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Author

Emir Zonic

Institution: Centogene (Germany)
Observed institution: Centogene (Germany)
ORCID: 0009-0000-9904-3104
Observed ORCID: 0009-0000-9904-3104
OpenAlex ID: A5092831958
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia
2023 · Luba M. Pardo, Ruxandra Aanicai, et al. · Clinical Genetics · 6
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
2026 · Raffaella De Pace, Carlos A. Dominguez Gonzalez, et al. · The American Journal of Human Genetics · 5
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
2025 · Natalia Juliá-Palacios, Gerard Muñoz-Pujol, et al. · Brain Communications · 4
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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
2023 · Emir Zonic, Mariana Ferreira, et al. · Genetics in Medicine Open · 4
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Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
2025 · Sophie Scheidecker, Séverine Bär, et al. · European Journal of Human Genetics · 3
Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
2025 · Luba M. Pardo, Javier Martini, et al. · Clinical Genetics · 2
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease
2025 · Tobias Boettcher, Christian Beetz, et al. · Neurology Genetics · 2
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Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
2024 · Eva Berger, Robin-Tobias Jauss, et al. · Genetics in Medicine · 2
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Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
2025 · Christian A. Ganoza, Ana Westenberger, et al. · Movement Disorders
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Author response for "Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum"
2025 · Luba M. Pardo, Javier Martini, et al. · Publons reviews and discussion
P740: Impact of gene-disease relationship curation on patient diagnostics and panel design
2025 · Eleni Perraki, Mariana Ferreira, et al. · Genetics in Medicine Open
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CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
2024 · Najlaa A. Alsubeeh, Mohammed A. Almuqbil, et al. · American Journal of Medical Genetics Part A
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P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
2024 · Tobias Boettcher, Christian Beetz, et al. · Genetics in Medicine Open
Author response for "Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia"
2023 · Luba M. Pardo, Ruxandra Aanicai, et al. · Publons reviews and discussion
Works count: 14
Citation count: 28
H-index: 4
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