| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 221 | 2017 |
| The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection LS De Vries, H Gunardi, PG Barth, LA Bok, MA Verboon-Maciolek, ... Neuropediatrics 35 (02), 113-119, 2004 | 215 | 2004 |
| Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder TS Koemans, T Kleefstra, MC Chubak, MH Stone, MRF Reijnders, ... PLoS genetics 13 (10), e1006864, 2017 | 148 | 2017 |
| The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families MD Fountain, E Aten, MT Cho, J Juusola, MA Walkiewicz, JW Ray, F Xia, ... Genetics in Medicine 19 (1), 45-52, 2017 | 119 | 2017 |
| Long‐term outcome in pyridoxine‐dependent epilepsy LA Bok, FJ Halbertsma, S Houterman, RA Wevers, C Vreeswijk, C Jakobs, ... Developmental Medicine & Child Neurology 54 (9), 849-854, 2012 | 119 | 2012 |
| Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ... Molecular genetics and metabolism 107 (3), 335-344, 2012 | 113 | 2012 |
| 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 | 112 | 2019 |
| Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ... Elife 6, e25730, 2017 | 102 | 2017 |
| Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder A Chaudhry, A Noor, B Degagne, K Baker, LA Bok, AF Brady, D Chitayat, ... Clinical genetics 88 (3), 224-233, 2015 | 90 | 2015 |
| PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ... Journal of medical genetics 55 (2), 104-113, 2018 | 72 | 2018 |
| Epidemiology of pyridoxine dependent seizures in the Netherlands JV Been, LA Bok, P Andriessen, WO Renier Archives of disease in childhood 90 (12), 1293-1296, 2005 | 72 | 2005 |
| Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature M Klaassens, D Morrogh, EM Rosser, F Jaffer, M Vreeburg, LA Bok, ... European Journal of Human Genetics 23 (5), 610-615, 2015 | 70 | 2015 |
| An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1) GS Salomons, LA Bok, EA Struys, LL Pope, PS Darmin, PB Mills, ... Annals of neurology 62 (4), 414-418, 2007 | 67 | 2007 |
| The EEG response to pyridoxine‐IV neither identifies nor excludes pyridoxine‐dependent epilepsy LA Bok, NM Maurits, MA Willemsen, C Jakobs, LK Teune, BT Poll‐The, ... Epilepsia 51 (12), 2406-2411, 2010 | 66 | 2010 |
| Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ... Journal of inherited metabolic disease 44 (1), 178-192, 2021 | 65 | 2021 |
| Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels LA Bok, E Struys, MAAP Willemsen, JV Been, C Jakobs Archives of disease in childhood 92 (8), 687-689, 2007 | 64 | 2007 |
| Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ... JIMD Reports, Volume 15, 47-57, 2015 | 63 | 2015 |
| Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ... The American Journal of Human Genetics 102 (1), 44-57, 2018 | 57 | 2018 |
| Extensive cerebral infarction in the newborn due to incontinentia pigmenti F Maingay-de Groof, MH Lequin, DW Roofthooft, AP Oranje, IF de Coo, ... European Journal of Paediatric Neurology 12 (4), 284-289, 2008 | 47 | 2008 |
| The measurement of urinary Δ1‐piperideine‐6‐carboxylate, the alter ego of α‐aminoadipic semialdehyde, in Antiquitin deficiency EA Struys, LA Bok, D Emal, S Houterman, MA Willemsen, C Jakobs Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2012 | 46 | 2012 |
