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Page 1
Molecular Genetics and Complex Inheritance of Congenital Heart Disease.
Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Diab NS, et al. Among authors: barish s. Genes (Basel). 2021 Jun 30;12(7):1020. doi: 10.3390/genes12071020. Genes (Basel). 2021. PMID: 34209044 Free PMC article. Review.
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ØL, Busk ØL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Barish S, et al. Am J Hum Genet. 2024 Nov 7;111(11):2566-2581. doi: 10.1016/j.ajhg.2024.10.002. Epub 2024 Oct 28. Am J Hum Genet. 2024. PMID: 39471804
Colonial-driven extinction of the blue antelope despite genomic adaptation to low population size.
Hempel E, Faith JT, Preick M, de Jager D, Barish S, Hartmann S, Grau JH, Moodley Y, Gedman G, Pirovich KM, Bibi F, Kalthoff DC, Bocklandt S, Lamm B, Dalén L, Westbury MV, Hofreiter M. Hempel E, et al. Among authors: barish s. Curr Biol. 2024 May 6;34(9):2020-2029.e6. doi: 10.1016/j.cub.2024.03.051. Epub 2024 Apr 12. Curr Biol. 2024. PMID: 38614080 Free article.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: barish s. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
Time to move beyond surgical classification systems for endometriosis.
Hernández Cardona MI, Ajewole C, Lewis H, Carrillo JF, Castellanos ME, Barish S, Echeverri JDV, Lamvu G. Hernández Cardona MI, et al. Among authors: barish s. Int J Gynaecol Obstet. 2023 Oct;163(1):58-62. doi: 10.1002/ijgo.14786. Epub 2023 Apr 26. Int J Gynaecol Obstet. 2023. PMID: 37101408 Review.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network; Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010 Free PMC article.
27 results