Maria Delio

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. J. Giese, Jonathan M Grossheim et al. · PLoS ONE · 2015 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Maria Delio, Tingwei Guo, Donna M. McDonald‐McGinn et al. · The American Journal of Human Genetics · 2013 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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 et al. · Oncotarget · 2017 · 36 citations · Full text

Medicine, Molecular Genetics, Oncology +17

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 et al. · Human Molecular Genetics · 2016 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome

Maria Delio, Kathleen Pope, Tao Wang et al. · American Journal of Medical Genetics Part A · 2013 · 27 citations

Life Sciences, Genetics, Molecular Genetics +15