Publications by authors named "Maria Delio"

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Stuart A Scott, Erick R Scott, Yoshinori Seki, Annette J Chen, Richard Wallsten, Maria Delio

Clin Transl Sci· January 2021

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Eirwen M Miller, Nicole E Patterson, Jenna Marcus Zechmeister, Michal Bejerano-Sagie, Maria Delio

Oncotarget· November 2017

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Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
Xingyi Guo, Maria Delio, Nousin Haque, Raquel Castellanos, Matthew S Hestand

Hum Mol Genet· September 2016

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A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Maria Delio

PLoS One· June 2016

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Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Maria Delio, Kunjan Patel, Alex Maslov, Robert W Marion, Thomas V McDonald

PLoS One· May 2016

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Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Maria Delio

PLoS One· January 2016

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Primary Hepatic Small Cell Carcinoma: Two Case Reports, Molecular Characterization and Pooled Analysis of Known Clinical Data.
Aditi Shastri, Pavlos Msaouel, Cristina Montagna, Sherry White, Maria Delio

Anticancer Res· January 2016

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Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
Deborah Edelman, Harmit Kalia, Maria Delio, Mustafa Alani, Karthik Krishnamurthy

Mol Genet Genomic Med· November 2015

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Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Maria Delio, Kathleen Pope, Tao Wang, Joy Samanich, Chad R Haldeman-Englert

Am J Med Genet A· March 2013

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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman

Am J Hum Genet· March 2013

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Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
Sean Herman, Maria Delio, Bernice Morrow, Joy Samanich

Gene· February 2012

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