Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

Olivier Bluteau, Marie Sébert, Thierry Leblanc et al. · Blood · 2017 · 342 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Heterodimeric GTPase Core of the SRP Targeting Complex

Pamela J. Focia, Irina V. Shepotinovskaya, James A. Seidler et al. · Science · 2004 · 255 citations

Life Sciences, Biochemistry, Molecular Biology +15

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

David S. Grenda, Mark A. Murakami, Jhuma Ghatak et al. · Blood · 2007 · 204 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Raphaël Carapito, Martina Konantz, Catherine Paillard et al. · Journal of Clinical Investigation · 2017 · 174 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Christine Bellanné‐Chantelot, Barbara Schmaltz-Panneau, Caroline Marty et al. · Blood · 2018 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9