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98 results

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Page 1
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M, Bouffler SE, Barnett CB, Freckmann ML, Hunter MF, Kamien B, Kassahn KS, Lunke S, Patel CV, Pinner J, Roscioli T, Sandaradura SA, Scott HS, Tan TY, Wallis M, Compton AG, Thorburn DR, Stark Z, Christodoulou J. Ball M, et al. Among authors: kassahn ks. Genet Med. 2025 Jan;27(1):101293. doi: 10.1016/j.gim.2024.101293. Epub 2024 Oct 15. Genet Med. 2025. PMID: 39417332
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.
Ashenden AJ, Chowdhury A, Anastasi LT, Lam K, Rozek T, Ranieri E, Siu CW, King J, Mas E, Kassahn KS. Ashenden AJ, et al. Among authors: kassahn ks. Int J Neonatal Screen. 2024 Jun 21;10(3):42. doi: 10.3390/ijns10030042. Int J Neonatal Screen. 2024. PMID: 39051398 Free PMC article. Review.
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: kassahn ks. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Best S, Fehlberg Z, Richards C, Quinn MCJ, Lunke S, Spurdle AB, Kassahn KS, Patel C, Vears DF, Goranitis I, Lynch F, Robertson A, Tudini E, Christodoulou J, Scott H, McGaughran J, Stark Z. Best S, et al. Among authors: kassahn ks. Eur J Hum Genet. 2024 Nov;32(11):1428-1435. doi: 10.1038/s41431-024-01633-8. Epub 2024 May 25. Eur J Hum Genet. 2024. PMID: 38796577 Free PMC article.
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Swift A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T, Krapels I, Hoeks M, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos AM, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez L, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K, Babic M, McGovern A, Rawlings L, Vakulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans M, Kuiper RP, Poplawski NK, Barbaro P, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: kassahn ks. Blood Adv. 2024 Jul 9;8(13):3437-3443. doi: 10.1182/bloodadvances.2023012331. Blood Adv. 2024. PMID: 38662475 Free PMC article. No abstract available.
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.
Rogers A, De Jong L, Waters W, Rawlings LH, Simons K, Gao S, Soubrier J, Kenyon R, Lin M, King R, Lawrence DM, Muller P, Leblanc S, McGregor L, Sallevelt SCEH, Liebelt J, Hardy TSE, Fletcher JM, Scott HS, Kulkarni A, Barnett CP, Kassahn KS. Rogers A, et al. Among authors: kassahn ks. Aust N Z J Obstet Gynaecol. 2024 Oct;64(5):467-474. doi: 10.1111/ajo.13814. Epub 2024 Apr 5. Aust N Z J Obstet Gynaecol. 2024. PMID: 38577897 Free PMC article.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Among authors: kassahn ks. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: kassahn ks. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.
Ghaoui R, Ha TT, Kerkhof J, McConkey H, Gao S, Babic M, King R, Ravenscroft G, Koszyca B, Otto S, Laing NG, Scott H, Sadikovic B, Kassahn KS. Ghaoui R, et al. Among authors: kassahn ks. Neuromuscul Disord. 2023 Jun;33(6):484-489. doi: 10.1016/j.nmd.2023.04.002. Epub 2023 Apr 4. Neuromuscul Disord. 2023. PMID: 37209493
98 results