Sabine Rudnik‐Schöneborn

Author

Also Known As

J Senderek, J. Zschocke, S Rudnik-Schöneborn, S Rudnik‐Schöneborn, S. RUDNIK-SCHONEBORN, S. Rudnik-Schoneborn, S. Rudnik-Schöneborn, S. Rudnik-Schöneborn, S. Rudnik‐Schöneborn, Sabine Rudnik-Schoneborn

570

Publications

11.1K

Citations

H-Index

169

Concepts

All Affiliations

RWTH Aachen University University of Bonn Innsbruck Medical University Ludwig-Maximilians-Universität München Institute of Human Genetics

About

Sabine Rudnik‐Schöneborn is an author at RWTH Aachen University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	63	5.4K
2	Health Sciences	7	7	304
3	Natural Sciences	2	2	28
4	Education	1	1	29
5	Law	1	1	26

Sabine Rudnik‐Schöneborn

122

Publications

9.2K

Citations

H-Index

Page 1

	Year	Citations
PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, The American Journal of Human Genetics Signaling PathwayAutoimmune DiseaseDisease MechanismKidney ResearchLiver Physiology	2002	506
Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling Brunhilde Wirth, Micaela A. Godoy Herz, A Wetter, The American Journal of Human Genetics Rare DiseasesGenetic DisorderGeneticsNeuromotor DisordersGenetic Epidemiology	1999	361
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 Katja Grohmann, Markus Schuelke, Alexander Diers, Nature Genetics Transcriptional RegulationImmunogeneticsAutoimmune DiseaseDisease PathophysiologyMedicine	2001	341
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Carsten Bergmann, Jan Senderek, Ellen Windelen, Kidney International Pkhd1 MutationsUrologyRenal DiseaseMendelian DisorderGenetic Disorder	2005	341
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals Eric Hahnen, Randolf Forkert, Christine Marke, Human Molecular Genetics	1995	286
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients Klaus Zerres, Sabine Rudnik‐Schöneborn, Eric Forrest, Journal of the Neurological Sciences Neuromusculoskeletal DisorderSpinal DisorderNatural HistoryPediatricsCollaborative Study	1997	282
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen Klaus Zerres, Gabi Mücher, L Bachner, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsRenal Pathology	1994	258
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Nature Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics	2012	257
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Jan Senderek, Michael J. B. Krieger, Claudia Stendel, Nature Genetics Mendelian DisorderOphthalmologyGenetic DisorderGeneticsPathology	2005	248
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy Jan Senderek, Carsten Bergmann, Claudia Stendel, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceMendelian DisorderGenetic DisorderGenetics	2003	210

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