Johanna C. Herkert (Anne)
Johanna C. Herkert (Anne)
Clinical Geneticist, PhD student University Medical Center Groningen, Netherlands
Geverifieerd e-mailadres voor umcg.nl - Homepage
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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
942013
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
812012
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
682015
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
652015
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
642011
Rapid targeted genomics in critically ill newborns
CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ...
Pediatrics 140 (4), 2017
632017
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), 1-13, 2019
582019
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
572015
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
532015
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
502019
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
502013
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
462016
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
412013
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
392010
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
362017
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
292018
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
282013
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
262017
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
RP Stulp, JC Herkert, A Karrenbeld, B Mol, YJ Vos, RH Sijmons
Hereditary cancer in clinical practice 6 (1), 1-7, 2008
262008
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
WMR van den Akker, I Brummelman, LM Martis, RN Timmermans, ...
Clinical genetics 93 (5), 1000-1007, 2018
142018
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Artikelen 1–20