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Page 1
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: salyakina d. Eur J Hum Genet. 2024 Aug;32(8):912-919. doi: 10.1038/s41431-024-01600-3. Epub 2024 Apr 2. Eur J Hum Genet. 2024. PMID: 38565639 Free PMC article.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: salyakina d. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L, Larson A, Salz L, Veith R, Tsai JP, Jayakar A, Chapman R, Gupta A, Kingsmore SF, Dimmock D, Bedrick A, Galindo MK, Casas K, Mohamed M, Straight L, Khan MA, Salyakina D. Thompson L, et al. Among authors: salyakina d. Front Pediatr. 2024 Feb 19;12:1349519. doi: 10.3389/fped.2024.1349519. eCollection 2024. Front Pediatr. 2024. PMID: 38440187 Free PMC article.
Feasibility of functional precision medicine for guiding treatment of relapsed or refractory pediatric cancers.
Acanda De La Rocha AM, Berlow NE, Fader M, Coats ER, Saghira C, Espinal PS, Galano J, Khatib Z, Abdella H, Maher OM, Vorontsova Y, Andrade-Feraud CM, Daccache A, Jacome A, Reis V, Holcomb B, Ghurani Y, Rimblas L, Guilarte TR, Hu N, Salyakina D, Azzam DJ. Acanda De La Rocha AM, et al. Among authors: salyakina d. Nat Med. 2024 Apr;30(4):990-1000. doi: 10.1038/s41591-024-02848-4. Epub 2024 Apr 11. Nat Med. 2024. PMID: 38605166 Free PMC article.
EHR-based Case Identification of Pediatric Long COVID: A Report from the RECOVER EHR Cohort.
Botdorf M, Dickinson K, Lorman V, Razzaghi H, Marchesani N, Rao S, Rogerson C, Higginbotham M, Mejias A, Salyakina D, Thacker D, Dandachi D, Christakis DA, Taylor E, Schwenk H, Morizono H, Cogen J, Pajor NM, Jhaveri R, Forrest CB, Bailey LC. Botdorf M, et al. Among authors: salyakina d. medRxiv [Preprint]. 2024 Aug 26:2024.05.23.24307492. doi: 10.1101/2024.05.23.24307492. medRxiv. 2024. PMID: 38826460 Free PMC article. Preprint.
Response to Grosse and Gudgeon.
Lavelle TA, Feng X, Keisler M, Cohen JT, Neumann PJ, Prichard D, Schroeder BE, Salyakina D, Espinal PS, Weidner SB, Maron JL. Lavelle TA, et al. Among authors: salyakina d. Genet Med. 2022 Dec;24(12):2597-2598. doi: 10.1016/j.gim.2022.08.031. Epub 2022 Sep 28. Genet Med. 2022. PMID: 36166002 Free article. No abstract available.
A Case-Control Study Evaluating Risk Factors and Outcomes of Hospitalized Children With ESBL-UTI.
Hassor S, Etinger V, Villacis DS, Houssay M, Bukhari A, Gruber J, Iskowitz S, Marin BF, Chinga ML, Sedor A, Rockwell M, Berrios L, Calderon R, Laufer PM, Gupta A, Salyakina D, Clemente M. Hassor S, et al. Among authors: salyakina d. Clin Pediatr (Phila). 2022 Nov;61(11):759-767. doi: 10.1177/00099228221100064. Epub 2022 Jul 26. Clin Pediatr (Phila). 2022. PMID: 35883255
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Diaby V, Babcock A, Huang Y, Moussa RK, Espinal PS, Janvier M, Soler D, Gupta A, Jayakar P, Diaz-Barbosa M, Totapally B, Sasaki J, Jayakar A, Salyakina D. Diaby V, et al. Among authors: salyakina d. Pharmacogenomics J. 2022 Jul;22(4):223-229. doi: 10.1038/s41397-022-00277-5. Epub 2022 Apr 18. Pharmacogenomics J. 2022. PMID: 35436997
62 results