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B. Steiner · SciRah

Researcher profile · Semantic Scholar

B. Steiner

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B. Steiner — researcher profile on SciRah

h-index: 20
Works: 42
Citations: 1,372

Most-cited papers

Legionella pneumophila Modulates Mitochondrial Dynamics to Trigger Metabolic Repurposing of Infected Macrophages.
Pedro Escoll, Ok-Ryul Song, Flávia Viana, B. Steiner +6 more
2017Cell Host and Microbe226 citations Open access
Semantic Scholar
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
J. Johnston, Julie C. Sapp, Joyce T. Turner, D. Amor +49 more
2010Human Mutation129 citations Open access
Semantic Scholar
Formation of the Legionella-containing vacuole: phosphoinositide conversion, GTPase modulation and ER dynamics.
B. Steiner, S. Weber, H. Hilbi
2017International Journal of Medical Microbiology92 citations Open access
Semantic Scholar
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
A. Schossig, N. Wolf, C. Fischer, Maria Fischer +19 more
2012American Journal of Human Genetics79 citations Open access
Semantic Scholar
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Ricky S. Joshi, Paras Garg, N. Zaitlen, T. Lappalainen +29 more
2016American Journal of Human Genetics75 citations Open access
Semantic Scholar
ER remodeling by the large GTPase atlastin promotes vacuolar growth of Legionella pneumophila
B. Steiner, A. L. Swart, A. Welin, S. Weber +6 more
2017EMBO Reports56 citations Open access
Semantic Scholar
The role of common single‐nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles
B. Steiner, K. Truninger, J. Sanz, A. Schaller +1 more
2004Human Mutation56 citations Open access
Semantic Scholar
Rapid identification of female carriers of DMD/BMD by quantitative real‐time PCR
F. Joncourt, B. Neuhaus, Kristin Jostarndt-Foegen, S. Kleinle +2 more
2004Human Mutation56 citations Open access
Semantic Scholar
Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5
K. Bärlocher, C. Hutter, A. L. Swart, B. Steiner +5 more
2017Nature Communications51 citations Open access
Semantic Scholar
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
S. Unger, D. Böhm, F. Kaiser, S. Kaulfuss +17 more
2008Nature Genetics50 citations Open access
Semantic Scholar
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
A. Sharp, E. Migliavacca, Y. Dupré, E. Stathaki +10 more
2010Genome Research47 citations Open access
Semantic Scholar
Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.
A. Ramalho, S. Beck, C. Farinha, L. Clarke +7 more
2004Journal of Cystic Fibrosis46 citations Open access
Semantic Scholar
Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
May-Britt Harmsen, S. Azzarello-Burri, M. G. González, G. Gillessen-kaesbach +10 more
2009European Journal of Human Genetics45 citations Open access
Semantic Scholar
Comparative Proteomics of Purified Pathogen Vacuoles Correlates Intracellular Replication of Legionella pneumophila with the Small GTPase Ras-related protein 1 (Rap1) *
Johanna Schmölders, C. Manske, A. Otto, C. Hoffmann +4 more
2017Molecular & Cellular Proteomics44 citations Open access
Semantic Scholar
The male phenotype in osteopathia striata congenita with cranial sclerosis
Sarah K. Holman, P. Daniel, Za Jenkins, Rachel L. Herron +21 more
2011American Journal of Medical Genetics. Part A39 citations Open access
Semantic Scholar
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
Janine Meienberg, M. Rohrbach, S. Neuenschwander, K. Spanaus +12 more
2010European Journal of Human Genetics35 citations Open access
Semantic Scholar
Legionella-Containing Vacuoles Capture PtdIns(4)P-Rich Vesicles Derived from the Golgi Apparatus
S. Weber, B. Steiner, A. Welin, H. Hilbi
2018mBio34 citations Open access
Semantic Scholar
The Polar Legionella Icm/Dot T4SS Establishes Distinct Contact Sites with the Pathogen Vacuole Membrane
Désirée Böck, Dario Hüsler, B. Steiner, J. M. Medeiros +5 more
2021mBio30 citations Open access
Semantic Scholar
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
B. Steiner, J. Rosendahl, H. Witt, N. Teich +19 more
2011Human Mutation28 citations Open access
Semantic Scholar
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies
B. Steiner, Rahim Masood, K. Rufibach, D. Niedrist +3 more
2014European Journal of Human Genetics26 citations Open access
Semantic Scholar
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
R. Makarov, B. Steiner, Z. Gucev, V. Tasic +2 more
2010BMC Medical Genetics19 citations Open access
Semantic Scholar
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
D. Bartholdi, S. Toelle, B. Steiner, E. Boltshauser +2 more
2008European Journal of Medical Genetics18 citations Open access
Semantic Scholar
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
M. Amaral, L. Clarke, A. Ramalho, S. Beck +15 more
2004Journal of Cystic Fibrosis17 citations Open access
Semantic Scholar
Amoebae-Based Screening Reveals a Novel Family of Compounds Restricting Intracellular Legionella pneumophila.
Christopher F. Harrison, Gianpaolo Chiriano, Ivo Finsel, C. Manske +10 more
2015ACS Infectious Diseases15 citations Open access
Semantic Scholar
Dictyostelium lacking the single atlastin homolog Sey1 shows aberrant ER architecture, proteolytic processes and expansion of the Legionella‐containing vacuole
Dario Hüsler, B. Steiner, A. Welin, Bianca Striednig +4 more
2021Cellular Microbiology14 citations Open access
Semantic Scholar
Divergent Evolution of Legionella RCC1 Repeat Effectors Defines the Range of Ran GTPase Cycle Targets
A. L. Swart, B. Steiner, L. Gomez-Valero, Sabina Schütz +8 more
2020mBio12 citations Open access
Semantic Scholar
Analysis of genomic CFTR DNA.
C. Férec, C. Le Maréchal, M. Audrézet, C. Farinha +7 more
2004Journal of Cystic Fibrosis11 citations Open access
Semantic Scholar
Gender Modulates the Expression of Calcium-Regulating Proteins in Pediatric Atrial Myocardium
M. Pavlovic, A. Schaller, B. Steiner, P. Berdat +4 more
2005Experimental biology and medicine8 citations
Semantic Scholar
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
J. Sanz, Thomas von Känel, M. Schneider, B. Steiner +2 more
2010European Journal of Human Genetics7 citations Open access
Semantic Scholar
The large GTPase atlastin controls ER remodeling around a pathogen vacuole
B. Steiner, S. Weber, A. Kaech, U. Ziegler +1 more
2018Communicative & Integrative Biology6 citations Open access
Semantic Scholar
Perturbation of Legionella Cell Infection by RNA Interference.
B. Steiner, A. L. Swart, H. Hilbi
2019Methods in molecular biology2 citations
Semantic Scholar
ER remodeling by the large GTPase atlastin promotes vacuole expansion and intracellular growth of the bacterial pathogen Legionella pneumophila
B. Steiner
20170 citations
Semantic Scholar
identifies novel differentially methylated regions on chromosome Methylation profiling in individuals with uniparental disomy Material Supplemental
A. Sharp, E. Migliavacca, Y. Dupré, E. Stathaki +10 more
20170 citations
Semantic Scholar
Legionella pneumophila RidL N-terminal retromer binding domain
K. Baerlocher, C. Hutter, A. L. Swart, B. Steiner +5 more
20170 citations
Semantic Scholar
Legionella pneumophila RidL N-terminal domain lacking beta hairpin
K. Baerlocher, C. Hutter, A. L. Swart, B. Steiner +5 more
20170 citations
Semantic Scholar
Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5
K. Bärlocher, C. Hutter, A. L. Swart, B. Steiner +5 more
2017Nature Communications0 citations Open access
Semantic Scholar
AJHG The American Journal of Human Genetics DNA methylation profiling of uniparental disomy cases provides a map of parental epigenetic bias in the human genome
Charles E. Schwartz, B. Steiner, U. Surti
20160 citations
Semantic Scholar
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
B. Steiner, J. Rosendahl, H. Witt, N. Teich +19 more
20120 citations
Semantic Scholar
TheMalePhenotypeinOsteopathiaStriataCongenita With Cranial Sclerosis
A. Bohring, A. Mosel, D. Lacombe, B. Steiner +5 more
20110 citations
Semantic Scholar
Genome-wide identification of new differentially methylated regions associated with imprinted genes
C. Borel, F. Cheung, A. Guilmatre, B. Steiner +10 more
20110 citations
Semantic Scholar
Medizinische Genetik: Geld, Geist und Gene
B. Steiner, D. Bartholdi
20100 citations Open access
Semantic Scholar
Génétique médicale: gènes, science, financement
B. Steiner, D. Bartholdi
20100 citations Open access
Semantic Scholar

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