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Year Number of Results
2018 2
2019 1
2020 2
2021 4
2022 5
2023 4
2024 3

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20 results

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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Adrenal hyperplasias in childhood: An update.
Pitsava G, Stratakis CA. Pitsava G, et al. Front Endocrinol (Lausanne). 2022 Aug 3;13:937793. doi: 10.3389/fendo.2022.937793. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35992119 Free PMC article. Review.
PRKAR1A and Thyroid Tumors.
Pitsava G, Stratakis CA, Faucz FR. Pitsava G, et al. Cancers (Basel). 2021 Jul 30;13(15):3834. doi: 10.3390/cancers13153834. Cancers (Basel). 2021. PMID: 34359735 Free PMC article. Review.
Genetic Alterations in Benign Adrenal Tumors.
Pitsava G, Stratakis CA. Pitsava G, et al. Biomedicines. 2022 Apr 30;10(5):1041. doi: 10.3390/biomedicines10051041. Biomedicines. 2022. PMID: 35625779 Free PMC article. Review.
Disorders of the adrenal cortex: Genetic and molecular aspects.
Pitsava G, Maria AG, Faucz FR. Pitsava G, et al. Front Endocrinol (Lausanne). 2022 Aug 29;13:931389. doi: 10.3389/fendo.2022.931389. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36105398 Free PMC article. Review.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Among authors: pitsava g. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
20 results