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A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Cope HL, Milko LV, Jalazo ER, Crissman BG, Foreman AKM, Powell BC, deJong NA, Hunter JE, Boyea BL, Forsythe AN, Wheeler AC, Zimmerman RS, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Hruska KS, Kruszka P, Kucera KS, Berg JS, Powell CM, Peay HL. Cope HL, et al. Among authors: hruska ks. Genet Med. 2024 Oct 5;26(12):101290. doi: 10.1016/j.gim.2024.101290. Online ahead of print. Genet Med. 2024. PMID: 39375994
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: hruska ks. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Fortuno C, Michailidou K, Parsons M, Dolinsky JS, Pesaran T, Yussuf A, Mester JL, Hruska KS, Hiraki S, O'Connor R, Chan RC, Kim S, Tavtigian SV, Goldgar D, James PA, Spurdle AB. Fortuno C, et al. Among authors: hruska ks. Hum Mol Genet. 2024 Apr 8;33(8):724-732. doi: 10.1093/hmg/ddae009. Hum Mol Genet. 2024. PMID: 38271184
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. Hu C, et al. Among authors: hruska ks. Cancer Res. 2023 Aug 1;83(15):2557-2571. doi: 10.1158/0008-5472.CAN-22-2319. Cancer Res. 2023. PMID: 37253112 Free PMC article.
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ. Hu C, et al. Among authors: hruska ks. Clin Cancer Res. 2022 Sep 1;28(17):3742-3751. doi: 10.1158/1078-0432.CCR-22-0203. Clin Cancer Res. 2022. PMID: 35736817 Free PMC article.
40 results