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Author Details

Ammar Husami
Cincinnati Children's Hospital Medical Center
2010
31
16
PMIDPaper TitleJournal TitlePublished Year
37818777A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms.Pediatr Pulmonol2024
36184776Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry.Pediatr Blood Cancer2023
37860057Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.Learn Health Syst2023
37185208<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.J Med Genet2023
36548217Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.J Am Med Inform Assoc2023
36537278The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.J Pediatric Infect Dis Soc2023
36200420Mutations in the <i>RACGAP1</i> gene cause autosomal recessive congenital dyserythropoietic anemia type III.Haematologica2023
36209351PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.Am J Med Genet A2022
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
33771553Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.Gastroenterology2021
33653260vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration.BMC Bioinformatics2021
32317151Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations.J Genet Genomics2020
31379071Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease: Characterization and Risk Factors.Arthritis Rheumatol2019
29334134A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.Pediatr Dermatol2018
29889099Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.J Clin Invest2018
30379828Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.PLoS One2018
29729304Screening for Wiskott-Aldrich syndrome by flow cytometry.J Allergy Clin Immunol2018
29409136Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.Arthritis Rheumatol2018
29378236Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.Mol Cell Endocrinol2018
28502727Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.J Mol Diagn2017
26842493Clinical delineation of the PACS1-related syndrome--Report on 19 patients.Am J Med Genet A2016
26597256Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.J Infect Dis2016
27483465Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.PLoS One2016
26206937AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.Science2015
26284228Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.Front Pediatr2015
24470399The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.Pediatr Blood Cancer2014
25047945Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.Arthritis Rheumatol2014
24916509Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.Blood2014
24575121The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Front Genet2014
23525850Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.Otolaryngol Head Neck Surg2013
20146813High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.BMC Biotechnol2010
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Collaborators

Srikar Chamala
USC/Children's Hospital Los Angeles Los Angeles California USA.
Co-authored papers 3
James Shalaby
Co-authored papers 3
John B Harley
US Department of Veterans Affairs Medical Center
Co-authored papers 3
Bret S E Heale
Humanized Health Consulting LLC
Co-authored papers 3
Aziz A Boxwala
Elimu Informatics Inc.
Co-authored papers 3
Gil Alterovitz
Brigham and Women's Hospital
Co-authored papers 3
Bimal P Chaudhari
Nationwide Children's Hospital
Co-authored papers 2
Marc S Williams
University of Washington Medical Center
Co-authored papers 2
Robert R Freimuth
Center for Individualized Medicine, Mayo Clinic
Co-authored papers 2
Robert H Dolin
Elimu Informatics Inc.
Co-authored papers 2
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 2
Alex H Wagner
Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis
Co-authored papers 2
Lawrence Babb
Broad Institute of MIT and Harvard
Co-authored papers 2
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 1
Soichi Ogishima
Tohoku University Graduate School of Medicine
Co-authored papers 1
Helen Schuilenburg
European Bioinformatics Institute
Co-authored papers 1
Torsten Schwede
University of Basel
Co-authored papers 1
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 1
Brian Walsh
Oregon Health & Science University
Co-authored papers 1
Michael D Linderman
Middlebury College
Co-authored papers 1
Rachele M Hendricks-Sturrup
Duke-Margolis Center for Health Policy
Co-authored papers 1
Monica C Munoz-Torres
University of Colorado Anschutz Medical Campus
Co-authored papers 1
Megan Doerr
Cleveland Clinic
Co-authored papers 1
Neerjah Skantharajah
Ontario Institute for Cancer Research
Co-authored papers 1
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 1
Robert M Davies
Wellcome Sanger Institute
Co-authored papers 1
Danielle Denisko
University of Toronto
Co-authored papers 1
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 1
Reece K Hart
Broad Institute of MIT and Harvard
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Tristan Nelson
Genomic Medicine Institute
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