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

Year Number of Results
2012 1
2013 17
2014 18
2015 18
2016 16
2017 7
2018 4
2019 7
2020 8
2021 3
2022 4
2023 2
2024 0

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93 results

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Page 1
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR. Hall HN, et al. PLoS One. 2022 Nov 22;17(11):e0268149. doi: 10.1371/journal.pone.0268149. eCollection 2022. PLoS One. 2022. PMID: 36413568 Free PMC article.
Whole-genome risk prediction of common diseases in human preimplantation embryos.
Kumar A, Im K, Banjevic M, Ng PC, Tunstall T, Garcia G, Galhardo L, Sun J, Schaedel ON, Levy B, Hongo D, Kijacic D, Kiehl M, Tran ND, Klatsky PC, Rabinowitz M. Kumar A, et al. Nat Med. 2022 Mar;28(3):513-516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21. Nat Med. 2022. PMID: 35314819 Free PMC article.
Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.
O'Connor MJ, Schroeder P, Huerta-Chagoya A, Cortés-Sánchez P, Bonàs-Guarch S, Guindo-Martínez M, Cole JB, Kaur V, Torrents D, Veerapen K, Grarup N, Kurki M, Rundsten CF, Pedersen O, Brandslund I, Linneberg A, Hansen T, Leong A, Florez JC, Mercader JM. O'Connor MJ, et al. Diabetes. 2022 Mar 1;71(3):554-565. doi: 10.2337/db21-0545. Diabetes. 2022. PMID: 34862199 Free PMC article.
The impact of non-additive genetic associations on age-related complex diseases.
Guindo-Martínez M, Amela R, Bonàs-Guarch S, Puiggròs M, Salvoro C, Miguel-Escalada I, Carey CE, Cole JB, Rüeger S, Atkinson E, Leong A, Sanchez F, Ramon-Cortes C, Ejarque J, Palmer DS, Kurki M; FinnGen Consortium; Aragam K, Florez JC, Badia RM, Mercader JM, Torrents D. Guindo-Martínez M, et al. Nat Commun. 2021 Apr 23;12(1):2436. doi: 10.1038/s41467-021-21952-4. Nat Commun. 2021. PMID: 33893285 Free PMC article.
Shared genomic segment analysis with equivalence testing.
Horpaopan S, Fann CSJ, Lathrop M, Ott J. Horpaopan S, et al. Genet Epidemiol. 2020 Oct;44(7):741-747. doi: 10.1002/gepi.22335. Epub 2020 Jul 16. Genet Epidemiol. 2020. PMID: 32677112 Free PMC article.
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E, Pathan S, Ashford S, Bochukova EG, Mistry V, Daly A, Hayward C; INTERVAL, UK10K Consortium; Wareham NJ, O'Rahilly S, Langenberg C, Wheeler E, Zeggini E, Farooqi IS, Barroso I. Marenne G, et al. Cell Metab. 2020 Jun 2;31(6):1107-1119.e12. doi: 10.1016/j.cmet.2020.05.007. Cell Metab. 2020. PMID: 32492392 Free PMC article.
93 results