MacGregor Steele

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Juan D. Matute, Andrés A. Arias, Nicola Wright et al. · Blood · 2009 · 415 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska et al. · Journal of Medical Genetics · 2015 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations

Elena Tsangaris, Robert J. Klaassen, Conrad V. Fernandez et al. · Journal of Medical Genetics · 2011 · 68 citations

Life Sciences, Genetics, Molecular Genetics +14

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

S K Hashmi, Christopher Allen, Robert J. Klaassen et al. · Clinical Genetics · 2010 · 64 citations

Life Sciences, Genetics, Hematology +16

Clinical and Genetic Analysis of Unclassifiable Inherited Bone Marrow Failure Syndromes

Juliana Teo, Robert J. Klaassen, Conrad V. Fernandez et al. · PEDIATRICS · 2008 · 44 citations

Life Sciences, Genetics, Hematology +11