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Page 1
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Wilderman A, D'haene E, Baetens M, Yankee TN, Winchester EW, Glidden N, Roets E, Van Dorpe J, Janssens S, Miller DE, Galey M, Brown KM, Stottmann RW, Vergult S, Weaver KN, Brugmann SA, Cox TC, Cotney J. Wilderman A, et al. Among authors: janssens s. Nat Commun. 2024 Jan 2;15(1):136. doi: 10.1038/s41467-023-44506-2. Nat Commun. 2024. PMID: 38167838 Free PMC article.
Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.
De Witte L, Baetens M, Tilleman K, Vanden Meerschaut F, Janssens S, Van Tongerloo A, Szymczak V, Stoop D, Dheedene A, Symoens S, Menten B. De Witte L, et al. Among authors: janssens s. Hum Reprod Open. 2024 Sep 18;2024(4):hoae056. doi: 10.1093/hropen/hoae056. eCollection 2024. Hum Reprod Open. 2024. PMID: 39391861 Free PMC article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: janssens s. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B. Bonnin E, et al. Among authors: janssens s. PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30543681 Free PMC article.
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
van Riel M, Brison N, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bulk S, De Leener A, Désir J, Devriendt K, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens S, Khudashvili N, Lannoo L, Marichal A, Meunier C, Palmeira L, Parijs I, Pichon B, Roets E, Sammels E, Smits G, Suenaert M, Sznajer Y, Van den Bogaert K, Vancoillie L, Vandeputte L, Vantroys E, Vermeesch JR, Janssens K. van Riel M, et al. Among authors: janssens s, janssens k. Obstet Gynecol. 2021 Jun 1;137(6):1102-1108. doi: 10.1097/AOG.0000000000004385. Obstet Gynecol. 2021. PMID: 33957658 Free article.
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.
Parijs I, Brison N, Vancoillie L, Baetens M, Blaumeiser B, Boulanger S, Désir J, Dimitrov B, Fieremans N, Janssens K, Janssens S, Marichal A, Menten B, Meunier C, Van Berkel K, Van Den Bogaert A, Devriendt K, Van Den Bogaert K, Vermeesch JR. Parijs I, et al. Among authors: janssens s, janssens k. Eur J Hum Genet. 2024 Jan;32(1):31-36. doi: 10.1038/s41431-023-01336-6. Epub 2023 Apr 7. Eur J Hum Genet. 2024. PMID: 37029316
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.
Brady PD, Delle Chiaie B, Christenhusz G, Dierickx K, Van Den Bogaert K, Menten B, Janssens S, Defoort P, Roets E, Sleurs E, Keymolen K, De Catte L, Deprest J, de Ravel T, Van Esch H, Fryns JP, Devriendt K, Vermeesch JR. Brady PD, et al. Among authors: janssens s. Genet Med. 2014 Jun;16(6):469-76. doi: 10.1038/gim.2013.168. Epub 2013 Oct 31. Genet Med. 2014. PMID: 24177055 Free article.
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. Szafranski P, et al. Among authors: janssens s. Hum Mutat. 2018 Dec;39(12):1916-1925. doi: 10.1002/humu.23608. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30084155 Free PMC article.
753 results