The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies von Diderich, Karin E M, Bruggenwirth, Hennie T, Joosten, Marieke, Thurik, Florentine, Mijalkovic, Jona, Polak, Marike, Kromosoeto, Joan, Somers-Bolman, Galhana M, van den Born, Myrthe, Drost, Mark, Galjaard, Robert Jan H, Galjaard, Sander, Hoefsloot, Lies H, Knapen, Maarten F C M, van Minkelen, Rick, van der Schoot, Vyne, van Slegtenhorst, Marjon A, Sleutels, Frank, Stuurman, Kyra E, Weerts, Marjolein J A, Go, Attie T J I, Wilke, Martina, Srebniak, Malgorzata I

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis von in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W.W.M. Pim

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays von Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J

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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family von KNIJNENBURG, Jeroen, VAN BEVER, Yolande, HULSMAN, Lorette O. M, VAN KEMPEN, Chantal A. P, BOLMAN, Galhana M, VAN LOON, Rosa Laura, BERNA BEVERLOO, H, VAN ZUTVEN, Laura J. C. M

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1 von van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M, van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M W

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Complete FXN deletion in a patient with Friedreich's ataxia von van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis von in't Groen, Stijn L.M, de Faria, Douglas O.S, Iuliano, Alessandro, van den Hout, Johanna M.P, Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Romero, Miguel-Angel Barba, de Klein, Annelies, Somers-Bolman, Galhana M, Saris, Jasper J, Hoefsloot, Lies H, van der Ploeg, Ans T, Bergsma, Atze J, Pijnappel, W.W.M. Pim

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