Brunhilde Wirth

Brunhilde Wirth publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Brunhilde Wirth sits on this spectrum.

Brunhilde Wirth D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Brunhilde Wirth sits on this spectrum.

Overview

Best Publications

• A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

  Christian L. Lorson;Eric Hahnen;Elliot J. Androphy;Brunhilde Wirth

  1741
  Citations

• Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

  Markus Feldkötter;Verena Schwarzer;Radu Wirth;Thomas F. Wienker

  1146
  Citations

• An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

  Brunhilde Wirth

  774
  Citations

• SMN oligomerization defect correlates with spinal muscular atrophy severity.

  Christian L. Lorson;John Strasswimmer;Jun Mei Yao;James D. Baleja

  606
  Citations

• Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

  Gabriela E. Oprea;Sandra Kröber;Michelle L. McWhorter;Wilfried Rossoll

  595
  Citations

• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

  Richard S. Finkel;Eugenio Mercuri;Oscar H. Meyer;Anita K. Simonds

  589
  Citations

• Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

  L. Brichta;Y. Hofmann;E. Hahnen;F. A. Siebzehnrubl

  504
  Citations

• 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;M. Herz;A. Wetter;S. Moskau

  476
  Citations

• Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

  Matthew D Mailman;John W Heinz;Audrey C Papp;Pamela J Snyder

  418
  Citations

• Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

  Jutta Becker;Oliver Semler;Christian Gilissen;Yun Li

  397
  Citations

• Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

  Yvonne Hofmann;Christian L. Lorson;Stefan Stamm;Elliot J. Androphy

  394
  Citations

• Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

  B. Wirth;L. Brichta;B. Schrank;H. Lochmüller

  387
  Citations

• 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

  E Hahnen;R Forkert;C Marke;S Rudnik-Schöneborn

  346
  Citations

• Mapping of the Gene for Autosomal Recessive Polycystic Kidney-disease (arpkd) To Chromosome 6p21-cen

  K. Zerres;Yves Pirson;G. Mucher;L. Bachner

  298
  Citations

• A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

  Oliver Semler;Lutz Garbes;Katharina Keupp;Daniel Swan

  288
  Citations

• SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

  Markus Riessland;Bastian Ackermann;Anja Förster;Miriam Jakubik

  254
  Citations

• Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6

  Hans-Hermann Hoepken;Suzana Gispert;Blas Morales;Oliver Wingerter

  252
  Citations

• Congenital heart disease is a feature of severe infantile spinal muscular atrophy

  Sabine Rudnik-Schöneborn;Raoul Heller;Corinna Berg;Christopher Betzler

  247
  Citations

• hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1

  Yvonne Hofmann;Brunhilde Wirth

  240
  Citations

• Histone deacetylase inhibitors: possible implications for neurodegenerative disorders

  Eric Hahnen;Jan Hauke;Christian Tränkle;Ilker Y Eyüpoglu

  235
  Citations