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Page 1
Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C).
Chou J, Platt CD, Habiballah S, Nguyen AA, Elkins M, Weeks S, Peters Z, Day-Lewis M, Novak T, Armant M, Williams L, Rockowitz S, Sliz P, Williams DA, Randolph AG, Geha RS; Taking on COVID-19 Together Study Investigators. Chou J, et al. Among authors: rockowitz s. J Allergy Clin Immunol. 2021 Sep;148(3):732-738.e1. doi: 10.1016/j.jaci.2021.06.024. Epub 2021 Jul 2. J Allergy Clin Immunol. 2021. PMID: 34224783 Free PMC article.
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
Collen LV, Kim DY, Field M, Okoroafor I, Saccocia G, Whitcomb SD, Green J, Dong MD, Barends J, Carey B, Weatherly ME; Regeneron Genetics centre; Rockowitz S, Sliz P, Liu E, Eran A, Grushkin-Lerner L, Bousvaros A, Muise AM, Klein C, Mitsialis V, Ouahed J, Snapper SB. Collen LV, et al. Among authors: rockowitz s. J Crohns Colitis. 2022 Sep 8;16(9):1380-1396. doi: 10.1093/ecco-jcc/jjac045. J Crohns Colitis. 2022. PMID: 35366317 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33574273
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Rockowitz S, et al. NPJ Genom Med. 2020 Jul 6;5:29. doi: 10.1038/s41525-020-0137-0. eCollection 2020. NPJ Genom Med. 2020. PMID: 32655885 Free PMC article.
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA. Renella R, et al. Among authors: rockowitz s. Am J Hematol. 2022 Jan 1;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 3. Am J Hematol. 2022. PMID: 34677878 Free PMC article.
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Chopra M, et al. Among authors: rockowitz s. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. Ann Clin Transl Neurol. 2022. PMID: 35076175 Free PMC article.
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH. Parikh JR, et al. Among authors: rockowitz s. HGG Adv. 2021 Jul;2(3):100035. doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11. HGG Adv. 2021. PMID: 34514437 Free PMC article.
52 results