Advancing diagnosis and early risk assessment of preeclampsia through noninvasive cell-free DNA methylation profiling

Authors: Machteld Baetens, Bram Van Gaever, Stephanie Deblaere, Andries De Koker, Leander Meuris, Nico Callewaert, Sandra Janssens, Kristien Roelens, Ellen Roets, Jo Van Dorpe, Isabelle Dehaene, Björn Menten

Source: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-15 (2024)

Subject Terms: Preeclampsia, Placental insufficiency, Cell-free DNA, CfDNA methylation, Epigenetics, Differentially methylated regions, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/1602b15328494e369912b64939a7b353

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Authors: Griet De Clercq, Lies Vantomme, Barbara Dewaele, Bert Callewaert, Olivier Vanakker, Sandra Janssens, Bart Loeys, Mojca Strazisar, Wouter De Coster, Joris Robert Vermeesch, Annelies Dheedene, Björn Menten

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: Long-read sequencing, Optical genome mapping, Structural variation, Clinical genomics, Chromothripsis, Complex genomic rearrangements, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/ddf31f2fa73e4d6bbc89654922dff66c

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Authors: Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

Source: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/d8bfbb8f7d514cd7a8d154657d67b4ca

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Authors: Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson

Source: Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)

Subject Terms: Congenital hydrocephalus, Oligogenic inheritance, Exome sequencing, Mutation burden test, Cilia, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7a

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views

Authors: Sandra Janssens, Davit Chokoshvili, Danya F. Vears, Anne De Paepe, Pascal Borry

Source: BMC Medical Ethics, Vol 18, Iss 1, Pp 1-10 (2017)

Subject Terms: Expanded carrier screening, Pre-test counseling, Post-test counseling, Interviews, Medical philosophy. Medical ethics, R723-726

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12910-017-0206-9; https://doaj.org/toc/1472-6939

Access URL: https://doaj.org/article/96b56b607d8142aca666d1c3338235b3

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Authors: Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog

Source: PLoS Genetics, Vol 14, Iss 12, p e1007845 (2018)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/88c96d3ae2aa45ddb907f5a735313301

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