stuurman KE, Wolf NI, van der Knaap MS, Lorea CF, Poswar FO, Vairo F, Brunetti-Pierri N, Cappuccio G, Bakhtiani P, de Munnik SA, Peeters RP, Visser WE, Groeneweg S. van Geest FS, et al. Among authors: stuurman ke. J Clin Endocrinol Metab. 2021 Jan 23;106(2):539-553. doi: 10.1210/clinem/dgaa795. J Clin Endocrinol Metab. 2021. PMID: 33141165 Free PMC article.
The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study.
Severijns Y, Heijmans MWF, de Die-Smulders CEM, Bijlsma EK, Corsten-Janssen N, Joosten SJR, van Kuijk SMJ, Lichtenbelt KD, Ottenheim CPE, Stuurman KE, Tan-Sindhunata GMB, de Vries H, van Osch LADM. Severijns Y, et al. Among authors: stuurman ke. J Genet Couns. 2023 Feb;32(1):153-165. doi: 10.1002/jgc4.1631. Epub 2022 Sep 3. J Genet Couns. 2023. PMID: 36056622 Free PMC article.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study; Sticht H, Gregor A, Van Esch H, Zweier C. Konrad EDH, et al. Among authors: stuurman ke. Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239556 Free PMC article.
20 results