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Biology and Biochemistry

D-Index
57
Citations
24633
World Ranking
13518
National Ranking
5733

Overview

Sonja W. Scholz is affiliated with the National Institutes of Health in the United States. Their research spans multiple disciplines within medicine and molecular biology, with a significant focus on neurology and genetics. Scholz has contributed extensively to the understanding of neurological diseases, particularly Parkinson's disease, and related genetic and molecular mechanisms.

Their work covers a variety of fields, including:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

Within these fields, Scholz specializes in the following subfields:

  • Neurology
  • Molecular Biology
  • Genetics
  • Cellular and Molecular Neuroscience
  • Physiology

Scholz's research topics focus on:

  • Parkinson's Disease Mechanisms and Treatments
  • Amyotrophic Lateral Sclerosis Research
  • Neurological diseases and metabolism
  • Genetic Neurodegenerative Diseases
  • Alzheimer's disease research and treatments
  • Bioinformatics and Genomic Networks
  • Neurological disorders and treatments

The scientist frequently publishes in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • JAMA Neurology
  • Movement Disorders
  • Alzheimer s & Dementia
  • Neurology

Scholz has collaborated extensively, with frequent coauthors including:

  • Bryan J. Traynor
  • J. Raphael Gibbs
  • Cornelis Blauwendraat
  • Clifton L. Dalgard
  • Ruth Chia

Notable recent publications by Scholz include:

  • "Challenges in the diagnosis of Parkinson's disease," 2021, published in The Lancet Neurology
  • "Detection of mosaic and population-level structural variants with Sniffles2," 2024, published in Nature Biotechnology
  • "A reference human induced pluripotent stem cell line for large-scale collaborative studies," 2022, published in Cell stem cell
  • "Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome," 2021, published in Nature Communications
  • "Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets," 2021, published in JAMA Neurology

Best Publications

  • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

    Alan E. Renton;Elisa Majounie;Adrian James Waite;Javier Simón-Sánchez;Javier Simón-Sánchez

  • Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

    Mike A Nalls;Cornelis Blauwendraat;Costanza L Vallerga;Karl Heilbron

  • Genome-wide association study reveals genetic risk underlying Parkinson's disease

    Javier Simón-Sánchez;Claudia Schulte;Jose M Bras;Jose M Bras;Manu Sharma

  • Challenges in the diagnosis of Parkinson's disease

    Eduardo Tolosa;Alicia Garrido;Sonja W Scholz;Werner Poewe

  • Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

    Janel O. Johnson;Jessica Mandrioli;Michael Benatar;Yevgeniya Abramzon

  • Genotype, haplotype and copy-number variation in worldwide human populations

    Mattias Jakobsson;Sonja W. Scholz;Sonja W. Scholz;Paul A Scheet;J. Raphael Gibbs;J. Raphael Gibbs

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • A genome-wide association study identifies protein quantitative trait loci (pQTLs).

    David Melzer;John R. B. Perry;Dena Hernandez;Anna-Maria Corsi

  • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

    Hon-Chung Fung;Hon-Chung Fung;Hon-Chung Fung;Sonja Scholz;Mar Matarin;Javier Simón-Sánchez;Javier Simón-Sánchez

  • Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

    Ruth Chia;Marya S. Sabir;Sara Bandres-Ciga

  • Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

    Cornelis Blauwendraat;Karl Heilbron;Costanza L. Vallerga;Sara Bandres-Ciga

  • SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy

    Sonja W. Scholz;Sonja W. Scholz;Henry Houlden;Claudia Schulte;Manu Sharma

  • Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

    Joyce Van De Leemput;Jayanth Chandran;Jayanth Chandran;Melanie A. Knight;Lynne A. Holtzclaw

  • Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

    Hannu Laaksovirta;Terhi Peuralinna;Jennifer C Schymick;Sonja W Scholz;Sonja W Scholz

  • Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

    Rita Guerreiro;Rita Guerreiro;Owen A Ross;Celia Kun-Rodrigues;Dena G Hernandez;Dena G Hernandez

  • Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

    Jennifer C. Schymick;Jennifer C. Schymick;Sonja W. Scholz;Sonja W. Scholz;Hon Chung Fung;Hon Chung Fung;Angela Britton

  • DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

    Sarah Camargos;Sarah Camargos;Sonja Scholz;Javier Simón-Sánchez;Coro Paisán-Ruiz

  • Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

    Javier Simon-Sanchez;Sonja Scholz;Hon-Chung Fung;Hon-Chung Fung;Mar Matarin

  • A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

    Mar Matarín;W. Mark Brown;Sonja Scholz;Javier Simón-Sánchez;Javier Simón-Sánchez

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

Frequent Co-Authors

Andrew B. Singleton
Andrew B. Singleton National Institutes of Health
Dena G. Hernandez
Dena G. Hernandez National Institutes of Health
J. Raphael Gibbs
J. Raphael Gibbs National Institutes of Health
John Hardy
John Hardy University College London
Javier Simón-Sánchez
Javier Simón-Sánchez University of Tübingen
Bryan J. Traynor
Bryan J. Traynor National Institutes of Health
Mike A. Nalls
Mike A. Nalls National Institutes of Health
Ziv Gan-Or
Ziv Gan-Or McGill University
Pentti J. Tienari
Pentti J. Tienari University of Helsinki
Jose Bras
Jose Bras Van Andel Institute

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