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Anne Rochtus
Anne Rochtus
Assistant Professor UZ/KU Leuven
在 uzleuven.be 的电子邮件经过验证
标题
引用次数
引用次数
年份
The genetic landscape of epilepsy of infancy with migrating focal seizures
R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, ...
Annals of neurology 86 (6), 821-831, 2019
1182019
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
A Rochtus, HE Olson, L Smith, LG Keith, C El Achkar, A Taylor, S Mahida, ...
Epilepsia 61 (2), 249-258, 2020
992020
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ...
Epilepsia 60 (3), 406-418, 2019
612019
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
A Rochtus, A Martin-Trujillo, B Izzi, F Elli, I Garin, A Linglart, G Mantovani, ...
Clinical epigenetics 8, 1-12, 2016
442016
DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects
A Rochtus, B Izzi, E Vangeel, S Louwette, C Wittevrongel, D Lambrechts, ...
Epigenetics 10 (1), 92-101, 2015
442015
Nutri-epigenomic studies related to neural tube defects: does folate affect neural tube closure via changes in DNA methylation?
A Rochtus, K Jansen, CV Geet, K Freson
Mini reviews in medicinal chemistry 15 (13), 1095-1102, 2015
312015
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
IE Scheffer, KE Boysen, AL Schneider, CT Myers, MG Mehaffey, ...
Developmental Medicine & Child Neurology 62 (9), 1096-1099, 2020
232020
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression
AM Rochtus, S Trowbridge, RD Goldstein, BR Sheidley, SP Prabhu, ...
Molecular Case Studies 5 (1), a003442, 2019
232019
Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube …
A Rochtus, R Winand, G Laenen, E Vangeel, B Izzi, C Wittevrongel, ...
Clinical Epigenetics 8, 1-12, 2016
232016
The role of sodium channels in sudden unexpected death in pediatrics
AM Rochtus, RD Goldstein, IA Holm, CA Brownstein, E Pérez‐Palma, ...
Molecular genetics & genomic medicine 8 (8), e1309, 2020
212020
SARS-CoV-2 infection and development of islet autoimmunity in early childhood
M Lugar, A Eugster, P Achenbach, T von dem Berge, R Berner, ...
JAMA 330 (12), 1151-1160, 2023
152023
Antiseizure medications and thyroid hormone homeostasis: literature review and practical recommendations
AM Rochtus, D Herijgers, K Jansen, B Decallonne
Epilepsia 63 (2), 259-270, 2022
122022
Antiepileptic drug teratogenicity and de novo genetic variation load
P Perucca, A Anderson, D Jazayeri, A Hitchcock, J Graham, M Todaro, ...
Annals of neurology 87 (6), 897-906, 2020
92020
A disease‐associated missense mutation in CYP4F3 affects the metabolism of leukotriene B4 via disruption of electron transfer
E Smeets, S Huang, XY Lee, E Van Nieuwenhove, C Helsen, F Handle, ...
Journal of Cachexia, Sarcopenia and Muscle 13 (4), 2242-2253, 2022
82022
Consortium
R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, ...
EIMFS, Sadleir, LG, Specchio, N., Guerrini, R., Marini, C., Zhang, YH …, 2019
82019
Hypothalamic lipoma and growth hormone deficiency
A Rochtus, J Vinckx, F de Zegher
International Journal of Pediatric Endocrinology 2020, 1-3, 2020
72020
Undiagnosed Diseases Network (2019)
M Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez-Palma, ...
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine …, 0
7
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives
DCM van der Kaay, A Rochtus, G Binder, I Kurth, D Prawitt, I Netchine, ...
Endocrine Connections 11 (11), 2022
52022
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature
C De Luca, YJ Crow, M Rodero, GI Rice, M Ahmed, M Lammens, ...
Clinical Genetics 98 (5), 423-432, 2020
52020
Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study
M Becker, M Thomas, C Brachet, C Heinrichs, H Dotremont, ...
Frontiers in endocrinology 14, 1112938, 2023
42023
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