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251 results

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Page 1
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. Vieira AR, et al. Among authors: fitzpatrick dr. PLoS Genet. 2005 Dec;1(6):e64. doi: 10.1371/journal.pgen.0010064. Epub 2005 Dec 2. PLoS Genet. 2005. PMID: 16327884 Free PMC article.
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. Rahimov F, et al. Among authors: fitzpatrick dr. Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836445 Free PMC article.
Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study.
Mossey PA, Little J, Steegers-Theunissen R, Molloy A, Peterlin B, Shaw WC, Johnson C, FitzPatrick DR, Franceschelli P, Rubini M. Mossey PA, et al. Among authors: fitzpatrick dr. Cleft Palate Craniofac J. 2017 Nov;54(6):623-630. doi: 10.1597/16-037. Epub 2016 Dec 20. Cleft Palate Craniofac J. 2017. PMID: 27996298
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. Among authors: fitzpatrick dr. 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. Among authors: fitzpatrick dr. 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. Among authors: fitzpatrick dr. J Med Genet. 2024 Feb 21;61(3):250-261. doi: 10.1136/jmg-2023-109181. J Med Genet. 2024. PMID: 38050128 Free article.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant 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, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: fitzpatrick dr. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. PMID: 37808847 Free PMC article. Updated. Preprint.
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. Among authors: fitzpatrick dr. 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.
251 results