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MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.
Kwok B, Hall JM, Witte JS, Xu Y, Reddy P, Lin K, Flamholz R, Dabbas B, Yung A, Al-Hafidh J, Balmert E, Vaupel C, El Hader C, McGinniss MJ, Nahas SA, Kines J, Bejar R. Kwok B, et al. Among authors: nahas sa. Blood. 2015 Nov 19;126(21):2355-61. doi: 10.1182/blood-2015-08-667063. Epub 2015 Oct 1. Blood. 2015. PMID: 26429975 Free PMC article.
Developmental and temporal characteristics of clonal sperm mosaicism.
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. Yang X, et al. Among authors: nahas s. Cell. 2021 Sep 2;184(18):4772-4783.e15. doi: 10.1016/j.cell.2021.07.024. Epub 2021 Aug 12. Cell. 2021. PMID: 34388390 Free PMC article.
Biallelic loss of GNAS in a patient with pediatric medulloblastoma.
Tokita MJ, Nahas S, Briggs B, Malicki DM, Mesirov JP, Reyes IAC, Farnaes L, Levy ML, Kingsmore SF, Dimmock D, Crawford JR, Wechsler-Reya RJ. Tokita MJ, et al. Among authors: nahas s. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004572. doi: 10.1101/mcs.a004572. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31624069 Free PMC article.
Somatic mosaicism reveals clonal distributions of neocortical development.
Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, Nott A, McEvoy-Venneri J, Pasillas MP, Barton ST, Copeland BR, Nahas S, Van Der Kraan L, Ding Y; NIMH Brain Somatic Mosaicism Network; Glass CK, Gleeson JG. Breuss MW, et al. Among authors: nahas s. Nature. 2022 Apr;604(7907):689-696. doi: 10.1038/s41586-022-04602-7. Epub 2022 Apr 20. Nature. 2022. PMID: 35444276 Free PMC article.
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG; RCIGM Investigators. Sanford EF, et al. Among authors: nahas sa. Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020. doi: 10.1097/PCC.0000000000002056. Pediatr Crit Care Med. 2019. PMID: 31246743 Free PMC article.
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S; RCIGM Investigators. Hildreth A, et al. Among authors: nahas s. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001966. doi: 10.1101/mcs.a001966. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28550066 Free PMC article.
362 results