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Shira Rockowitz, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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Displaying 25 of 49 total Publications Show all
  1. Martinez-Sanchez M, Skarnes W, Jain A, Vemula S, Sun L, Rockowitz S, Whitman MC. Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons. Genes (Basel). 2025 Jan 12; 16(1). PMID: 39858627; PMCID: PMC11764630.
    Citations:
    Fields: GenGenetics
  2. French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. PMID: 39622807; PMCID: PMC11612168.
    Citations:
  3. D'Gama AM, Shao W, Smith L, Koh HY, Davis M, Koh J, Oby BT, Urzua CI, Sheidley BR, Rockowitz S, Poduri A. Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. JAMA Neurol. 2024 Dec 01; 81(12):1316-1318. PMID: 39432277; PMCID: PMC11494465.
    Citations:
    Fields: NeuNeurology
  4. D'Gama AM, Shao W, Smith L, Koh HY, Davis M, Koh J, Oby BT, Urzua CI, Sheidley BR, Rockowitz S, Poduri A. Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. medRxiv. 2024 Aug 09. PMID: 39148850; PMCID: PMC11326351.
    Citations:
  5. Dias C, Mo A, Cai C, Sun L, Cabral K, Brownstein CA, Rockowitz S, Walsh CA. Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. Am J Hum Genet. 2024 Aug 08; 111(8):1544-1558. PMID: 39079538; PMCID: PMC11339625.
    Citations:
    Fields: GenGenetics, MedicalTranslation:HumansCells
  6. Roy R, Man E, Aldakhlallah R, Gonzalez K, Merritt L, Daisy C, Lombardo M, Yordanova V, Sun L, Isaac B, Rockowitz S, Lotz M, Pories S, Moses MA. Mammary adipocytes promote breast tumor cell invasion and angiogenesis in the context of menopause and obesity. Biochim Biophys Acta Mol Basis Dis. 2024 10; 1870(7):167325. PMID: 38925485.
    Citations:
    Fields: BioBiochemistryBioBiophysicsGenGenetics, MedicalTranslation:HumansCells
  7. Dias C, Mo A, Cai C, Sun L, Cabral K, Brownstein CA, Rockowitz S, Walsh CA. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. bioRxiv. 2024 May 22. PMID: 38826276; PMCID: PMC11142199.
    Citations:
  8. Tindula G, Issac B, Mukherjee SK, Ekramullah SM, Arman DM, Islam J, Suchanda HS, Sun L, Rockowitz S, Christiani DC, Warf BC, Mazumdar M. Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh. Birth Defects Res. 2024 Mar; 116(3):e2331. PMID: 38526198; PMCID: PMC10963057.
    Citations: 1
    Fields: EmbEmbryologyTerTeratologyToxToxicologyTranslation:Humans
  9. Barraza-Flores P, Moghadaszadeh B, Lee W, Isaac B, Sun L, Troiano EC, Rockowitz S, Sliz P, Beggs AH. Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes. bioRxiv. 2024 Feb 26. PMID: 38464009; PMCID: PMC10925121.
    Citations:
  10. Fligor SC, Tsikis ST, Hirsch TI, Jain A, Sun L, Rockowitz S, Gura KM, Puder M. Inflammation drives pathogenesis of early intestinal failure-associated liver disease. Sci Rep. 2024 02 20; 14(1):4240. PMID: 38378873; PMCID: PMC10879484.
    Citations: 2
    Fields: SciScienceTranslation:HumansAnimals
  11. Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. PMID: 38297832; PMCID: PMC10876629.
    Citations: 1
    Fields: GenGeneticsTranslation:Humans
  12. Strakosha M, Vega-Mendoza D, Kane J, Jain A, Sun L, Rockowitz S, Elkins M, Miyake K, Chou J, Karasuyama H, Geha RS, Leyva-Castillo JM. Basophils Play a Protective Role in the Recovery of Skin Barrier Function from Mechanical Injury in Mice. J Invest Dermatol. 2024 Aug; 144(8):1784-1797.e4. PMID: 38286187; PMCID: PMC11260541.
    Citations: 3
    Fields: DerDermatologyTranslation:AnimalsCells
  13. Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28. PMID: 37808847; PMCID: PMC10557843.
    Citations:
  14. 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. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023 09; 22(9):812-825. PMID: 37596007.
    Citations: 13
    Fields: NeuNeurologyTranslation:Humans
  15. Frazier ZJ, Brown E, Rockowitz S, Lee T, Zhang B, Sveden A, Chamberlin NL, Dies KA, Poduri A, Sliz P, Chopra M. Toward representative genomic research: the children's rare disease cohorts experience. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040231181406. PMID: 37621556; PMCID: PMC10445838.
    Citations: 4
  16. 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. Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies. J Allergy Clin Immunol Pract. 2023 11; 11(11):3391-3399.e3. PMID: 37544429; PMCID: PMC10839118.
    Citations: 2
    Fields: AllAllergy and ImmunologyTranslation:HumansCells
  17. 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. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. PMID: 37471090; PMCID: PMC10359957.
    Citations: 9
    Fields: MedMedicine (General)Translation:Humans
  18. Nguyen AA, Habiballah SB, LaBere B, Day-Lewis M, Elkins M, Al-Musa A, Chu A, Jones J, Fried AJ, McDonald D, van Konijnenburg DPH, Rockowitz S, Sliz P, Oettgen HC, Schneider LC, MacGinnitie A, Bartnikas LM, Platt CD, Ohsumi TK, Chou J. Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies. medRxiv. 2023 Jun 05. PMID: 37333367; PMCID: PMC10275008.
    Citations:
  19. Dias CM, Issac B, Sun L, Lukowicz A, Talukdar M, Akula SK, Miller MB, Walsh K, Rockowitz S, Walsh CA. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2023 06 06; 120(23):e2300052120. PMID: 37252957; PMCID: PMC10265985.
    Citations: 9
    Fields: SciScienceTranslation:HumansCells
  20. Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA. Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes (Basel). 2023 03 23; 14(4). PMID: 37107537; PMCID: PMC10138040.
    Citations: 2
    Fields: GenGeneticsTranslation:Humans
  21. Guo C, Meza-Sosa KF, Valle-Garcia D, Zhao G, Gao K, Yu L, Zhang H, Chen Y, Sun L, Rockowitz S, Wang S, Jiang S, Lieberman J. The SET oncoprotein promotes estrogen-induced transcription by facilitating establishment of active chromatin. Proc Natl Acad Sci U S A. 2023 02 21; 120(8):e2206878120. PMID: 36791099; PMCID: PMC9974495.
    Citations: 1
    Fields: SciScienceTranslation:Cells
  22. 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. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2023 Mar; 4(1):2200013. PMID: 36910591; PMCID: PMC10000272.
    Citations: 2
  23. Aktas RG, Karski M, Issac B, Sun L, Rockowitz S, Sliz P, Vakili K. Long-Term Characteristics of Human-Derived Biliary Organoids under a Single Continuous Culture Condition. Cells. 2022 Nov 27; 11(23). PMID: 36497057; PMCID: PMC9741396.
    Citations: 1
    Fields: BioBiophysicsCelCell BiologyMolMolecular BiologyTranslation:HumansCells
  24. 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. Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2022 Sep 08; 16(9):1380-1396. PMID: 35366317; PMCID: PMC9455789.
    Citations: 11
    Fields: GasGastroenterologyTranslation:Humans
  25. Leyva-Castillo JM, Sun L, Wu SY, Rockowitz S, Sliz P, Geha RS. Single-cell transcriptome profile of mouse skin undergoing antigen-driven allergic inflammation recapitulates findings in atopic dermatitis skin lesions. J Allergy Clin Immunol. 2022 08; 150(2):373-384. PMID: 35300986; PMCID: PMC9378429.
    Citations: 16
    Fields: AllAllergy and ImmunologyTranslation:HumansAnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.