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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: doyle s. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Lithium Use in Pregnancy.
Doyle S, Green AJ. Doyle S, et al. Ir Med J. 2018 Jan 10;111(1):666. Ir Med J. 2018. PMID: 29869847 No abstract available.
Multi-Organ Dysfunction in Cerebral Palsy.
Allen J, Zareen Z, Doyle S, Whitla L, Afzal Z, Stack M, Franklin O, Green A, James A, Leahy TR, Quinn S, Elnazir B, Russell J, Paran S, Kiely P, Roche EF, McDonnell C, Baker L, Hensey O, Gibson L, Kelly S, McDonald D, Molloy EJ. Allen J, et al. Among authors: doyle s. Front Pediatr. 2021 Aug 9;9:668544. doi: 10.3389/fped.2021.668544. eCollection 2021. Front Pediatr. 2021. PMID: 34434904 Free PMC article. Review.
The prenatal exome - a door to prenatal diagnostics?
Castleman JS, Wall E, Allen S, Williams D, Doyle S, Kilby MD. Castleman JS, et al. Among authors: doyle s. Expert Rev Mol Diagn. 2021 May;21(5):465-474. doi: 10.1080/14737159.2021.1920398. Epub 2021 May 6. Expert Rev Mol Diagn. 2021. PMID: 33877000 Review.
A case of Costello syndrome diagnosed by trio whole exome sequencing.
McDermott H, Karkhanis P, Doyle S, Gowda H. McDermott H, et al. Among authors: doyle s. J Obstet Gynaecol. 2022 Aug;42(6):2498-2501. doi: 10.1080/01443615.2022.2034764. Epub 2022 Mar 7. J Obstet Gynaecol. 2022. PMID: 35254197 No abstract available.
913 results