Følg
Marjolein Kriek
Marjolein Kriek
LUMC
Verificeret mail på lumc.nl
Titel
Citeret af
Citeret af
År
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
5012017
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
3852012
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
3762014
Implementing pharmacogenomics in Europe: design and implementation strategy of the ubiquitous pharmacogenomics consortium
CH van der Wouden, A Cambon‐Thomsen, E Cecchin, KC Cheung, ...
Clinical Pharmacology & Therapeutics 101 (3), 341-358, 2017
2872017
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents
C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ...
Journal of medical genetics 43 (2), 180-186, 2006
2652006
Comprehensive Detection of Genomic Duplications and Deletions in the< i> DMD</i> Gene, by Use of Multiplex Amplifiable Probe Hybridization
S White, M Kalf, Q Liu, M Villerius, D Engelsma, M Kriek, E Vollebregt, ...
The American Journal of Human Genetics 71 (2), 365-374, 2002
2442002
Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy
ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ...
The American Journal of Human Genetics 98 (5), 1020-1029, 2016
2322016
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
2232013
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W Oostdijk, ...
Nature genetics 44 (12), 1375-1381, 2012
2222012
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
SAJL Oberstein, M Kriek, SJ White, ME Kalf, K Szuhai, JT den Dunnen, ...
The American Journal of Human Genetics 79 (3), 562-566, 2006
2132006
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
1932015
Two‐color multiplex ligation‐dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses
SJ White, GR Vink, M Kriek, W Wuyts, J Schouten, B Bakker, MH Breuning, ...
Human mutation 24 (1), 86-92, 2004
1882004
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study
JJ Swen, CH van der Wouden, LEN Manson, H Abdullah-Koolmees, ...
The Lancet 401 (10374), 347-356, 2023
1642023
Decreased mortality of ischaemic heart disease among carriers of haemophilia
A Šrámek, M Kriek, FR Rosendaal
The Lancet 362 (9381), 351-354, 2003
1632003
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013
1282013
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
972015
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid …
Y Sun, R Almomani, GJ Breedveld, GWE Santen, E Aten, DJ Lefeber, ...
Human mutation 34 (5), 706-713, 2013
832013
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and …
M Kriek, SJ White, K Szuhai, J Knijnenburg, GJB van Ommen, ...
European journal of human genetics 14 (2), 180-189, 2006
752006
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
M Pennings, MI Schouten, J van Gaalen, RPP Meijer, ST de Bot, M Kriek, ...
European Journal of Human Genetics 28 (1), 40-49, 2020
722020
Systemet kan ikke foretage handlingen nu. Prøv igen senere.
Artikler 1–20