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Author Details

Joie Davis
National Institutes of Health
1998
62
37
PMIDPaper TitleJournal TitlePublished Year
36789433Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy.bioRxiv2023
37595058A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.Blood Adv2023
36166305Immunogenetics associated with severe coccidioidomycosis.JCI Insight2022
35753512Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.J Allergy Clin Immunol2022
30697248West Nile virus encephalitis in GATA2 deficiency.Allergy Asthma Clin Immunol2019
30170123Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.J Allergy Clin Immunol2019
30986499Outcomes of Related and Unrelated Donor Searches Among Patients with Primary Immunodeficiency Diseases Referred for Allogeneic Hematopoietic Cell Transplantation.Biol Blood Marrow Transplant2019
30755511<i>Cryptococcus deuterogattii</i> VGIIa Infection Associated with Travel to the Pacific Northwest Outbreak Region in an Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibody-Positive Patient in the United States.mBio2019
30723080Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.Blood2019
28603714Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Front Med (Lausanne)2017
26732763Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use.Sci Signal2016
26562225Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Genet Med2016
24398331Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.Blood2014
24402620Bone density and fractures in autosomal dominant hyper IgE syndrome.J Clin Immunol2014
23054345A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis.J Clin Immunol2013
23623265Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.J Allergy Clin Immunol2013
23407489Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing?Pancreas2013
23584561Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.J Clin Immunol2013
22983578In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.Haematologica2013
21931011Cutaneous manifestations of DOCK8 deficiency syndrome.Arch Dermatol2012
22843412The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.Brain2012
22237435Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.Genet Med2012
21079152Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.Blood2011
21810544A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).Mol Genet Metab2011
21288777Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES).Clin Immunol2011
21494893Coronary artery abnormalities in Hyper-IgE syndrome.J Clin Immunol2011
21490157FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.J Immunol2011
20360470Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.Blood2010
20159255Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.J Allergy Clin Immunol2010
20227752Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.J Allergy Clin Immunol2010
19214977Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS).Pediatr Blood Cancer2009
19776401Combined immunodeficiency associated with DOCK8 mutations.N Engl J Med2009
19478181Topographical and temporal diversity of the human skin microbiome.Science2009
18173452Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.Oral Dis2008
18852351The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.Arch Neurol2008
18337720Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.Nature2008
17438082Brain abnormalities in patients with hyperimmunoglobulin E syndrome.Pediatrics2007
17881745STAT3 mutations in the hyper-IgE syndrome.N Engl J Med2007
17369490Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.Blood2007
17335882Causes of death in hyper-IgE syndrome.J Allergy Clin Immunol2007
16257267HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).Clin Immunol2006
16940164Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome.Pediatrics2006
16446975Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.Hum Genet2006
15877736Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.Br J Haematol2005
16152640Stickler syndrome: clinical characteristics and diagnostic criteria.Am J Med Genet A2005
14722525Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.J Pediatr2004
15381553Dermatitis and the newborn rash of hyper-IgE syndrome.Arch Dermatol2004
14981714Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.Am J Med Genet A2004
12544472The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.Genet Med2003
12040228The role of the nurse in cancer genetics.Cancer Nurs2002
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Collaborators

Alexandra F Freeman
National Institute of Allergy and Infectious Diseases
Co-authored papers 16
Clair A Francomano
Indiana University School of Medicine
Co-authored papers 8
Alejandro A Sch??ffer
National Cancer Institute, National Institutes of Health
Co-authored papers 7
Douglas B Kuhns
Frederick National Laboratory for Cancer Research
Co-authored papers 4
Stefania Pittaluga
National Cancer Institute, National Institutes of Health
Co-authored papers 4
Joshua D Milner
Columbia University
Co-authored papers 4
Roxanne Fischer
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Catherine Groden
National Institutes of Health Intramural Research Program
Co-authored papers 3
Eric Karlins
Co-authored papers 2
Nicole L Washington
Renaissance Computing Institute, University of North Carolina
Co-authored papers 2
David R Adams
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Sergio D Rosenzweig
National Institute of Allergy and Infectious Diseases
Co-authored papers 2
Melissa A Haendel
Co-authored papers 2
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 2
Kathleen A Calzone
National Institutes of Health, National Cancer Institute, Center for Cancer Research
Co-authored papers 2
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 2
William P Bone
University of Pennsylvania - Perelman School of Medicine
Co-authored papers 2
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Thomas C Markello
National Institutes of Health
Co-authored papers 2
David Draper
National Institutes of Health
Co-authored papers 2
Elise Flynn
Royal Children's Hospital
Co-authored papers 2
Alice C Young
Co-authored papers 2
Michele Nehrebecky
National Human Genome Research Institute, National Institutes of Health (NIH)
Co-authored papers 2
Elaine S Jaffe
Center for Cancer Research, National Cancer Institute, National Institutes of Health
Co-authored papers 2
Colleen Wahl
National Institutes of Health
Co-authored papers 2
Amanda E Links
National Institutes of Health
Co-authored papers 2
Rena Godfrey
National Human Genome Research Institute, National Institutes of Health
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Camilo Toro
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Release 1.2