Ammar Husami

I'm a Senior Bioinformatics Analyst at Cincinnati Children's Hospital Medical Center, where I specialize in Next-Generation Sequencing. Before this role, I had the privilege of collaborating with brilliant clinical scientists at the same institution. My primary focus is on crafting and refining bioinformatics pipelines that help us analyze genomic data to pinpoint variants responsible for diseases.

I have a deep passion for clinical genomics, especially in understanding and interpreting variants related to rare genetic conditions such as congenital dyserythropoietic anemia, hemophagocytic lymphohistiocytosis, and inherited hearing loss. I've contributed to the development of crucial tools like the Cincinnati Clinical Exome Pipeline Analysis Suite (CCEPAS), which aids in processing whole exome sequencing data to uncover causative genetic variants.

My research interests bridge both the clinical and basic science aspects of next-generation sequencing. I cherish the opportunity to work hand-in-hand with clinicians and researchers to enhance our sequencing strategies and analysis techniques. My aim is always to improve the precision and efficiency of variant detection and interpretation, thereby enhancing diagnostic outcomes for our patients. Each step of this journey is driven by a desire to make a meaningful difference in the lives of those we serve.

Publications

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Athina Ntoumaziou, Duc Nguyen, Yasmin Elgammal, Ammar Husami, Wenying Zhang, Kaitlin D Weaver, Jennifer L. Kasten, David D. Grier, Yi Zheng, Carolyn Lutzko, M. Risinger, Jan Frayne, K. Seu, T. Kalfa

Blood 2024

Ammar Husami

Publications

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate

Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation

A Novel Beta Globin Frameshift Mutation Causing Autosomal Dominant Beta Thalassemia

Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR)

A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms

Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR‐formatted genomic variants

ARF1-related disorder: phenotypic and molecular spectrum

Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration

The 2019-2020 dengue fever epidemic: genomic markers indicating severity in Dominican Republic children.

De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

P1431: MOLECULAR CHARACTERIZATION AND LENTIVIRAL CORRECTION OF IN VITRO ERYTHROPOIEIS IN PATIENTS WITH A NOVEL RECESSIVE CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III (CDA TYPE IIIB).

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms: ABCC12 pathogenic variants lead to cholestasis.

vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration

Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations.

Two Novel Mutations in SALL1 Cause Townes-Brocks-Like Syndrome: New Findings from an Old Case

Systemic Juvenile Idiopathic Arthritis–Associated Lung Disease: Characterization and Risk Factors

Peroxiredoxin II (PRDX2) Is a Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Screening for Wiskott-Aldrich syndrome by flow cytometry.

Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

Brief Report: Novel UNC13D Intronic Variant Disrupting an NF‐κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis

Novel UNC13D intronic variant disrupting a NF κB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis

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

CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking

The First Registry for Patients with Congenital Dyserythropoietic Anemia in North America: Design and Preliminary Results

Cancer: beautiful body

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

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

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

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

Clinical delineation of the PACS1-related Syndrome

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis

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

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

Development Of a Comprehensive Rapid Next-Generation Sequencing Assay For The Diagnosis Of Inherited Hemolytic Anemia

Next Generation Sequencing Technologies in Medical Genetics

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

Next Generation Sequencing for Diagnostic Testing of Erythrocyte Cytoskeleton Disorders

Use of Endoscopic Vascularized Nasoseptal Flap in Children

The Use of Next-Generation Sequencing for Hearing Loss

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders

Partial growth hormone insensitivity and dysregulatory immune disease associated 1 with novo germline activating STAT3 mutations.

PHAGOCYTES , GRANULOCYTES , AND MYELOPOIESIS Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing

Sanger Sequencing Principles, History, and Landmarks

Exome Sequencing as a Discovery and Diagnostic Tool

Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview

A Survey of Next-Generation–Sequencing Technologies

NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders

Next-Generation–Sequencing-Based Noninvasive Prenatal Diagnosis

Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics

A Review of DNA Enrichment Technologies

Application of Next-Generation–Sequencing in Hearing Loss Diagnosis