Author

Bobby Koeleman

Medical Genetics, University Medical Center Utrecht, The Netherlands - Cited by 24,705 - genetics

Biography

Dr. Bobby Koeleman is Group Leader at the Department of Genetics within the Center for Molecular Medicine at the University Medical Center Utrecht since 2001. He is an expert in genetics, dedicated to find genetic causes of both common and rare genetic disease, and subsequently aims to translate the genetic finding to clinical relevance. His research has been published in Nature Genetics, Brain, Lancet Neurology and Human Molecular Genetics.
Title
Cited by
Year
Polygenic burden in focal and generalized epilepsies
C Leu, R Stevelink, AW Smith, SB Goleva, M Kanai, L Ferguson, ...Brain 142 (11), 3473-3481, 2019201
94
2019
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
D Lal, P May, E Perez-Palma, KE Samocha, JA Kosmicki, EB Robinson, ...Genome medicine 12, 1-12, 2020202
56
2020
NaV1. 1 and NaV1. 6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome
WJ Weuring, S Singh, L Volkers, MB Rook, RH van ‘t Slot, M Bosma, ...PloS one 15 (3), e0219106, 2020202
30
2020
Implications of genetic diagnostics in epilepsy surgery candidates: A single‐center cohort study
MWCB Sanders, CMC Lemmens, FE Jansen, EH Brilstra, BPC Koeleman, ...Epilepsia Open 4 (4), 609-617, 2019201
29
2019
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
H Stamberger, TB Hammer, E Gardella, DRM Vlaskamp, B Bertelsen, ...Genetics in Medicine 23 (2), 363-373, 2021202
28
2021
Climate change and epilepsy: Insights from clinical and basic science studies
MI Gulcebi, E Bartolini, O Lee, CP Lisgaras, F Onat, J Mifsud, P Striano, ...Epilepsy & Behavior 116, 107791, 2021202
28
2021
Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes
LA Claessens, J Wesselius, M van Lummel, S Laban, F Mulder, D Mul, ...Diabetologia 63, 351-361, 2020202
22
2020
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
S Wolking, H Schulz, AT Nies, M McCormack, E Schaeffeler, P Auce, ...Pharmacogenomics 21 (5), 325-335,
20
2020
Testing association of rare genetic variants with resistance to three common antiseizure medications
S Wolking, C Moreau, AT Nies, E Schaeffeler, M McCormack, P Auce, ...Epilepsia 61 (4), 657-666,
20
2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy
GL Carvill, KL Helbig, CT Myers, M Scala, R Huether, S Lewis, TN Kruer, ...Human mutation 41 (7), 1263-1279, 2020202
17
2020
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy
S Wolking, C Moreau, M McCormack, R Krause, M Krenn, ...Annals of clinical and translational neurology 8 (7), 1376-1387, 2021202
14
2021
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: a possible gradient in severity?
B Benova, MWCB Sanders, A Uhrova-Meszarosova, A Belohlavkova, ...European Journal of Paediatric Neurology 30, 88-96, 2021202
13
2021
Genomic and clinical predictors of lacosamide response in refractory epilepsies
SB Heavin, M McCormack, S Wolking, L Slattery, N Walley, A Avbersek, ...Epilepsia Open 4 (4), 563-571, 2019201
11
2019
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
S Singh, A Gupta, M Zech, AN Sigafoos, KJ Clark, Y Dincer, M Wagner, ...Genetics in medicine 22 (8), 1413-1417, 2020202
11
2020
Using common genetic variants to find drugs for common epilepsies
N Mirza, R Stevelink, B Taweel, BPC Koeleman, AG MarsonBrain communications 3 (4), fcab287, 2021202
10
2021
Gene therapies for monogenic autism spectrum disorders
W Weuring, J Geerligs, BPC KoelemanGenes 12 (11), 1667, 2021202
10
2021
Symptomatology of carbamazepine‐and oxcarbazepine‐induced hyponatremia in people with epilepsy
B Berghuis, J Hulst, A Sonsma, M McCormack, GJ de Haan, JW Sander, ...Epilepsia 62 (3), 778-784, 2021202
9
2021
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam
C Campbell, M McCormack, S Patel, C Stapleton, D Bobbili, R Krause, ...Epilepsia 63 (6), 1563-1570, 2022202
9
2022
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual …
R Stevelink, D Al-Toma, FE Jansen, HJ Lamberink, AA Asadi-Pooya, ...EClinicalMedicine, 2022202
7
2022
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture
International League Against Epilepsy Consortium on Complex EpilepsiesMedRxiv, 2022.06. 08.2226120, 2022202
7
2022

Referred From: https://scholar.google.com/citations?hl=en&user=ph2n5v8AAAAJ

Cited by
Citations 24705
h-index 77
i10-index 214
Open Access Journals