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authFullName_s : Artem Kim

How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly

Artem Kim , Jérôme Le Douce , Farah Diab , Monika Ferorova , Christèle Dubourg et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.81-81. ⟨10.1038/s41431-021-01025-2⟩
Journal articles hal-03693286v1
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Disrupted hypothalamo-pituitary axis in association with reduced SHH underlies the pathogenesis of NOTCH-deficiency

Houda Hamdi-Roze , Michelle Ware , Hélène Guyodo , Aurélie Rizzo , Leslie Ratié et al.
Journal of Clinical Endocrinology and Metabolism, 2020, 105 (9), pp.dgaa249. ⟨10.1210/clinem/dgaa249⟩
Journal articles hal-02635120v1

Genetics of neural tube defects: new candidate genes and complex mode of inheritance

Marie Faoucher , Artem Kim , Marie Beaumont , Wilfrid Carre , Hubert Journel et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.351-352. ⟨10.1038/s41431-021-01026-1⟩
Journal articles hal-03693275v1
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Integrated clinical and omics approach to rare diseases novel genes and oligogenic inheritance in holoprosencephaly

Artem Kim , Clara Savary , Christèle Dubourg , Wilfrid Carré , Charlotte Mouden et al.
Brain - A Journal of Neurology , 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Journal articles hal-01975696v1
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Exploration of interaction between common and rare variants in genetic susceptibility to holoprosencephaly

Artem Kim
Human health and pathology. Université de Rennes, 2020. English. ⟨NNT : 2020REN1B019⟩
Theses tel-03199534v1
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Depicting the genetic architecture of pediatric cancers through an integrative gene network approach

Clara Savary , Artem Kim , Alexandra Lespagnol , Virginie Gandemer , Isabelle Pellier et al.
Scientific Reports, 2020, 10 (1), pp.1224. ⟨10.1038/s41598-020-58179-0⟩
Journal articles hal-02472258v1
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Recent advances in understanding inheritance of Holoprosencephaly

Christèle Dubourg , Artem Kim , Erwan Watrin , Marie de Tayrac , Sylvie Odent et al.
American Journal of Medical Genetics Part C Seminar in Medical Genetics, 2018, Holoprosencephaly, 178 (2), pp.258-269. ⟨10.1002/ajmg.c.31619⟩
Journal articles hal-01812521v2

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Artem Kim , Jérôme Le Douce , Farah Diab , Monika Ferovova , Christèle Dubourg et al.
Brain - A Journal of Neurology , 2020, 143 (7), pp.2027-2038. ⟨10.1093/brain/awaa152⟩
Journal articles hal-02888592v1