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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, John T, Mullen S, White SM, Brown NJ, McGillivray G, Chen J, Richmond C, Hughes A, Krzesinski E, Fennell A, Chambers B, Santoreneos R, Le Fevre A, Hildebrand MS, Bahlo M, Christodoulou J, Delatycki M, Berkovic SF. Wallis M, et al. Among authors: bodek sd. Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. Orphanet J Rare Dis. 2024. PMID: 39095811 Free PMC article.
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Mallawaarachchi AC, Fowles L, Wardrop L, Wood A, O'Shea R, Biros E, Harris T, Alexander SI, Bodek S, Boudville N, Burke J, Burnett L, Casauria S, Chadban S, Chakera A, Crafter S, Dai P, De Fazio P, Faull R, Honda A, Huntley V, Jahan S, Jayasinghe K, Jose M, Leaver A, MacShane M, Madelli EO, Nicholls K, Pawlowski R, Rangan G, Snelling P, Soraru J, Sundaram M, Tchan M, Valente G, Wallis M, Wedd L, Welland M, Whitlam J, Wilkins EJ, McCarthy H, Simons C, Quinlan C, Patel C, Stark Z, Mallett AJ. Mallawaarachchi AC, et al. Clin J Am Soc Nephrol. 2024 Jul 1;19(7):887-897. doi: 10.2215/CJN.0000000000000464. Epub 2024 May 3. Clin J Am Soc Nephrol. 2024. PMID: 38861662
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.
Jayasinghe K, Biros E, Harris T, Wood A, O'Shea R, Hill L, Fowles L, Wardrop L, Shalhoub C, Hahn D, Rangan G, Kevin L, Tchan M, Snelling P, Sandow R, Sundaram M, Chaturvedi S, Trnka P, Faull R, Poplawski NK, Huntley V, Garza D, Wallis M, Jose M, Leaver A, Trainer AH, Wilkins EJ, White S, Elbaum Y, Prawer Y, Krzesinski E, Valente G, Winship I, Ryan J, Whitlam J, Nicholls K, West K, Donaldson L, Johnstone L, Lewit-Mendes M, Kerr PG, Bodek S, Chakera A, MacShane M, Mincham C, Stackpoole E, Willis F, Soraru J, Pachter N, Bennetts B, Forbes TA, Mallawaarachchi A, Quinlan C, Patel C, McCarthy H, Goranitis I, Best S, Alexander S, Stark Z, Mallett AJ. Jayasinghe K, et al. Kidney Int Rep. 2024 May 9;9(8):2372-2385. doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156154 Free PMC article.
Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk.
McDonald JA, Liao Y, Knight JA, John EM, Kurian AW, Daly M, Buys SS, Huang Y, Frost CJ, Andrulis IL, Colonna SV, Friedlander ML, Hopper JL, Chung WK, Genkinger JM, MacInnis RJ, Terry MB; Kathleen Cuningham Foundation Consortium investigators. McDonald JA, et al. JAMA Netw Open. 2024 Aug 1;7(8):e2427441. doi: 10.1001/jamanetworkopen.2024.27441. JAMA Netw Open. 2024. PMID: 39186276 Free article.
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2.
Phillips KA, Kotsopoulos J, Domchek SM, Terry MB, Chamberlain JA, Bassett JK, Aeilts AM, Andrulis IL, Buys SS, Cui W, Daly MB, Eisen AF, Foulkes WD, Friedlander ML, Gronwald J, Hopper JL, John EM, Karlan BY, Kim RH, Kurian AW, Lubinski J, Metcalfe K, Nathanson KL, Singer CF, Southey MC, Symecko H, Tung N, Narod SA, Milne RL; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry, and the Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry and the Breast Cancer Family Registry. Phillips KA, et al. J Clin Oncol. 2024 Oct 2:JCO2400176. doi: 10.1200/JCO.24.00176. Online ahead of print. J Clin Oncol. 2024. PMID: 39356978