| 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 | 404 | 2012 |
| 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), 1272-1274, 2009 | 358 | 2009 |
| 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 | 253 | 2012 |
| 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 | 212 | 2011 |
| 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 | 146 | 2016 |
| 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 | 115 | 2011 |
| 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 | 109 | 2009 |
| 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 | 86 | 2011 |
| 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 | 85 | 2016 |
| 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 | 85 | 2016 |
| 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), e48983, 2012 | 79 | 2012 |
| 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 | 56 | 2015 |
| 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 | 44 | 2017 |
| 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 | 43 | 1995 |
| 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, 443-450, 2013 | 40 | 2013 |
| 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, 1-9, 2010 | 28 | 2010 |
| 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 | 27 | 2012 |
| 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 | 26 | 2006 |
| The first titin (c. 59926+ 1G> A) founder mutation associated with dilated cardiomyopathy ET Hoorntje, KY van Spaendonck‐Zwarts, WP Te Rijdt, L Boven, A Vink, ... European journal of heart failure 20 (4), 803, 2018 | 21 | 2018 |
| PULMONARY FIBROSIS AND A TERT FOUNDER MUTATION WITH A LATENCY PERIOD OF 300 YEARS JJ van der Vis, JJ van der Smagt, FAM Hennekam, JC Grutters, ... Chest 158 (2), 612-619, 2020 | 20 | 2020 |
Roel A. OphoffProfessor of Psychiatry and Human Genetics, University of California Los AngelesVerified email at ucla.edu
