Diane Kissell

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

Bernice Lo, Kejian Zhang, Wei Lü et al. · Science · 2015 · 684 citations

Life Sciences, Immunology, Pharmacology +17

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

Kejian Zhang, Michael B. Jordan, Rebecca Marsh et al. · Blood · 2011 · 424 citations

Life Sciences, Genetics, Molecular Genetics +9

Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza

Grant S. Schulert, Mingce Zhang, Ndate Fall et al. · The Journal of Infectious Diseases · 2015 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

Kejian Zhang, Shanmuganathan Chandrakasan, Heather Chapman et al. · Blood · 2014 · 144 citations · Full text

Medicine, Hematology, Molecular Genetics +15

<i>Parkin</i> dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

Nathan Pankratz, Diane Kissell, Michael W. Pauciulo et al. · Neurology · 2009 · 73 citations · Full text

Life Sciences, Genetics, Neurology +17