Georgia Pitsava
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View article: Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing Open
Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of paralogous genes together. We applied Parap…
View article: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Open
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagno…
View article: The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations
The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations Open
Context Carney complex (CNC) is a familial neoplasia syndrome associated with GH excess (GHE). Objective To describe the frequency of GHE in a large cohort of patients with CNC and to identify genotype-phenotype correlations. Methods Patie…
View article: <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders
<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders Open
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to disco…
View article: Using a chat-based informed consent tool in large-scale genomic research
Using a chat-based informed consent tool in large-scale genomic research Open
Objective We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study. Materials and Methods We created an Institutional Review Board-approved script for automated chat-b…
View article: Exome sequencing findings in children with annular pancreas
Exome sequencing findings in children with annular pancreas Open
Background Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inapp…
View article: Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis Open
We evaluated the diagnostic yield using genome‐slice panel reanalysis in the clinical setting using an automated phenotype/gene ranking system. We analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as…
View article: “Development and Implementation of Novel Chatbot-based Genomic Research Consent”
“Development and Implementation of Novel Chatbot-based Genomic Research Consent” Open
Objective To conduct a retrospective analysis comparing traditional human-based consenting to an automated chat-based consenting process. Materials and Methods We developed a new chat-based consent using our IRB-approved consent forms. We …
View article: Disorders of the adrenal cortex: Genetic and molecular aspects
Disorders of the adrenal cortex: Genetic and molecular aspects Open
Adrenal cortex produces glucocorticoids, mineralocorticoids and adrenal androgens which are essential for life, supporting balance, immune response and sexual maturation. Adrenocortical tumors and hyperplasias are a heterogenous group of a…
View article: Adrenal hyperplasias in childhood: An update
Adrenal hyperplasias in childhood: An update Open
Pediatric adrenocortical hyperplasias are rare; they usually present with Cushing syndrome (CS); of them, isolated micronodular adrenal disease and its variant, primary pigmented adrenocortical disease are the most commonly encountered. Mo…
View article: Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas Open
View article: Genetic Alterations in Benign Adrenal Tumors
Genetic Alterations in Benign Adrenal Tumors Open
The genetic basis of most types of adrenal adenomas has been elucidated over the past decade, leading to the association of adrenal gland pathologies with specific molecular defects. Various genetic studies have established links between v…
View article: Exome sequencing identifies variants in infants with sacral agenesis
Exome sequencing identifies variants in infants with sacral agenesis Open
Background Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one ha…
View article: Exome sequencing identifies variants in infants with sacral agenesis
Exome sequencing identifies variants in infants with sacral agenesis Open
Background: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one h…
View article: Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children Open
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for…
View article: PRKAR1A and Thyroid Tumors
PRKAR1A and Thyroid Tumors Open
Thyroid cancer is the most common type of endocrine malignancy and the incidence is rapidly increasing. Follicular (FTC) and papillary thyroid (PTC) carcinomas comprise the well-differentiated subtype and they are the two most common thyro…
View article: Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency
Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency Open
Succinate dehydrogenase (SDH) is a key respiratory enzyme that links Krebs cycle and electron transport chain and is comprised of four subunits SDHA, SDHB, SDHC and SDHD. All SDH -deficient tumors are caused by or secondary to loss of SDH …
View article: Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children Open
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for…
View article: Predicting the risk of cardiac myxoma in Carney complex
Predicting the risk of cardiac myxoma in Carney complex Open
View article: SUN-713 Prevalence of Renal Cysts in Patients with Carney Complex
SUN-713 Prevalence of Renal Cysts in Patients with Carney Complex Open
In the general population renal cysts appear most commonly in patients >50 y and in men. Among published studies, the prevalence of renal cysts detected by MRI was 27%, detected by CT was 20-41%, and detected by US was 4-17% (Mensel, et…
View article: Nut Consumption and Renal Function Among Women With a History of Gestational Diabetes
Nut Consumption and Renal Function Among Women With a History of Gestational Diabetes Open
View article: Use of the WHO Access, Watch, and Reserve classification to define patterns of hospital antibiotic use (AWaRe): an analysis of paediatric survey data from 56 countries
Use of the WHO Access, Watch, and Reserve classification to define patterns of hospital antibiotic use (AWaRe): an analysis of paediatric survey data from 56 countries Open
View article: Nut Consumption and Renal Function Among Women at High Risk (FS10-05-19)
Nut Consumption and Renal Function Among Women at High Risk (FS10-05-19) Open
OBJECTIVES: Women with gestational diabetes (GDM) are at increased risk for renal complications later in life. Nut intake has been associated with reduced cardiometabolic risk, but few studies have examined its association with renal funct…