The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009 A Bayat, H Hjalgrim, RS Møller Epilepsia 56 (4), e36-e39, 2015 | 145 | 2015 |
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine 21 (6), 1295-1307, 2019 | 126 | 2019 |
Nitrous oxide provides safe and effective analgesia for minor paediatric procedures--a systematic review. RS Pedersen, A Bayat, NP Steen, ML Jacobsson children 9, 11, 2013 | 95 | 2013 |
PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 92 | 2019 |
Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes CGF De Kovel, S Syrbe, EH Brilstra, N Verbeek, B Kerr, H Dubbs, A Bayat, ... JAMA neurology 74 (10), 1228-1236, 2017 | 90 | 2017 |
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ... Genome medicine 10, 1-13, 2018 | 88 | 2018 |
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ... Genetics in Medicine 20 (9), 965-975, 2018 | 86 | 2018 |
Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy A Bayat, M Bayat, G Rubboli, RS Møller Genes 12 (7), 1051, 2021 | 66 | 2021 |
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients L Garavelli, I Ivanovski, SG Caraffi, D Santodirocco, M Pollazzon, ... Genetics in Medicine 19 (6), 691-700, 2017 | 59 | 2017 |
Characteristics and outcome of Goodpasture’s disease in children A Bayat, K Kamperis, T Herlin Clinical rheumatology 31, 1745-1751, 2012 | 45 | 2012 |
Lessons learned from 40 novel PIGA patients and a review of the literature A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ... Epilepsia 61 (6), 1142-1155, 2020 | 42 | 2020 |
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics A Bayat, A Knaus, AW Juul, D Dukic, E Gardella, A Charzewska, ... Genetics in Medicine 21 (10), 2216-2223, 2019 | 27 | 2019 |
Impact of genetic testing on therapeutic decision-making in childhood-onset epilepsies—a study in a tertiary epilepsy center A Bayat, CD Fenger, TR Techlo, AF Højte, I Nørgaard, TF Hansen, ... Neurotherapeutics 19 (4), 1353-1367, 2022 | 25 | 2022 |
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations A Bayat, B Kerr, S Douzgou Clinical Dysmorphology 26 (4), 247-251, 2017 | 25 | 2017 |
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome V Ismail, LG Zachariassen, A Godwin, M Sahakian, S Ellard, KL Stals, ... The American Journal of Human Genetics 109 (7), 1217-1241, 2022 | 24 | 2022 |
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism F Miceli, C Millevert, MV Soldovieri, I Mosca, P Ambrosino, L Carotenuto, ... EBioMedicine 81, 2022 | 23 | 2022 |
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum KM Johannesen, E Gardella, CE Gjerulfsen, A Bayat, RPW Rouhl, ... Neurology: Genetics 7 (6), e613, 2021 | 23 | 2021 |
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder J Courraud, E Chater-Diehl, B Durand, M Vincent, ... Genetics in Medicine 23 (11), 2150-2159, 2021 | 23 | 2021 |
A clinical scoring system for congenital contractural arachnodactyly I Meerschaut, S De Coninck, W Steyaert, A Barnicoat, A Bayat, ... Genetics in Medicine 22 (1), 124-131, 2020 | 22 | 2020 |
Prevalence and causes of infantile nystagmus in a large population‐based Danish cohort K Hvid, KR Nissen, A Bayat, L Roos, K Grønskov, L Kessel Acta ophthalmologica 98 (5), 506-513, 2020 | 21 | 2020 |