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Page 1
A catalog of hemizygous variation in 127 22q11 deletion patients.
Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR. Hestand MS, et al. Among authors: van houdt j. Hum Genome Var. 2016 Jan 14;3:15065. doi: 10.1038/hgv.2015.65. eCollection 2016. Hum Genome Var. 2016. PMID: 27274857 Free PMC article.
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Among authors: van kampen ah, van den boogaard mj, van schaik bd, van dijck p. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
Pseudoautosomal region 1 length polymorphism in the human population.
Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR. Mensah MA, et al. Among authors: van esch h, van houdt j. PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25375121 Free PMC article.
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Bayindir B, et al. Among authors: van den bogaert k, van esch h, van houdt j, van der veken l. Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14. Eur J Hum Genet. 2015. PMID: 25585704 Free PMC article.
78 results