Ryan J. Schmidt
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View article: Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution
Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution Open
Rhabdomyosarcoma is the most common soft tissue sarcoma in children and adolescents, and embryonal rhabdomyosarcoma (ERMS) is the most common subtype. Previous reports have identified a wide range of genetic aberrations in ERMS. However, t…
View article: Achieving ACGME Clinical Informatics Fellowship Accreditation: A Chronicle of Our Institution's Journey
Achieving ACGME Clinical Informatics Fellowship Accreditation: A Chronicle of Our Institution's Journey Open
Background Clinical Informatics (CI) is a dynamic field at the intersection of healthcare, technology, and information science, aimed at enhancing healthcare delivery and patient outcomes. CI fellowship programs prepare physicians to lead …
View article: Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort Open
View article: Histone H3 trimethylation on lysine 27 immunostaining pattern in DICER1-associated tumors
Histone H3 trimethylation on lysine 27 immunostaining pattern in DICER1-associated tumors Open
H3K27me3 expression is not universally lost in DICER1-associated tumors and thus is not predictive of DICER1 mutation status. The mosaic regional loss of H3K27me3 immunostaining is consistent in PPB type II and III, which can…
View article: Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group Open
View article: Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory Open
View article: Pediatric Sertoli-Leydig Cell Tumors of the Ovary
Pediatric Sertoli-Leydig Cell Tumors of the Ovary Open
Sertoli-Leydig cell tumors (SLCTs) are currently classified into 3 molecular subtypes: DICER1 -mutant (younger patient age), FOXL2 -mutant, and DICER1/FOXL2 -wildtype. However, it is not clear whether all pediatric SLCTs are DICER1 -mutant…
View article: A Primer on Gene Editing: What Does It Mean for Pathologists?
A Primer on Gene Editing: What Does It Mean for Pathologists? Open
Context Gene editing–based therapies are currently in development in the areas of oncology, inherited disease, and infectious disease. These potentially life-altering therapies are derived from decades of research in both academic and indu…
View article: Recommendations for Next-Generation Sequencing Germline Variant Confirmation
Recommendations for Next-Generation Sequencing Germline Variant Confirmation Open
View article: 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
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 Open
Background: Orofacial clefts (OFCs) are common congenital disabilities that can occur as isolated non-syndromic events or as part of Mendelian syndromes. OFC risk factors vary due to differences in regional environmental exposures, genetic…
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View article: Retinal manifestations in autosomal recessive <i>MPDZ</i> maculopathy: report of two cases and literature review
Retinal manifestations in autosomal recessive <i>MPDZ</i> maculopathy: report of two cases and literature review Open
MPDZ variants have been described in cases of congenital hydrocephalus with varying ophthalmologic manifestations. We present a case series describing retinal phenotypes associated with MPDZ variants in a single family through multimodal i…
View article: Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium
Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium Open
View article: High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects
High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects Open
Our previous work demonstrating enrichment of outflow tract (OFT) congenital heart disease (CHD) in children with cleft lip and/or palate (CL/P) suggests derangements in common underlying developmental pathways. The current pilot study exa…
View article: Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)
Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome) Open
View article: Characterization of <i>PAX5</i> intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping
Characterization of <i>PAX5</i> intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping Open
The PAX5 (paired-box domain gene 5) gene encodes a transcription factor with a key role in regulating B-cell differentiation. 1 PAX5 abnormalities are observed in 30% of B-lymphoblastic leukemia (B-ALL) cases, occurring as secondary change…
View article: m.3685T>C is a Novel Mitochondrial DNA Variant That Causes Leigh Syndrome
m.3685T>C is a Novel Mitochondrial DNA Variant That Causes Leigh Syndrome Open
Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the MT-ND1 (NADH:ubiquinone oxidoreductase core …
View article: Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome Open
Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pedia…
View article: Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal Cardiomyopathy
Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal Cardiomyopathy Open
Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated cardiomyopathy with a devast…
View article: Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults
Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults Open
Background Recent large-scale genomic studies have revealed a spectrum of genetic variants associated with specific subtypes of central nervous system (CNS) tumors. The aim of this study was to determine the clinical utility of comprehensi…
View article: Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy
Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy Open
Purpose: This case report discusses a case of bilateral chorioretinal anastomoses in autosomal recessive bestrophinopathy (ARB) unresponsive to antivascular endothelial growth factor therapy and its associated optical coherence tomography …
View article: Expanding the spectrum of dicer1-associated sarcomas
Expanding the spectrum of dicer1-associated sarcomas Open
View article: Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk Open
View article: Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease risk
Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease risk Open
Purpose Clinically relevant variants exhibit a wide range of penetrance. Medical practice has traditionally focused on highly penetrant variants with large effect sizes and, consequently, classification and clinical reporting frameworks ar…
View article: Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework Open
View article: Development of a Commercial Reference Laboratory Elective Rotation for Residents in Clinical Pathology
Development of a Commercial Reference Laboratory Elective Rotation for Residents in Clinical Pathology Open
The elective provided a resident training experience that was highly regarded and exposed residents to an area of laboratory medicine not encountered in most pathology training programs. Our curriculum could serve as a model for establishi…
View article: Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing Open