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Page 1
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG. Ramsbottom SA, et al. Among authors: spiewak hl. Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1113-1118. doi: 10.1073/pnas.1912602117. Epub 2019 Dec 26. Proc Natl Acad Sci U S A. 2020. PMID: 31879347 Free PMC article.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Schönauer R, et al. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18. Am J Hum Genet. 2023. PMID: 37207645 Free PMC article.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O'Brien O, Spiewak H, Waltham A, McAnulty C, Izuogu OG, Arends MJ, Oniscu A, Alonso AM, Laguna SM, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. Gallon R, et al. Hum Mutat. 2020 Jan;41(1):332-341. doi: 10.1002/humu.23906. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31471937 Free PMC article.
A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening.
Gallon R, Herrero-Belmonte P, Phelps R, Hayes C, Sollars E, Egan D, Spiewak H, Nalty S, Mills S, Loo PS, Borthwick GM, Santibanez-Koref M, Burn J, McAnulty C, Jackson MS. Gallon R, et al. BJC Rep. 2024;2(1):48. doi: 10.1038/s44276-024-00072-8. Epub 2024 Jul 1. BJC Rep. 2024. PMID: 38962168 Free PMC article.
Structural insights into the function of type VI secretion system TssA subunits.
Dix SR, Owen HJ, Sun R, Ahmad A, Shastri S, Spiewak HL, Mosby DJ, Harris MJ, Batters SL, Brooker TA, Tzokov SB, Sedelnikova SE, Baker PJ, Bullough PA, Rice DW, Thomas MS. Dix SR, et al. Among authors: spiewak hl. Nat Commun. 2018 Nov 12;9(1):4765. doi: 10.1038/s41467-018-07247-1. Nat Commun. 2018. PMID: 30420757 Free PMC article.