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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.
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 articles
hal-02635120v1
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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.
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.
Journal articles
hal-01975696v1
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Exploration of interaction between common and rare variants in genetic susceptibility to holoprosencephaly
Artem Kim
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.
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
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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.
Journal articles
hal-02888592v1
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