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Centogene (Germany) | Researchclopedia

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Centogene (Germany)

Rostockcompany

608

Works

37,223

Citations

83

h-index

Top Research Topics

Lysosomal Storage Disorders Research Genomics and Rare Diseases Cellular transport and secretion

Top Researchers

Anthony James NHS England

976 works67,037 citationsh-index: 120

Recent Research

Lack of Cerebrospinal Fluid α‐Synuclein Seeding in <scp> <i>VPS35</i> D620N </scp> ‐ and <scp> <i>LRRK2</i> Y1699C </scp> ‐Linked Parkinson's Disease

Letizia Santinelli,Neringa Pratuseviciute,et al.

20260 citations

Genetics and Neurodevelopmental Disorders

Parkinson's Disease Mechanisms and Treatments

Genomic variations and chromosomal abnormalities

RNA modifications and cancer

Mitochondrial Function and Pathology

RNA regulation and disease

Metabolism and Genetic Disorders

Hereditary Neurological Disorders

Neurological diseases and metabolism

Christine Klein Brigham Young University

1,212 works50,702 citationsh-index: 104

Mina Ryten Johns Hopkins University

330 works30,280 citationsh-index: 72

Peter Bauer Medical University of Graz

479 works21,522 citationsh-index: 65

Tamás Forster University of Szeged

387 works18,857 citationsh-index: 33

Alberto Verrotti University of Perugia

708 works18,047 citationsh-index: 66

The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

Leah V. Chifamba,Sitki Cem Parlar,et al.

20260 citations

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace,Carlos González,et al.

20260 citations

From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2

Célia Hoebeke,Camille Engel,et al.

20260 citations

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Vincent D. Ustach,Maria J. Guillen Sacoto,et al.

20260 citations

Reply to: “Unravelling the Complexity of <scp> <i>VPS16</i> </scp> Splicing: Clinical Implications and Unresolved Questions”

Ana Westenberger,Edgard Verdura,et al.

20260 citations