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Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Geiger H, Felice V, Dikoglu E, Rahman S, Fang X, Vacic V, Bergmann EA, Moore Vogel JL, Reeves C, Khaira D, Calabro A, Kim D, Lamendola-Essel MF, Esteves C, Agius P, Stolte C, Boockvar J, Demopoulos A, Placantonakis DG, Golfinos JG, Brennan C, Bruce J, Lassman AB, Canoll P, Grommes C, Daras M, Diamond E, Omuro A, Pentsova E, Orange DE, Harvey SJ, Posner JB, Michelini VV, Jobanputra V, Zody MC, Kelly J, Parida L, Wrzeszczynski KO, Royyuru AK, Darnell RB. Frank MO, et al. Among authors: jobanputra v. BMC Med Genomics. 2019 Aug 2;12(1):114. doi: 10.1186/s12920-019-0563-y. BMC Med Genomics. 2019. PMID: 31375115 Free PMC article.
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Griffin EL, et al. Among authors: jobanputra v. Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21. Circ Genom Precis Med. 2023. PMID: 36803080 Free PMC article.
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Ganapathi M, Buchovecky CM, Cristo F, Ahimaz P, Ruzal-Shapiro C, Wou K, Inácio JM, Iglesias A, Belo JA, Jobanputra V. Ganapathi M, et al. Among authors: jobanputra v. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006248. doi: 10.1101/mcs.a006248. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36316122 Free PMC article.
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.
Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin EL, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor JW, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung WK. Lewis MJ, et al. Among authors: jobanputra v. Circ Genom Precis Med. 2023 Apr;16(2):e003900. doi: 10.1161/CIRCGEN.122.003900. Epub 2023 Mar 3. Circ Genom Precis Med. 2023. PMID: 36866680 Free PMC article. No abstract available.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. Spillmann RC, et al. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36481303 Free PMC article.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. Odgis JA, et al. Among authors: jobanputra v. Am J Med Genet A. 2023 Mar;191(3):699-710. doi: 10.1002/ajmg.a.63062. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36563179 Free PMC article.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Alkelai A, Greenbaum L, Shohat S, Povysil G, Malakar A, Ren Z, Motelow JE, Schechter T, Draiman B, Chitrit-Raveh E, Hughes D, Jobanputra V, Shifman S, Goldstein DB, Kohn Y. Alkelai A, et al. Among authors: jobanputra v. Schizophr Res. 2023 Feb;252:138-145. doi: 10.1016/j.schres.2022.12.033. Epub 2023 Jan 14. Schizophr Res. 2023. PMID: 36645932
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen E, Elemento O, Rosenquist R, Nikic S, IJzerman M, Zaleski ID, Frederix G, Levin LÅ, Mullighan CG, Buettner R, Pugh TJ, Grimmond S, Caldas C, Andre F, Custers I, Campo E, van Snellenberg H, Schuh A, Nakagawa H, von Kalle C, Haferlach T, Fröhling S, Jobanputra V. Cuppen E, et al. Among authors: jobanputra v. JCO Precis Oncol. 2022 Dec;6:e2200245. doi: 10.1200/PO.22.00245. JCO Precis Oncol. 2022. PMID: 36480778 Free PMC article. Review.
The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.
Basturk O, Tan M, Bhanot U, Allen P, Adsay V, Scott SN, Shah R, Berger MF, Askan G, Dikoglu E, Jobanputra V, Wrzeszczynski KO, Sigel C, Iacobuzio-Donahue C, Klimstra DS. Basturk O, et al. Among authors: jobanputra v. Mod Pathol. 2016 Sep;29(9):1058-69. doi: 10.1038/modpathol.2016.98. Epub 2016 Jun 10. Mod Pathol. 2016. PMID: 27282351 Free PMC article.
124 results