Ryan Schmidt

6PUBLICATIONS
17CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene mappingMedical devicesPaediatrics not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Mar 29, 2023
Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.

Zarko Manojlovic, Allyn Auslander, Yuxin Jin

|Mar 04, 2022
Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping.

Jeffrey Jean, Alexandra E Kovach, Andrew Doan

|Feb 26, 2022
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.

Jeffrey Jean, Eirini Christodoulou, Xiaowu Gai

|Jun 09, 2021
Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review.

Murad Alturkustani, Ryan Schmidt, Christopher Gayer

|Jun 01, 2019
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Ozlem Senol-Cosar, Ryan J Schmidt, Emily Qian

|May 27, 2016
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Diana Mandelker, Ryan J Schmidt, Arunkanth Ankala

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Frequent Collaborators

2 joint publications

Matthew S Lebo

1 joint publications

Diana Mandelker

1 joint publications

Kristin McDonald Gibson

1 joint publications

Himanshu Sharma