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Erik Sistermans
Erik Sistermans
Head of Genome Diagnostics, Amsterdam University Medical Centers
Verified email at amsterdamumc.nl - Homepage
Title
Cited by
Cited by
Year
Germline KRAS mutations cause Noonan syndrome
S Schubbert, M Zenker, SL Rowe, S Böll, C Klein, G Bollag, ...
Nature genetics 38 (3), 331-336, 2006
8952006
Guidelines for diagnostic next-generation sequencing
G Matthijs, E Souche, M Alders, A Corveleyn, S Eck, I Feenstra, V Race, ...
European Journal of Human Genetics 24 (1), 2-5, 2016
6922016
Diagnostic genome profiling in mental retardation
BBA De Vries, R Pfundt, M Leisink, DA Koolen, LELM Vissers, IM Janssen, ...
The American Journal of Human Genetics 77 (4), 606-616, 2005
6842005
A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism
DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ...
Nature genetics 38 (9), 999-1001, 2006
5242006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
T Kleefstra, HG Brunner, J Amiel, AR Oudakker, WM Nillesen, A Magee, ...
The American Journal of Human Genetics 79 (2), 370-377, 2006
4452006
TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands
KRM van der Meij, EA Sistermans, MVE Macville, SJC Stevens, CJ Bax, ...
The American Journal of Human Genetics 105 (6), 1091-1101, 2019
3442019
PPIB mutations cause severe osteogenesis imperfecta
FS van Dijk, IM Nesbitt, EH Zwikstra, PGJ Nikkels, SR Piersma, ...
The American Journal of Human Genetics 85 (4), 521-527, 2009
3362009
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length‐dependent axonal degeneration in the absence of demyelination and inflammation
JY Garbern, DA Yool, GJ Moore, IB Wilds, MW Faulk, M Klugmann, ...
Brain 125 (3), 551-561, 2002
3362002
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
L Willatt, J Cox, J Barber, ED Cabanas, A Collins, D Donnai, ...
The American Journal of Human Genetics 77 (1), 154-160, 2005
2722005
L1 retrotransposition can occur early in human embryonic development
JAJM van den Hurk, IC Meij, M del Carmen Seleme, H Kano, ...
Human molecular genetics 16 (13), 1587-1592, 2007
2342007
PLS3 mutations in X-linked osteoporosis with fractures
FS van Dijk, MC Zillikens, D Micha, M Riessland, CLM Marcelis, ...
New England Journal of Medicine 369 (16), 1529-1536, 2013
2312013
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
DA Koolen, WM Nillesen, MHA Versteeg, GFM Merkx, N Knoers, M Kets, ...
Journal of medical genetics 41 (12), 892-899, 2004
2202004
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T Kleefstra, M Smidt, MJG Banning, AR Oudakker, H Van Esch, ...
Journal of medical genetics 42 (4), 299-306, 2005
2192005
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations
NMML Stikkelbroeck, LH Hoefsloot, IJ De Wijs, BJ Otten, ARMM Hermus, ...
The Journal of Clinical Endocrinology & Metabolism 88 (8), 3852-3859, 2003
2152003
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ...
Neurology 83 (21), 1898-1905, 2014
2132014
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis
H Holstege, W Pfeiffer, D Sie, M Hulsman, TJ Nicholas, CC Lee, T Ross, ...
Genome research 24 (5), 733-742, 2014
2052014
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
DA Koolen, R Pfundt, N de Leeuw, JY Hehir‐Kwa, WM Nillesen, I Neefs, ...
Human mutation 30 (3), 283-292, 2009
1992009
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ...
The American Journal of Human Genetics 92 (2), 210-220, 2013
1912013
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
L Pizzo, M Jensen, A Polyak, JA Rosenfeld, K Mannik, A Krishnan, ...
Genetics in Medicine 21 (4), 816-825, 2019
1822019
Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact
D Oepkes, GC Page‐Christiaens, CJ Bax, MN Bekker, CM Bilardo, ...
Prenatal Diagnosis 36 (12), 1083-1090, 2016
1802016
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