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Gijs Santen
Gijs Santen
Leiden University Medical Center
Bestätigte E-Mail-Adresse bei santenonline.nl
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Zitiert von
Jahr
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ...
Nature genetics 44 (12), 1370-1374, 2012
6462012
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
5112017
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ...
Nature genetics 44 (4), 379-380, 2012
3892012
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ...
Nature genetics 46 (2), 188-193, 2014
3772014
C offin–S iris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
2282013
Paternally Inherited IGF2 Mutation and Growth Restriction
M Begemann, B Zirn, G Santen, E Wirthgen, L Soellner, HM Büttel, ...
New England Journal of Medicine 373 (4), 349-356, 2015
2262015
Next‐generation diagnostics: Gene panel, exome, or whole genome?
Y Sun, CAL Ruivenkamp, MJV Hoffer, T Vrijenhoek, M Kriek, ...
Human mutation 36 (6), 648-655, 2015
1942015
Morphine glucuronidation in preterm neonates, infants and children younger than 3 years
CAJ Knibbe, EHJ Krekels, JN van den Anker, J DeJongh, GWE Santen, ...
Clinical pharmacokinetics 48, 371-385, 2009
1732009
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ...
Nature Neuroscience 20 (8), 1043-1051, 2017
1712017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1452017
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 4932, 2020
1412020
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, 2016
1192016
Skewed X-inactivation is common in the general female population
E Shvetsova, A Sofronova, R Monajemi, K Gagalova, HHM Draisma, ...
European Journal of Human Genetics 27 (3), 455-465, 2019
1162019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
EPJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine, 1, 2018
1122018
Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ...
The American Journal of Human Genetics 99 (1), 125-138, 2016
1062016
The ARID1B phenotype: What we have learned so far
GWE Santen, J Clayton‐Smith, ARID1B‐CSS consortium
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
1052014
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
1032017
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...
Human Genetics and Genomics Advances 3 (1), 2022
1002022
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability
GWE Santen, M Kriek, H van Attikum
Epigenetics 7 (11), 1219-1224, 2012
1002012
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
T Vrijenhoek, K Kraaijeveld, M Elferink, J De Ligt, E Kranendonk, ...
European Journal of Human Genetics 23 (9), 1142-1150, 2015
992015
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