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 | 108 | 2017 |
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 | 89 | 2020 |
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 | 68 | 2021 |
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 | 49 | 2015 |
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 | 35 | 2019 |
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 | 29 | 2014 |
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 | 27 | 2014 |
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 | 16 | 2017 |
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 | 15 | 2017 |
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 | 11 | 2022 |
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 | 9 | 2017 |
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 | 8 | 2020 |
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 | 6 | 2020 |
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 | 6 | 2018 |
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 | 6 | 2017 |
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 | 2 | 2022 |
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 |