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Julia Hentschel
Julia Hentschel
University Hospital Leipzig
Verified email at medizin.uni-leipzig.de - Homepage
Title
Cited by
Cited by
Year
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ...
Human mutation 39 (5), 593-620, 2018
3092018
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
1912016
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
1842019
Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary …
J Hauke, J Horvath, E Groß, A Gehrig, E Honisch, K Hackmann, ...
Cancer medicine 7 (4), 1349-1358, 2018
1712018
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
S Li, V Silvestri, G Leslie, TR Rebbeck, SL Neuhausen, JL Hopper, ...
Journal of Clinical Oncology 40 (14), 1529-1541, 2022
1652022
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, ...
Genetics in Medicine 22 (10), 1653-1666, 2020
1082020
Sinonasal persistence of Pseudomonas aeruginosa after lung transplantation
JG Mainz, J Hentschel, C Schien, N Cramer, W Pfister, JF Beck, ...
Journal of Cystic Fibrosis 11 (2), 158-161, 2012
782012
Intestinal current measurements detect activation of mutant CFTR in patients with cystic fibrosis with the G551D mutation treated with ivacaftor
SY Graeber, MJ Hug, O Sommerburg, S Hirtz, J Hentschel, A Heinzmann, ...
American journal of respiratory and critical care medicine 192 (10), 1252-1255, 2015
692015
Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function
N Terliesner, M Vogel, A Steighardt, R Gausche, C Henn, J Hentschel, ...
Journal of Pediatric Endocrinology and Metabolism 30 (8), 815-821, 2017
682017
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
I Ottlewski, J Münch, T Wagner, R Schönauer, A Bachmann, A Weimann, ...
Kidney international 96 (1), 222-230, 2019
622019
Influences of nasal lavage collection-, processing-and storage methods on inflammatory markers—evaluation of a method for non-invasive sampling of epithelial lining fluid in …
J Hentschel, U Müller, F Doht, N Fischer, K Böer, J Sonnemann, C Hipler, ...
Journal of immunological methods 404, 41-51, 2014
592014
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
KL Helbig, UBS Hedrich, DN Shinde, I Krey, AC Teichmann, J Hentschel, ...
Annals of neurology 80 (4), 2016
532016
Rad54B targeting to DNA double-strand break repair sites requires complex formation with S100A11
U Murzik, P Hemmerich, S Weidtkamp-Peters, T Ulbricht, W Bussen, ...
Molecular biology of the cell 19 (7), 2926-2935, 2008
532008
Parental mosaicism in epilepsies due to alleged de novo variants
RS Møller, N Liebmann, LHG Larsen, M Stiller, J Hentschel, N Kako, ...
Epilepsia 60 (6), e63-e66, 2019
492019
Sino nasal inhalation of isotonic versus hypertonic saline (6.0%) in CF patients with chronic rhinosinusitis—results of a multicenter, prospective, randomized, double-blind …
JG Mainz, U Schumacher, K Schädlich, J Hentschel, C Koitschev, ...
Journal of Cystic Fibrosis 15 (6), e57-e66, 2016
482016
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ...
Genetics in Medicine 23 (8), 1492-1497, 2021
402021
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers
J Borde, C Ernst, B Wappenschmidt, D Niederacher, K Weber-Lassalle, ...
JNCI: Journal of the National Cancer Institute 113 (7), 893-899, 2021
352021
BCR-ABL-and Ras-independent activation of Raf as a novel mechanism of Imatinib resistance in CML
J Hentschel, I Rubio, M Eberhart, C Hipler, J Schiefner, K Schubert, ...
International journal of oncology 39 (3), 585-591, 2011
352011
Non‐invasive assessment of upper and lower airway infection and inflammation in CF patients
N Fischer, J Hentschel, UR Markert, PM Keller, MW Pletz, JG Mainz
Pediatric Pulmonology 49 (11), 1065-1075, 2014
342014
Reduced nasal nitric oxide production in cystic fibrosis patients with elevated systemic inflammation markers
RK Michl, J Hentschel, C Fischer, JF Beck, JG Mainz
PLoS One 8 (11), e79141, 2013
322013
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