Concepedia

Anne‐Claire Boschat

AB

6

Publications

431

Citations

6

H-Index

2017

Active since

Affiliations

Université Paris Cité(Current)

Inserm

Institut des Maladies Génétiques Imagine

Assistance Publique – Hôpitaux de Paris

Hôpital Necker-Enfants Malades

Anne‐Claire Boschat is an author at Université Paris Cité specializing in genetics, molecular genetics, and medicine.

ORCID

Top concepts

Publications per year

2017–2023

6

Publications

6

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

, , +5

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek et al. · Nature Communications · 2019 · 93 citations · Full text

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation

Emmanuel Martin, Norbert Minet, Anne‐Claire Boschat et al. · JCI Insight · 2020 · 56 citations · Full text

, , +21

The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesis

Mahmoud Mikdar, Pedro González‐Menéndez, Xiaoli Cai et al. · Blood · 2021 · 36 citations · Full text

Differential roles of CTP synthetases CTPS1 and CTPS2 in cell proliferation

Norbert Minet, Anne‐Claire Boschat, Rebecca Lane et al. · Life Science Alliance · 2023 · 20 citations · Full text

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