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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1948 1
1965 1
1974 1
1977 1
1979 1
1981 1
1982 2
1983 3
1984 2
1985 1
1986 1
1987 5
1989 2
1990 3
1991 3
1992 2
1993 3
1994 1
1995 1
1996 5
1997 1
1998 1
1999 4
2000 3
2003 3
2004 2
2005 1
2006 2
2007 1
2008 2
2009 2
2011 1
2013 4
2014 4
2015 6
2016 2
2017 6
2018 9
2019 7
2020 5
2021 9
2022 6
2023 16
2024 15
2025 6

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143 results

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Page 1
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. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 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.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: colley a. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ; kConFab. McCabe MJ, et al. Sci Rep. 2019 Nov 19;9(1):17052. doi: 10.1038/s41598-019-52000-3. Sci Rep. 2019. PMID: 31745186 Free PMC article.
Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group; Rudd MK. Goldlust IS, et al. Among authors: colley a. Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26. Proc Natl Acad Sci U S A. 2013. PMID: 23980137 Free PMC article.
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.
Watts GF, Sullivan DR, Hare DL, Kostner KM, Horton AE, Bell DA, Brett T, Trent RJ, Poplawski NK, Martin AC, Srinivasan S, Justo RN, Chow CK, Pang J; FH Australasia Network Consensus Working Group. Watts GF, et al. Heart Lung Circ. 2021 Mar;30(3):324-349. doi: 10.1016/j.hlc.2020.09.943. Epub 2020 Dec 9. Heart Lung Circ. 2021. PMID: 33309206 Free article. Review.
143 results