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Ronja Hollstein
Ronja Hollstein
University Hospital Bonn
在 uni-bonn.de 的电子邮件经过验证
标题
引用次数
引用次数
年份
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus
T Kessler, J Wobst, B Wolf, J Eckhold, B Vilne, R Hollstein, S Von Ameln, ...
Circulation 136 (5), 476-489, 2017
1082017
LAMP-Seq: population-scale COVID-19 diagnostics using combinatorial barcoding
JL Schmid-Burgk, RM Schmithausen, D Li, R Hollstein, A Ben-Shmuel, ...
biorxiv, 2020.04. 06.025635, 2020
892020
LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding
KU Ludwig, RM Schmithausen, D Li, ML Jacobs, R Hollstein, ...
Nature biotechnology 39 (12), 1556-1562, 2021
682021
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
R Hollstein, DA Parry, L Nalbach, CV Logan, TM Strom, VL Hartill, IM Carr, ...
Journal of medical genetics 52 (12), 797-803, 2015
492015
HACE1 deficiency leads to structural and functional neurodevelopmental defects
V Nagy, R Hollstein, TP Pai, MK Herde, P Buphamalai, P Moeseneder, ...
Neurology: Genetics 5 (3), e330, 2019
352019
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression
K Bürk, FJ Kaiser, S Tennstedt, L Schöls, FR Kreuz, T Wieland, TM Strom, ...
European journal of medical genetics 57 (5), 207-211, 2014
292014
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression
A Erogullari, R Hollstein, P Seibler, D Braunholz, E Koschmidder, ...
Biochimica et Biophysica Acta (BBA)-Gene Regulatory Mechanisms 1839 (11 …, 2014
272014
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression
R Hollstein, B Reiz, L Kötter, A Richter, S Schaake, K Lohmann, FJ Kaiser
Human molecular genetics 26 (15), 2975-2983, 2017
162017
In-depth characterization of the homodimerization domain of the transcription factor THAP1 and dystonia-causing mutations therein
A Richter, R Hollstein, E Hebert, F Vulinovic, J Eckhold, A Osmanovic, ...
Journal of Molecular Neuroscience 62, 11-16, 2017
152017
MiRNA-149 as a candidate for facial clefting and neural crest cell migration
LG Stüssel, R Hollstein, M Laugsch, LM Hochfeld, J Welzenbach, ...
Journal of dental research 101 (3), 323-330, 2022
112022
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome
J Schmidt, R Hollstein, FJ Kaiser, G Gillessen‐Kaesbach
American Journal of Medical Genetics Part A 173 (5), 1400-1405, 2017
92017
LAMP-Seq: population-scale COVID-19 diagnostics using combinatorial barcoding. bioRxiv. 2020.04. 06.025635
JL Schmid-Burgk, RM Schmithausen, D Li, R Hollstein, A Ben-Shmuel, ...
Preprint] 8, 2020
82020
LAMp-seq: population-scale COVID-19 diagnostics using combinatorial barcoding. bioRxiv
JL Schmid-Burgk, RM Schmithausen, D Li, R Hollstein, A Ben-Shmuel, ...
Posted online June 8, 2020
62020
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2
A Balck, S Tunc, J Schmitz, R Hollstein, FJ Kaiser, N Brüggemann
The Cerebellum 17, 504-506, 2018
62018
Ameln von S
T Kessler, J Wobst, B Wolf, J Eckhold, B Vilne, R Hollstein
Dang TA, Sager HB, Rumpf PM, Aherrahrou R, Kastrati A, Bjoerkegren JLM …, 2017
62017
Allele-specific transcription factor binding in a cellular model of orofacial clefting
KLM Ruff, R Hollstein, J Fazaal, F Thieme, J Gehlen, E Mangold, M Knapp, ...
Scientific Reports 12 (1), 1807, 2022
22022
EZH2 specifically regulates ISL1 during embryonic urinary tract formation
E Mingardo, JC Kalanithy, G Dworschak, N Ishorst, Ö Yilmaz, ...
Scientific Reports 14 (1), 22909, 2024
2024
Saturation mutagenesis data facilitate the interpretation of noncoding variants in the IRF6 enhancer associated with nonsyndromic cleft-lip w/o cleft palate
R Hollstein, F Thieme, F Lauber, A Biedermann, J Fazaal, M Schubach, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 45-45, 2024
2024
What is the continuing education situation for natural scientists in human genetics in Germany, and how do we achieve state recognition of further training to become a human …
R Hollstein, N Ishorst, A Lischka, L Sindermann, YL Behrens
MEDIZINISCHE GENETIK 35 (4), 339-350, 2023
2023
Wie ist die Weiterbildungssituation der NaturwissenschaftlerInnen in der Humangenetik in Deutschland, und wie erreichen wir eine staatliche Anerkennung der Weiterbildung zur …
YL Behrens, R Hollstein, N Ishorst, A Lischka, L Sindermann
Medizinische Genetik 35 (4), 339-350, 2023
2023
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