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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Among authors: kranz pg. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
Evidence-based clinical practice guidelines on postdural puncture headache: a consensus report from a multisociety international working group.
Uppal V, Russell R, Sondekoppam RV, Ansari J, Baber Z, Chen Y, DelPizzo K, Dirzu DS, Kalagara H, Kissoon NR, Kranz PG, Leffert L, Lim G, Lobo C, Lucas DN, Moka E, Rodriguez SE, Sehmbi H, Vallejo MC, Volk T, Narouze S. Uppal V, et al. Among authors: kranz pg. Reg Anesth Pain Med. 2024 Jul 8;49(7):471-501. doi: 10.1136/rapm-2023-104817. Reg Anesth Pain Med. 2024. PMID: 37582578
Multidisciplinary consensus guideline for the diagnosis and management of spontaneous intracranial hypotension.
Cheema S, Anderson J, Angus-Leppan H, Armstrong P, Butteriss D, Carlton Jones L, Choi D, Chotai A, D'Antona L, Davagnanam I, Davies B, Dorman PJ, Duncan C, Ellis S, Iodice V, Joy C, Lagrata S, Mead S, Morland D, Nissen J, Pople J, Redfern N, Sayal PP, Scoffings D, Secker R, Toma AK, Trevarthen T, Walkden J, Beck J, Kranz PG, Schievink W, Wang SJ, Matharu MS. Cheema S, et al. Among authors: kranz pg. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):835-843. doi: 10.1136/jnnp-2023-331166. Epub 2023 May 5. J Neurol Neurosurg Psychiatry. 2023. PMID: 37147116 Free PMC article.
Image-Guided Spine Interventions for Pain: Ongoing Controversies.
Peckham ME, Miller TS, Amrhein TJ, Hirsch JA, Kranz PG. Peckham ME, et al. Among authors: kranz pg. AJR Am J Roentgenol. 2023 May;220(5):736-745. doi: 10.2214/AJR.22.28643. Epub 2022 Dec 21. AJR Am J Roentgenol. 2023. PMID: 36541595
CT Myelography: How to Do It.
Cordeiro de Macedo Pontes Í, Leão Edelmuth DG, Takahara S, Noda Kihara Filho E, Lucato LT, Partezani Helito PV, Kranz PG. Cordeiro de Macedo Pontes Í, et al. Among authors: kranz pg. Radiographics. 2024 Jan;44(1):e230088. doi: 10.1148/rg.230088. Radiographics. 2024. PMID: 38096111 No abstract available.
Consensus Practice Guidelines on Postdural Puncture Headache From a Multisociety, International Working Group: A Summary Report.
Uppal V, Russell R, Sondekoppam R, Ansari J, Baber Z, Chen Y, DelPizzo K, Dîrzu DS, Kalagara H, Kissoon NR, Kranz PG, Leffert L, Lim G, Lobo CA, Lucas DN, Moka E, Rodriguez SE, Sehmbi H, Vallejo MC, Volk T, Narouze S. Uppal V, et al. Among authors: kranz pg. JAMA Netw Open. 2023 Aug 1;6(8):e2325387. doi: 10.1001/jamanetworkopen.2023.25387. JAMA Netw Open. 2023. PMID: 37581893 Free article.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: kranz pg. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
107 results