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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: hoefsloot lh. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Among authors: hoefsloot lh. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Haarman AEG, Thiadens AAHJ, van Tienhoven M, Loudon SE, de Klein JEMMA, Brosens E, Polling JR, van der Schoot V, Bouman A, Kievit AJA, Hoefsloot LH, Klaver CCW, Verhoeven VJM. Haarman AEG, et al. Among authors: hoefsloot lh. Hum Mol Genet. 2022 Sep 29;31(19):3290-3298. doi: 10.1093/hmg/ddac113. Hum Mol Genet. 2022. PMID: 35567543 Free PMC article.
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ. Labrijn-Marks I, et al. Among authors: hoefsloot lh. Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737479 Free PMC article.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI. Diderich KEM, et al. Among authors: hoefsloot lh. Acta Obstet Gynecol Scand. 2021 Jun;100(6):1106-1115. doi: 10.1111/aogs.14053. Epub 2020 Dec 28. Acta Obstet Gynecol Scand. 2021. PMID: 33249554 Free PMC article.
158 results