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Gudrun A. Rappold

Gudrun A. Rappold

D-Index & Metrics

Genetics

D-Index
76
Citations
22266
World Ranking
1822
National Ranking
135

Overview

Gudrun A. Rappold is affiliated with Heidelberg University in Germany and has a research portfolio spanning biochemistry, genetics, molecular biology, and medicine. Their work focuses on several intersecting domains within molecular biology and neurology, including neurodegeneration, genetic disorders, and immune responses.

The scientist's main fields of study comprise Biochemistry, Genetics and Molecular Biology with 45 publications, and Medicine with 38 publications. Subfields of particular note include Molecular Biology (23 publications), Genetics (19), Neurology (9), Immunology (6), and Surgery (6).

Rappold's research covers topics such as Parkinson's Disease mechanisms and treatments, genetics and neurodevelopmental disorders, autism spectrum disorder research, interferon and immune responses, CRISPR and genetic engineering, neuroinflammation and neurodegeneration mechanisms, and issues related to race, genetics, and society.

Their recent papers reflect a focus on neurological disorders and genetic underpinnings of disease. Key publications include:

  • "Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome" (2022) in Proceedings of the National Academy of Sciences
  • "Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity" (2020) in Scientific Reports
  • "Europe's Roma people are vulnerable to poor practice in genetics" (2021) in Nature
  • "Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder" (2020) in Molecular Psychiatry
  • "Parkinson mice show functional and molecular changes in the gut long before motoric disease onset" (2021) in Molecular Neurodegeneration

Frequently publishing in venues such as Molecular Psychiatry, Scientific Reports, Genes, Frontiers in Endocrinology, and bioRxiv (Cold Spring Harbor Laboratory), Rappold contributes to leading journals in neurobiology and molecular genetics.

Collaboration is evident with frequent co-authors including Beate Niesler, Ralph Röth, Stefanie Schmitteckert, Ralph Roeth, and Sandra Hoffmann, reflecting a network of researchers with complementary expertise.

Best Publications

  • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

    Ercole Rao;Birgit Weiss;Maki Fukami;Maki Fukami;Andreas Rump

  • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

    Anita Rauch;Dagmar Wieczorek;Elisabeth Graf;Thomas Wieland

  • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Claire S. Leblond;Caroline Nava;Anne Polge;Julie Gauthier

  • Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

    Simone Berkel;Christian R Marshall;Birgit Weiss;Jennifer L Howe

  • Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

    Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  • The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

    Mark Clement-Jones;Simone Schiller;Ercole Rao;Rüdiger J. Blaschke

  • Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter.

    Dirk Gründemann;Birgit Schechinger;Gudrun Rappold;Edgar Schömig

  • Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

    Howard J. Cooke;William R. A. Brown;Gudrun A. Rappold

  • SHANK1 Deletions in Males with Autism Spectrum Disorder

    Daisuke Sato;Anath C. Lionel;Anath C. Lionel;Claire S. Leblond;Claire S. Leblond;Claire S. Leblond;Aparna Prasad

  • Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

    Claudia Schaffner;Stephan Stilgenbauer;Gudrun A. Rappold;Hartmut Döhner

  • Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

    Gudrun Rappold;Werner F Blum;Elena P Shavrikova;Brenda J Crowe

  • A CLUSTER OF SULFATASE GENES ON XP22.3 : MUTATIONS IN CHONDRODYSPLASIA PUNCTATA (CDPX) AND IMPLICATIONS FOR WARFARIN EMBRYOPATHY

    Brunella Franco;Germana Meroni;Giancarlo Parenti;Jacqueline Levilliers

  • Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

    Gudrun A. Rappold;Maki Fukami;Beate Niesler;Simone Schiller

  • Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

    Juliane Hoyer;Arif B. Ekici;Sabine Endele;Bernt Popp

  • Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E.

    Beate Niesler;Bernd Frank;Johannes Kapeller;Gudrun A Rappold

  • Targeted Mutation Reveals Essential Functions of the Homeodomain Transcription Factor Shox2 in Sinoatrial and Pacemaking Development

    Rüdiger J. Blaschke;Nathan D. Hahurij;Sanne Kuijper;Steffen Just

  • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

    J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  • The pseudoautosomal regions of the human sex chromosomes.

    Gudrun A. Rappold

  • First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome

    Johannes Kapeller;Lesley A. Houghton;Hubert Mönnikes;Jutta Walstab

  • The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

    Volker Endris;Birgit Wogatzky;Uwe Leimer;Dusan Bartsch

Frequent Co-Authors

Tsutomu Ogata
Tsutomu Ogata Hamamatsu University
Markus M. Nöthen
Markus M. Nöthen University Hospital Bonn
Werner F. Blum
Werner F. Blum University of Giessen
Jan M. Wit
Jan M. Wit Leiden University Medical Center
Andrea Ballabio
Andrea Ballabio Baylor College of Medicine
Marcel Karperien
Marcel Karperien University of Twente
Mauro D'Amato
Mauro D'Amato Ikerbasque
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Emeran A. Mayer
Emeran A. Mayer University of California, Los Angeles
Marcella Rietschel
Marcella Rietschel Heidelberg University

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