Publications by authors named "Ammar Husami"

20Publications

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

J Genet Genomics 2020 03 19;47(3):167-169. Epub 2020 Mar 19.

Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2020.03.001DOI Listing
March 2020

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

Pediatr Dermatol 2018 Mar 15;35(2):188-197. Epub 2018 Jan 15.

Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.

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http://dx.doi.org/10.1111/pde.13392DOI Listing
March 2018

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

Science 2015 Jul;349(6246):436-40

Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. Division of Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA.

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http://dx.doi.org/10.1126/science.aaa1663DOI Listing
July 2015

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

Front Genet 2014 12;5:16. Epub 2014 Feb 12.

Division of Rheumatology, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA ; Department of Veterans Affairs, Veterans Affairs Medical Center - Cincinnati, Cincinnati OH, USA.

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http://dx.doi.org/10.3389/fgene.2014.00016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921572PMC
February 2014

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

Pediatr Blood Cancer 2014 Jun 28;61(6):1034-40. Epub 2014 Jan 28.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/pbc.24955DOI Listing
June 2014

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Otolaryngol Head Neck Surg 2013 Jun 22;148(6):1007-16. Epub 2013 Mar 22.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1177/0194599813482294DOI Listing
June 2013

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

BMC Biotechnol 2010 Feb 10;10:10. Epub 2010 Feb 10.

1Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1186/1472-6750-10-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841091PMC
February 2010