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Borut Peterlin

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · Birte Zurek, Kornelia Ellwanger, et al. · European Journal of Human Genetics · 94
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021 · Leslie Matalonga, Carles Hernández-Ferrer, et al. · European Journal of Human Genetics · 65
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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
2025 · Steven Laurie, Wouter Steyaert, et al. · Nature Medicine · 58
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
2023 · Annalisa Vetro, Cristiana Pelorosso, et al. · The American Journal of Human Genetics · 44
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
2023 · Burcu Yaldiz, Erdi Kucuk, et al. · Human Genomics · 29
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Brain malformations and seizures by impaired chaperonin function of TRiC
2024 · Florian Kraft, Piere Rodriguez-Aliaga, et al. · Science · 27
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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
2020 · Marco Savarese, Mridul Johari, et al. · Journal of Neuromuscular Diseases · 26
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021 · Rebecca Schüle, Dagmar Timmann, et al. · European Journal of Human Genetics · 16
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
2023 · Adam Jackson, Sheng-Jia Lin, et al. · Human Genetics and Genomics Advances · 12
An interconnected data infrastructure to support large-scale rare disease research
2024 · Lennart F Johansson, Steve Laurie, et al. · GigaScience · 10
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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study
2020 · Borut Peterlin, Francesca Gualandi, et al. · PLoS ONE · 10
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 · Anne-Sophie Denommé-Pichon, Leslie Matalonga, et al. · Genetics in Medicine · 6
Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population
2025 · Aleš Maver, Peter Juvan, et al. · Scientific Reports · 3
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P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
2023 · Philip Boone, Kamli Faour, et al. · Genetics in Medicine Open · 2
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
2025 · Steven Laurie, Wouter Steyaert, et al. · Nature Medicine · 1
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Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
2025 · Victoria Lillback, Gaber Bergant, et al. · Journal of Medical Genetics · 1
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
2022 · Francesca Forzano, Olga Antonova, et al. · European Journal of Human Genetics · 1
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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021 · Leslie Matalonga, Carles Hernández-Ferrer, et al. · European Journal of Human Genetics · 1
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Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · Birte Zurek, Kornelia Ellwanger, et al. · European Journal of Human Genetics · 1
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Novel MBTPS1 variant associated with Kondo-Fu syndrome with expanded skeletal manifestations and a distinctive biochemical profile
2026 · Dorra Najjar, Aleš Maver, et al. · Frontiers in Endocrinology
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Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population
2026 · Urška Kotnik, Luca Lovrecic, et al. · Frontiers in Genetics
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Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
2022 · Francesca Forzano, Olga Antonova, et al. · European Journal of Human Genetics
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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021 · Rebecca Schüle, Dagmar Timmann, et al. · European Journal of Human Genetics
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Epigenetic Biomarkers in Neurodegenerative Disorders
2009 · Borut Peterlin · Epigenetics and human health
Works count: 31
Citation count: 491
H-index: 11
I10-index: 13
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