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Page 1
Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies.
Nguyen AA, Habiballah SB, LaBere B, Day-Lewis M, Elkins M, Al-Musa A, Chu A, Jones J, Fried AJ, McDonald D, Hoytema van Konijnenburg DP, Rockowitz S, Sliz P, Oettgen HC, Schneider LC, MacGinnitie A, Bartnikas LM, Platt CD, Ohsumi TK, Chou J. Nguyen AA, et al. Among authors: rockowitz s. J Allergy Clin Immunol Pract. 2023 Nov;11(11):3391-3399.e3. doi: 10.1016/j.jaip.2023.07.042. Epub 2023 Aug 5. J Allergy Clin Immunol Pract. 2023. PMID: 37544429
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. Among authors: rockowitz s. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: rockowitz s. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.
Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA. Hojlo MA, et al. Among authors: rockowitz s. Genes (Basel). 2023 Mar 23;14(4):779. doi: 10.3390/genes14040779. Genes (Basel). 2023. PMID: 37107537 Free PMC article.
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Estrella E, et al. Among authors: rockowitz s. Adv Genet (Hoboken). 2022 Nov 27;4(1):2200013. doi: 10.1002/ggn2.202200013. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910591 Free PMC article.
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.
Dias CM, Issac B, Sun L, Lukowicz A, Talukdar M, Akula SK, Miller MB, Walsh K, Rockowitz S, Walsh CA. Dias CM, et al. Among authors: rockowitz s. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2300052120. doi: 10.1073/pnas.2300052120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252957 Free PMC article.
52 results