Sabine Rudnik‐Schöneborn

Innsbruck Medical University

Publishes on Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery. 570 papers and 11.2k citations.

570Publications

11.2kTotal Citations

Neurogenetic and Muscular Disorders Research RNA modifications and cancer Congenital Anomalies and Fetal Surgery Genetic and Kidney Cyst Diseases Genetic Neurodegenerative Diseases

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Top publicationsby 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 et al.|The American Journal of Human Genetics|2002

Cited by 509Open Access

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 et al.|The American Journal of Human Genetics|1999

Cited by 363Open Access

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Ellen Windelen et al.|Kidney International|2005

Cited by 345Open Access

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 et al.|Nature Genetics|2001

Cited by 344

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 et al.|Journal of the Neurological Sciences|1997

Cited by 289