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Page 1
Clinical experience of unexpected findings in prenatal array testing.
Joosten M, Diderich KE, Van Opstal D, Govaerts LC, Riedijk SR, Prinsen AK, De Vries FA, Go AT, Galjaard RJ, Srebniak MI. Joosten M, et al. Among authors: govaerts lc. Biomark Med. 2016 Aug;10(8):831-40. doi: 10.2217/bmm-2016-0054. Epub 2016 Jul 14. Biomark Med. 2016. PMID: 27414702
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, Boter M, Kromosoeto JNR, van Hassel DACM, Huijbregts G, van IJcken WFJ, Heydanus R, Dijkman A, Toolenaar T, de Vries FAT, Knijnenburg J, Go ATJI, Galjaard RH, Van Opstal D. Srebniak MI, et al. Hum Mutat. 2017 Jul;38(7):880-888. doi: 10.1002/humu.23232. Epub 2017 May 30. Hum Mutat. 2017. PMID: 28409863
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI. Van Opstal D, et al. Among authors: govaerts lcp. Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27. Prenat Diagn. 2018. PMID: 30187503 Free PMC article.
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Van Opstal D, van Veen S, Joosten M, Diderich KEM, Govaerts LCP, Polak J, van Koetsveld N, Boter M, Go ATJI, Papatsonis DNM, Prinsen K, Hoefsloot LH, Srebniak MI. Van Opstal D, et al. Among authors: govaerts lcp. Prenat Diagn. 2019 Oct;39(11):1016-1025. doi: 10.1002/pd.5531. Epub 2019 Aug 13. Prenat Diagn. 2019. PMID: 31321790 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: govaerts lcp. 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.
85 results