| Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis P Deelen, S van Dam, JC Herkert, JM Karjalainen, H Brugge, KM Abbott, ... Nature communications 10 (1), 2837, 2019 | 127 | 2019 |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine 21 (6), 1295-1307, 2019 | 124 | 2019 |
| Rapid targeted genomics in critically ill newborns CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ... Pediatrics 140 (4), 2017 | 119 | 2017 |
| Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions BA Thompson, MS Greenblatt, MP Vallee, JC Herkert, C Tessereau, ... Human mutation 34 (1), 255-265, 2013 | 115 | 2013 |
| Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects MW Wessels, JC Herkert, IM Frohn-Mulder, M Dalinghaus, ... European Journal of Human Genetics 23 (7), 922-928, 2015 | 96 | 2015 |
| Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics NM Hanemaaijer, B Sikkema-Raddatz, G Van Der Vries, T Dijkhuizen, ... European journal of human genetics 20 (2), 161-165, 2012 | 91 | 2012 |
| Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy R Almomani, JMA Verhagen, JC Herkert, E Brosens, ... Journal of the American College of Cardiology 67 (5), 515-525, 2016 | 89 | 2016 |
| De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment M Hempel, K Cremer, CW Ockeloen, KD Lichtenbelt, JC Herkert, ... The American Journal of Human Genetics 97 (3), 493-500, 2015 | 87 | 2015 |
| Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome SM Maas, AC Shaw, H Bikker, HJ Lüdecke, K van der Tuin, ... European journal of medical genetics 58 (5), 279-292, 2015 | 86 | 2015 |
| A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related … PA Terhal, RJAJ Nievelstein, EJJ Verver, V Topsakal, P van Dommelen, ... American journal of medical genetics Part A 167 (3), 461-475, 2015 | 85 | 2015 |
| Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines JC Herkert, RC Niessen, MJW Olderode-Berends, HE Veenstra-Knol, ... European Journal of Cancer 47 (7), 965-982, 2011 | 72 | 2011 |
| De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome S Jansen, S Geuer, R Pfundt, R Brough, P Ghongane, JC Herkert, ... The American Journal of Human Genetics 100 (4), 650-658, 2017 | 63 | 2017 |
| Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy JD Roberts, JC Herkert, J Rutberg, SM Nikkel, ACP Wiesfeld, D Dooijes, ... Clinical genetics 83 (5), 452-456, 2013 | 52 | 2013 |
| Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy JC Herkert, KM Abbott, E Birnie, MT Meems-Veldhuis, LG Boven, ... Genetics in Medicine 20 (11), 1374-1386, 2018 | 51 | 2018 |
| Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort K Mc Intyre, P Lanting, P Deelen, HH Wiersma, JM Vonk, APS Ori, ... BMJ open 11 (3), e044474, 2021 | 50 | 2021 |
| De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic … A Slavotinek, M Risolino, M Losa, MT Cho, KG Monaghan, ... Human molecular genetics 26 (24), 4849-4860, 2017 | 49 | 2017 |
| Clinical utility gene card for: dilated cardiomyopathy (CMD) A Posafalvi, JC Herkert, RJ Sinke, MP Van Den Berg, J Mogensen, ... European Journal of Human Genetics 21 (10), 1185-1185, 2013 | 49 | 2013 |
| The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes ADC Paulussen, CT Schrander-Stumpel, DCJ Tserpelis, MKM Spee, ... European Journal of Human Genetics 18 (9), 999-1005, 2010 | 43 | 2010 |
| Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients ST De Bot, RC Burggraaff, JC Herkert, HJ Schelhaas, B Post, A Diekstra, ... European Journal of Human Genetics 21 (11), 1312-1315, 2013 | 35 | 2013 |
| Expanding the clinical and genetic spectrum of ALPK3 variants: phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants JC Herkert, JMA Verhagen, R Yotti, A Haghighi, DG Phelan, PA James, ... American Heart Journal 225, 108-119, 2020 | 32 | 2020 |
J.D.H. JongbloedPrincipal Investigator, clinical laboratoy geneticist, Department of Genetics, University Medical Center Groningen, University o在 umcg.nl 的电子邮件经过验证
