Eric Hennekam
Eric Hennekam
Genetics UMC Utrecht University/ genealogical research
Geverifieerd e-mailadres voor umcutrecht.nl - Homepage
TitelGeciteerd doorJaar
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
M Alders, BM Hogan, E Gjini, F Salehi, L Al-Gazali, EA Hennekam, ...
Nature genetics 41 (12), 1272, 2009
2472009
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
M Van Blitterswijk, MA Van Es, EAM Hennekam, D Dooijes, ...
Human molecular genetics 21 (17), 3776-3784, 2012
2432012
Mutations in WNT10A are present in more than half of isolated hypodontia cases
MJ van den Boogaard, M Créton, Y Bronkhorst, A van der Hout, ...
Journal of medical genetics 49 (5), 327-331, 2012
1752012
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
MA Van Es, HJ Schelhaas, PWJ Van Vught, N Ticozzi, PM Andersen, ...
Annals of neurology 70 (6), 964-973, 2011
1602011
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation
MA van Es, FP Diekstra, JH Veldink, F Baas, PR Bourque, HJ Schelhaas, ...
Neurology 72 (3), 287-288, 2009
962009
Paternal age and psychiatric disorders: findings from a Dutch population registry
JE Buizer-Voskamp, W Laan, WG Staal, EAM Hennekam, MF Aukes, ...
Schizophrenia research 129 (2-3), 128-132, 2011
842011
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
JM Van Montfrans, EAR Hartman, KPJ Braun, EAM Hennekam, EA Hak, ...
Rheumatology 55 (5), 902-910, 2016
712016
A double hit implicates DIAPH3 as an autism risk gene
JAS Vorstman, E Van Daalen, GR Jalali, ERE Schmidt, RJ Pasterkamp, ...
Molecular psychiatry 16 (4), 442-451, 2011
582011
Genetic overlap between apparently sporadic motor neuron diseases
M Van Blitterswijk, L Vlam, MA van Es, WL van der Pol, EAM Hennekam, ...
PLoS One 7 (11), 2012
512012
The Lon protease is essential for full virulence in Pseudomonas aeruginosa
EBM Breidenstein, L Janot, J Strehmel, L Fernandez, PK Taylor, ...
PloS one 7 (11), 2012
492012
Autosomal‐recessive inheritance of benign recurrent intrahepatic cholestasis
TJ De Koning, LA Sandkuijl, JEAR De Schryver, EAM Hennekam, ...
American journal of medical genetics 57 (3), 479-482, 1995
391995
Increased paternal age and the influence on burden of genomic copy number variation in the general population
JE Buizer-Voskamp, HM Blauw, MPM Boks, KR van Eijk, JH Veldink, ...
Human genetics 132 (4), 443-450, 2013
312013
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ...
The Journal of clinical investigation 126 (8), 2881-2892, 2016
282016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ...
The Journal of clinical investigation 126 (8), 2881-2892, 2016
282016
Heterogeneity in the origin of recurrent complete hydatidiform moles: not all women with multiple molar pregnancies have biparental moles
R van der Smagt, J., Scheenjes, E., Kremer, J., Hennekam, F., Fisher
BJOG - An International Journal of Obstetrics and Gynaecology 113 (6), 725-728, 2006
222006
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia
JHF de Baaij, EM Dorresteijn, EAM Hennekam, EJ Kamsteeg, R Meijer, ...
Nephrology Dialysis Transplantation 30 (6), 952-957, 2015
202015
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder …
ET Hoorntje, IA Bollen, DQ Barge-Schaapveld, FH van Tienen, ...
Circulation: Cardiovascular Genetics 10 (4), e001631, 2017
192017
Familial clustering of schizophrenia, bipolar disorder, and major depressive disorder
MF Aukes, W Laan, F Termorshuizen, JE Buizer-Voskamp, ...
Genetics in medicine 14 (3), 338-341, 2012
182012
A novel pathogenic MLH1 missense mutation, c. 112A> C, p. Asn38His, in six families with Lynch syndrome
E van Riel, MGEM Ausems, FBL Hogervorst, I Kluijt, ME van Gijn, ...
Hereditary cancer in clinical practice 8 (1), 7, 2010
182010
Inflammatory pseudotumor associated with HIV, JCV, and immune reconstitution syndrome
A Gonzalez-Duarte, S Sullivan, GJ Sips, T Naidich, G Kleinman, J Murray, ...
Neurology 72 (3), 289-290, 2009
162009
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