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Year Number of Results
2018 13
2019 7
2020 9
2021 5
2022 4
2023 5
2024 2

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41 results

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Page 1
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
A human embryonic limb cell atlas resolved in space and time.
Zhang B, He P, Lawrence JEG, Wang S, Tuck E, Williams BA, Roberts K, Kleshchevnikov V, Mamanova L, Bolt L, Polanski K, Li T, Elmentaite R, Fasouli ES, Prete M, He X, Yayon N, Fu Y, Yang H, Liang C, Zhang H, Blain R, Chedotal A, FitzPatrick DR, Firth H, Dean A, Bayraktar OA, Marioni JC, Barker RA, Storer MA, Wold BJ, Zhang H, Teichmann SA. Zhang B, et al. Nature. 2023 Dec 6. doi: 10.1038/s41586-023-06806-x. Online ahead of print. Nature. 2023. PMID: 38057666
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall HN, Parry D, Halachev M, Williamson KA, Donnelly K, Campos Parada J, Bhatia S, Joseph J, Holden S, Prescott TE, Bitoun P, Kirk EP, Newbury-Ecob R, Lachlan K, Bernar J, van Heyningen V, FitzPatrick DR, Meynert A. Hall HN, et al. J Med Genet. 2024 Feb 21;61(3):250-261. doi: 10.1136/jmg-2023-109181. J Med Genet. 2024. PMID: 38050128 Free article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. Lenassi E, et al. J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. J Med Genet. 2023. PMID: 36669873 Free PMC article.
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.
Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse.
Hernandez-Moran BA, Papanastasiou AS, Parry D, Meynert A, Gautier P, Grimes G, Adams IR, Trejo-Reveles V, Bengani H, Keighren M, Jackson IJ, Adams DJ, FitzPatrick DR, Rainger J. Hernandez-Moran BA, et al. Genes (Basel). 2022 Oct 5;13(10):1797. doi: 10.3390/genes13101797. Genes (Basel). 2022. PMID: 36292683 Free PMC article.
41 results