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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: boone pm. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Among authors: boone pm. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817 Free PMC article.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: boone pm. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. Boone PM, et al. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. Am J Respir Crit Care Med. 2019. PMID: 30681372 Free PMC article. Review.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: boone pm. Am J Hum Genet. 2024 Dec 5;111(12):2693-2706. doi: 10.1016/j.ajhg.2024.10.006. Epub 2024 Nov 8. Am J Hum Genet. 2024. PMID: 39520989 Free PMC article.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: boone pm. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
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. Ansari M, et al. Among authors: boone pm. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
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. French CE, et al. Among authors: boone pm. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Familial pneumothorax: towards precision medicine.
Scott RM, Henske EP, Raby B, Boone PM, Rusk RA, Marciniak SJ. Scott RM, et al. Among authors: boone pm. Thorax. 2018 Mar;73(3):270-276. doi: 10.1136/thoraxjnl-2017-211169. Epub 2017 Dec 28. Thorax. 2018. PMID: 29288214 Review.
38 results