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 | 118 | 2019 |
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 | 99 | 2020 |
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 | 61 | 2019 |
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 | 44 | 2016 |
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 | 44 | 2015 |
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 | 31 | 2015 |
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 | 23 | 2020 |
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 | 23 | 2019 |
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 | 23 | 2016 |
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 | 21 | 2020 |
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 | 15 | 2023 |
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 | 12 | 2022 |
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 | 9 | 2020 |
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 | 8 | 2022 |
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 | 8 | 2019 |
Hypothalamic lipoma and growth hormone deficiency A Rochtus, J Vinckx, F de Zegher International Journal of Pediatric Endocrinology 2020, 1-3, 2020 | 7 | 2020 |
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 | 5 | 2022 |
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 | 5 | 2020 |
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 | 4 | 2023 |