Onderzoeker
Hannah Verdin
- Disciplines:Medische genomics, Moleculaire diagnostiek, Genetica, Ontwikkelingsgenetica, Genoomstructuur en -regulatie, Klinische genetica en moleculaire diagnostiek
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 31 mei 2020 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 okt 2009 → 30 sep 2018
Projecten
1 - 3 of 3
- Dissectie van het cis-regulatorisch landschap vna het FOXL2 genVanaf1 jan 2016 → 31 dec 2018Financiering: FWO Onderzoeksproject (incl. WEAVE projecten)
- Dissectie van het cis-regulatorisch landschap van het FOXL2 gen in ontwikkeling en ziekteVanaf1 okt 2014 → 31 mei 2020Financiering: FWO mandaten, BOF - Andere acties
- Functionele studie van long-range genetische defecten in humane ontwikkelingsaandoeningen.Vanaf1 okt 2009 → 30 sep 2013Financiering: FWO mandaten, BOF - Andere acties
Publicaties
1 - 10 van 49
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing(2023)
Auteurs: Nolwenn Jean-Marçais, Estrella López-Martín, Maria Antonietta Mencarelli, Sébastien Moutton, Rolph Pfundt, Hana Safraou, Christel Thauvin-Robinet, Julien Thevenon, Frédéric Tran Mau-Them, Bert B.A. de Vries, et al.
- Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders(2023)
Auteurs: Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans, Elke Debackere, Elke Bogaert, Sofie Symoens, Leslie Naesens, Elien Lecomte, David Crosiers, et al.
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing(2023)
Auteurs: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.
- Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study(2022)
Auteurs: Lloyd Tack, Anne-Françoise Spinoit, Piet Hoebeke, Stefan Riedl, Alexander Springer, Ursula Tonnhofer, Manuela Hiess, Julia Weninger, Ahmed Mahmoud, Kelly Tilleman, et al.
- Blepharophimosis, ptosis, and epicanthus inversus syndrome(2022)
Auteurs: Hannah Verdin, Charlotte Matton
- Marked hypotonia : an additional feature of ANO3-related movement disorder(2022)
Auteurs: Arnout Bruggeman, Nika Schuermans, Hannah Verdin, Bart Dermaut
- Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH(2021)
Auteurs: Tom Van Hoorde, Fanny Nerinckx, Elke kreps, Dimitri Roels, Philippe Huyghe, Hannah Verdin, Irina Balikova
Pagina's: 493 - 499 - Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer(2020)
Auteurs: Kezhi Yan, Justine Rousseau, Keren Machol, Laura A. Cross, Katherine E. Agre, Cynthia Forster Gibson, Anne Goverde, Kendra L. Engleman, Hannah Verdin, Elfride De Baere, et al.
- Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism(2020)
Auteurs: Elise Pozza, Hannah Verdin, Hilde Deconinck, Annelies Dheedene, Irina Balikova
- The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56(2020)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.