Publications by authors named "Georgia Pitsava"

Claim this Profile
G
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko

Genet Med· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko

medRxiv· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.
Christina Tatsi, Georgia Pitsava, Fabio R Faucz, Meg Keil, Constantine A Stratakis

J Clin Endocrinol Metab· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of variants from parent-proband duos via long-read sequencing.
Leandros Boukas, Emmanuèle C Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow

medRxiv· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Georgia Pitsava

Nature· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Georgia Pitsava

medRxiv· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Using a chat-based informed consent tool in large-scale genomic research.
Sarah K Savage, Jonathan LoTempio, Erica D Smith, E Hallie Andrew, Gloria Mas, Georgia Pitsava

J Am Med Inform Assoc· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome sequencing findings in children with annular pancreas.
Georgia Pitsava, Nathan Pankratz, John Lane, Wei Yang, Shannon Rigler

Mol Genet Genomic Med· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Seth I Berger, Georgia Pitsava, Andrea J Cohen, Emmanuèle C Délot, Jonathan LoTempio

Clin Genet· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
"
"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
Erica D Smith, Sarah K Savage, E Hallie Andrew, Gloria Mas Martin, Amanda H Kahn-Kirby, Georgia Pitsava

bioRxiv· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
Georgia Pitsava, Fabio R Faucz, Constantine A Stratakis, Fady Hannah-Shmouni

Curr Cardiol Rep· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disorders of the adrenal cortex: Genetic and molecular aspects.
Georgia Pitsava, Andrea G Maria, Fabio R Faucz

Front Endocrinol (Lausanne)· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Adrenal hyperplasias in childhood: An update.
Georgia Pitsava, Constantine A Stratakis

Front Endocrinol (Lausanne)· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome sequencing identifies variants in infants with sacral agenesis.
Georgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, John Lane, Denise M Kay

Birth Defects Res· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic Alterations in Benign Adrenal Tumors.
Georgia Pitsava, Constantine A Stratakis

Biomedicines· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency.
Georgia Pitsava, Nikolaos Settas, Fabio R Faucz, Constantine A Stratakis

Front Endocrinol (Lausanne)· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Georgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, John Lane, Denise M Kay

Am J Med Genet A· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
and Thyroid Tumors.
Georgia Pitsava, Constantine A Stratakis, Fabio R Faucz

Cancers (Basel)· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Predicting the risk of cardiac myxoma in Carney complex.
Georgia Pitsava, Chunming Zhu, Rajeshwari Sundaram, James L Mills, Constantine A Stratakis

Genet Med· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nut Consumption and Renal Function Among Women With a History of Gestational Diabetes.
Aparna S Ajjarapu, Stefanie N Hinkle, Jing Wu, Mengying Li, Shristi Rawal, Georgia Pitsava

J Ren Nutr· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intravenous fosfomycin in patients with liver disease for extensively drug-resistant Gram-negative bacteria.
Athina Pyrpasopoulou, Georgia Pitsava, Elias Iosifidis, George Imvrios, Eleni Massa

J Infect· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Ventilator-associated pneumonia in neonates and children: a systematic analysis of diagnostic methods and prevention.
Elias Iosifidis, Georgia Pitsava, Emmanuel Roilides

Future Microbiol· September 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis