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Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Vuocolo B, et al. Among authors: murali cn. Genet Med. 2024 Jun;26(6):101102. doi: 10.1016/j.gim.2024.101102. Epub 2024 Feb 29. Genet Med. 2024. PMID: 38431799 Free PMC article.
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H; Undiagnosed Diseases Network; Kooy RF, Weckhuysen S. Smal N, et al. Among authors: murali cn. Eur J Hum Genet. 2024 Nov;32(11):1378-1386. doi: 10.1038/s41431-024-01661-4. Epub 2024 Jul 4. Eur J Hum Genet. 2024. PMID: 38965372
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.
Durbin MD, Helvaty LR, Li M, Border W, Fitzgerald-Butt S, Garg V, Geddes GC, Helm BM, Lalani SR, McBride KL, McEntire A, Mitchell DK, Murali CN, Wechsler SB, Landis BJ, Ware SM. Durbin MD, et al. Among authors: murali cn. Genet Med Open. 2023 Apr 29;1(1):100814. doi: 10.1016/j.gimo.2023.100814. eCollection 2023. Genet Med Open. 2023. PMID: 39669248 Free PMC article.
A familial deletion of 10p12.1 associated with thrombocytopenia.
Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. Manohar S, et al. Among authors: murali cn. Am J Med Genet A. 2024 Jan;194(1):77-81. doi: 10.1002/ajmg.a.63403. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37746810
Muenke syndrome: Medical and surgical comorbidities and long-term management.
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A. Murali CN, et al. Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20. Am J Med Genet A. 2019. PMID: 31111620 Free PMC article.
39 results