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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: lechner r. 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.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC. Demirdas S, et al. Among authors: lechner r. Circ Genom Precis Med. 2024 Jun;17(3):e003978. doi: 10.1161/CIRCGEN.122.003978. Epub 2024 Apr 16. Circ Genom Precis Med. 2024. PMID: 38623759 Free PMC article.
Omphalocele: from diagnosis to growth and development at 2 years of age.
Hijkoop A, Peters NCJ, Lechner RL, van Bever Y, van Gils-Frijters APJM, Tibboel D, Wijnen RMH, Cohen-Overbeek TE, IJsselstijn H. Hijkoop A, et al. Arch Dis Child Fetal Neonatal Ed. 2019 Jan;104(1):F18-F23. doi: 10.1136/archdischild-2017-314700. Epub 2018 Mar 21. Arch Dis Child Fetal Neonatal Ed. 2019. PMID: 29563149
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC; N=1 Collaborative. Cheerie D, et al. Among authors: lechner r. Am J Hum Genet. 2025 May 1;112(5):975-983. doi: 10.1016/j.ajhg.2025.02.017. Epub 2025 Mar 25. Am J Hum Genet. 2025. PMID: 40139194 Free PMC article. Review.
Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures.
van Gurp JE, Lechner RL, Micha D, Maugeri A, Dulfer E, van Dijk FS, Keszthelyi D, Malfatti E, Kubo A, Voermans NC, Demirdas S. van Gurp JE, et al. Among authors: lechner rl. Clin Transl Gastroenterol. 2025 Mar 1;16(3):e00821. doi: 10.14309/ctg.0000000000000821. Clin Transl Gastroenterol. 2025. PMID: 39807789 Free PMC article.
Multipliers on bi-parameter Haar system Hardy spaces.
Lechner R, Motakis P, Müller PFX, Schlumprecht T. Lechner R, et al. Math Ann. 2024;390(4):5669-5752. doi: 10.1007/s00208-024-02887-9. Epub 2024 May 25. Math Ann. 2024. PMID: 39678251 Free PMC article.
141 results