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Researcher
Hilde Van Esch
- Disciplines:Genetics, Molecular medicine, Medical genomics
Affiliations
- Laboratory for Genetics of Cognition (Division)
Responsible
From1 Apr 2010 → Today - Clinical Genetics (Division)
Member
From1 Apr 2009 → 30 Sep 2009 - Faculty of Medicine (Faculty)
Member
From1 Oct 2004 → 30 Sep 2005 - Department of Human Genetics (Department)
Member
From1 Oct 2002 → Today
Projects
1 - 10 of 14
- Linking neurodevelopmental disorders and mitochondria in human neuronsFrom1 Oct 2023 → TodayFunding: BOF - projects
- Global Citizens’ Assembly on Genome Editing. Connecting citizens, science and global governanceFrom1 Aug 2020 → TodayFunding: Own budget, for example: patrimony, inscription fees, gifts
- Global Citizen's Assembly on Genome Editing. Connecting citizens, science and global governanceFrom1 Aug 2020 → TodayFunding: Own budget, for example: patrimony, inscription fees, gifts
- Development of an in vivo human neuronal model for MECP2 related disordersFrom1 Jun 2020 → 31 May 2022Funding: Foreign private sponsor - undefined
- in vivo model for MECP2 - related diseases using iPSC and xenotransplantationFrom30 Oct 2019 → TodayFunding: Foundations, funds and other with scientific goal
- Building in vivo human neuronal models of neurodevelopmental diseases.From1 Oct 2019 → 30 Sep 2023Funding: BOF - projects
- Combining two leading edge technologies, high-throughput sequencing and induced pluripotent stem cell technology, to identify novel genes involved in brain functioningFrom1 Jan 2013 → 31 Dec 2016Funding: FWO research project
- Identification and functional characterization of novel genes causing syndromic microcephaly.From16 Nov 2011 → 8 Feb 2018Funding: FWO fellowships
- A functional human genome project: integrated research of human congenital disorders.From1 Oct 2011 → 30 Sep 2016Funding: BOF - Concerted Research Project from 1994
- The development and study of a patient-specific human neuronal model for the MECP2 duplication syndrome.From1 May 2011 → 30 Apr 2014Funding: Foreign foundations, funds with scientific view
Publications
1 - 10 of 191
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders(2023)
Authors: Hilde Van Esch
Pages: 5031 - 5043 - Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography(2023)
Authors: Janneke Kuiper, Pascal Borry, Danya Vears, Hilde Van Esch, Ine Van Hoyweghen
Pages: 1387 - 1392 - PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework(2023)
Authors: Hilde Van Esch
Pages: 1598 - + - Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia(2023)
Authors: Kris Van Den Bogaert, Hilde Van Esch
- De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues(2023)
Authors: Hilde Van Esch
Pages: 949 - 964 - 22q11.2 rearrangements caused by NAHR and PATRR-mediated pathways(2023)
Authors: Jeroen Breckpot, Hilde Van Esch
Pages: 59 - 59 - ERN-ITHACA: European Reference Network on congenital malformations and rare neurodevelopmental disabilities(2023)
Authors: Hilde Van Esch
Pages: 326 - 327 - Establishing the neurodevelopmental phenotype and genotype-phenotype correlations in individuals with a TRIP12 mutation(2023)
Authors: Mio Aerden, Eric Legius, Hilde Van Esch
Pages: 446 - 446 - The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant(2023)
Authors: Mio Aerden, Eric Legius, Miel Theunis, Hilde Van Esch
Pages: 461 - 468 - Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations(2023)
Authors: Joke De Vocht, Fouke Ombelet, Pegah Masrori, Hilde Van Esch, Michel Koole, Patrick Dupont, Koen Van Laere, Philip Van Damme