Hilde Brems (H Brems)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 16

Top Topics

Intellectual Disability

Top Venues

Journal of medical genetics

Human reproduction (Oxford, England)

NPJ precision oncology

Genes, brain, and behavior

This page only lists publications with an associated author ORCID identifier.

Publications

Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ precision oncology 8 (1) (2024)
Steven Smeijers, Hilde Brems, Alexander Verhaeghe, Wim van Paesschen, Johannes Van Loon, Seppe Van der Auweraer, Raf M E Sciot, Dietmar Rudolf Thal, Lieven Lagae, Eric Legius, Tom Theys
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene. Journal of medical genetics 61 (9) (2024)
Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ precision oncology 8 (1) (2024)
Steven Smeijers, Hilde Brems, Alexander Verhaeghe, Wim van Paesschen, Johannes Van Loon, Seppe Van der Auweraer, Raf M E Sciot, Dietmar Rudolf Thal, Lieven Lagae, Eric Legius, Tom Theys
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene. Journal of medical genetics 61 (9) (2024)
Steven Smeijers, Hilde Brems, Alexander Verhaeghe, Wim van Paesschen, Johannes Van Loon, Seppe Van der Auweraer, Raf M E Sciot, Dietmar Rudolf Thal, Lieven Lagae, Eric Legius, Tom Theys
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene. Journal of medical genetics (2024)
Olga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, Joke Allemeersch, Cindy Melotte, Jia Ding, Sophie Debrock, Karen Peeraer, Arne Vanhie, Anne De Leener, Céline Pirard, Candice Kluyskens, Ellen Denayer, Eric Legius, Joris Robert Vermeesch, Hilde Brems, Eftychia Dimitriadou
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing. Human reproduction (Oxford, England) (2023)
Olga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, Joke Allemeersch, Cindy Melotte, Jia Ding, Sophie Debrock, Karen Peeraer, Arne Vanhie, Anne De Leener, Céline Pirard, Candice Kluyskens, Ellen Denayer, Eric Legius, Joris Robert Vermeesch, Hilde Brems, Eftychia Dimitriadou
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing. Human reproduction (Oxford, England) 38 (3) (2023)
Olga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, Joke Allemeersch, Cindy Melotte, Jia Ding, Sophie Debrock, Karen Peeraer, Arne Vanhie, Anne De Leener, Céline Pirard, Candice Kluyskens, Ellen Denayer, Eric Legius, Joris Robert Vermeesch, Hilde Brems, Eftychia Dimitriadou
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing. Human reproduction (Oxford, England) 38 (3) (2023)
Aude Beyens, Laure Dequeker, Hilde Brems, Sandra Janssens, Hannes Syryn, Anne D'Hooghe, Pascale De Paepe, Lieve Vanwalleghem, Annelies Stockman, Elena Vankwikelberge, Sofie De Schepper, Marleen Goeteyn, Patricia Delbeke, Bert Callewaert
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies. International journal of molecular sciences 23 (7) (2022)
Sarah C Borrie, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, Akihiko Yoshimura, Rudi D'Hooge, Ype Elgersma, Steven A Kushner, Eric Legius, Hilde Brems
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders. Molecular autism 12 (1) (2021)
Kristl G Claeys, Luc Breysem, Eric Legius, Hilde Brems, David Cassiman, Matthieu Moisse, Pieter Vermeersch, Levtchenko Elena, Jaak Jaeken
A Patient with neonatal cholestasis. Journal of mother and child 24 (4) (2021)
Quentin Jordens, Hannelore De Maeseneer, Hilde Brems, Dirk van Gysel
Congenital enlargement of toes. Pediatric dermatology 37 (5) (2021)
Sarah C Borrie, Alexa E Horner, Akihiko Yoshimura, Eric Legius, Maksym V Kopanitsa, Hilde Brems
Impaired instrumental learning in Spred1-/- mice, a model for a rare RASopathy. Genes, brain, and behavior 20 (5) (2021)
Eric Legius, Hilde Brems
Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 36 (10) (2020)
Carlijn Brekelmans, Silke Hollants, Caroline De Groote, Natalie Sohier, Marina Maréchal, Liesbet Geris, Frank P Luyten, Lieve Ginckels, Raf M E Sciot, Thomy de Ravel, Luc De Smet, Johan Lammens, Eric Legius, Hilde Brems
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site. Human mutation 40 (10) (2019)
M Steklov, S Pandolfi, Maria Francesca Baietti, A Batiuk, P Carai, P Najm, M Zhang, Hyunbum Jang, F Renzi, Y Cai, L Abbasi Asbagh, T Pastor, M De Troyer, M Simicek, Enrico Radaelli, Hilde Brems, Eric Legius, J Tavernier, Kris Gevaert, Francis Impens, L Messiaen, Ruth Nussinov, S Heymans, S Eyckerman, Anna A Sablina
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. Science (New York, N.Y.) 362 (6419) (2018)