D. Kissell

发表

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

Ammar Husami, Kejian Zhang, A. Filipovich, 2014, Blood.

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

Lauren B. Smith, J. Siddiqui, L. Napolitano, 2016, The Journal of infectious diseases.

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

J. Hughes, J. McElwee, Y. Zhang, 2015, Science.

Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results.

I. Holm, M. Myers, Cassandra L. Perry, 2017, Pharmacogenomics.

A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa

Kejian Zhang, A. Lucky, Ammar Husami, 2018, Pediatric dermatology.

Genotype-Directed Dosing Leads to Optimized Voriconazole Levels in Pediatric Patients Receiving Hematopoietic Stem Cell Transplantation.

A. Vinks, S. Davies, P. Mehta, 2016, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2013, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

T. A. Sivakumaran, M. Keddache, B. Tinkle, 2013, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

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

J. Meller, P. S. Klein, Kejian Zhang, 2011, Blood.

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

J. Meller, P. S. Klein, Kejian Zhang, 2012 .

The 253‐kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3

M. Weirauch, Kejian Zhang, A. Filipovich, 2014, Pediatric Blood & Cancer.

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

K. Marder, T. Foroud, A. Rudolph, 2009, Neurology.

Variation in GIGYF2 is not associated with Parkinson disease

T. Foroud, A. Rudolph, N. Pankratz, 2009, Neurology.

Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

T. Foroud, A. Rudolph, D. Simon, 2010, BMC Medical Genetics.