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Joanna Giemza

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
2016 · Estelle Colin, Jens Daniel, et al. · The American Journal of Human Genetics · 120
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
2019 · A. Raveane, S. Aneli, et al. · Science Advances · 73
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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
2018 · Artem Kim, Clara Savary, et al. · Brain · 66
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The genetic history of France
2020 · Aude Saint Pierre, Joanna Giemza, et al. · European Journal of Human Genetics · 28
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Transcription of intragenic CpG islands influences spatiotemporal host gene pre-mRNA processing
2020 · Samuele M Amante, Bertille Montibus, et al. · Nucleic Acids Research · 19
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Human genetic structure in Northwest France provides new insights into West European historical demography
2024 · Isabel Alves, Joanna Giemza, et al. · Nature Communications · 17
How local reference panels improve imputation in French populations
2024 · Anthony F. Herzig, Lourdes Velo‐Suárez, et al. · Scientific Reports · 15
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SwiftDossier: Tailored Automatic Dossier for Drug Discovery with LLMs and Agents
2024 · Fossi, Gabriele, Boulaimen, Youssef, et al. · arXiv (Cornell University) · 6
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SURFBAT: a surrogate family based association test building on large imputation reference panels
2024 · Anthony F Herzig, Simone Rubinacci, et al. · G3 Genes Genomes Genetics · 4
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Benchmark of computational methods to detect digenism in sequencing data
2025 · Marie-Sophie C. Ogloblinsky, Donald F. Conrad, et al. · European Journal of Human Genetics · 2
Integrating Large Language Models for Genetic Variant Classification
2024 · Boulaimen, Youssef, Fossi, Gabriele, et al. · arXiv (Cornell University) · 2
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Correction: The genetic history of France
2020 · Aude Saint Pierre, Joanna Giemza, et al. · European Journal of Human Genetics · 1
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Abstract 5370: New oncology target identification and validation platform combining artificial intelligence and preclinical pharmacology
2023 · Sebastien Vachenc, Nicolas Ancellin, et al. · Cancer Research
Fine-scale genetic population structure in France
2019 · Joanna Giemza · theses.fr (ABES)
Fine-scale Genetic Structure in Western France
2015 · Simonet, F, Karakachoff, Matilde, et al. · HAL
Works count: 16
Citation count: 353
H-index: 7
I10-index: 7
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