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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. McGregor L, et al. Among authors: shaw a. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, Bottani A, Dahoun S, Morris MA, Arsenault S, Aglan MS, Ajaz M, Alkalamchi A, Alnaqeb D, Alwasiyah MK, Anwer N, Awwad R, Bonnefin M, Corry P, Gwanmesia L, Karbani GA, Mostafavi M, Pippucci T, Ranza-Boscardin E, Reversade B, Sharif SM, Teeuw ME, Bittles AH. Hamamy H, et al. Among authors: shaw a. Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f. Genet Med. 2011. PMID: 21555946 Free article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Host-microbe multiomic profiling identifies distinct COVID-19 immune dysregulation in solid organ transplant recipients.
Pickering H, Schaenman J, Phan HV, Maguire C, Tsitsiklis A, Rouphael N, Higuita NIA, Atkinson MA, Brakenridge S, Fung M, Messer W; IMPACC Network; Salehi-Rad R, Altman MC, Becker PM, Bosinger SE, Eckalbar W, Hoch A, Doni Jayavelu N, Kim-Schulze S, Jenkins M, Kleinstein SH, Krammer F, Maecker HT, Ozonoff A, Diray-Arce J, Shaw A, Baden L, Levy O, Reed EF, Langelier CR. Pickering H, et al. Among authors: shaw a. Nat Commun. 2025 Jan 10;16(1):586. doi: 10.1038/s41467-025-55823-z. Nat Commun. 2025. PMID: 39794319 Free PMC article.
Long-Term Trajectories of Older Adults Served by an Emergency Department/Hospital-Based Elder Mistreatment Response Program.
Baek D, Gottesman E, Makaroun LK, Elman A, Stern ME, Shaw A, Mulcare MR, McAuley J, LoFaso VM, Itzkowitz J, Chang ES, Hancock D, Bloemen EM, Lindberg DM, Sharma R, Lachs MS, Pillemer K, Rosen T. Baek D, et al. Among authors: shaw a. J Am Geriatr Soc. 2025 Jan 7. doi: 10.1111/jgs.19351. Online ahead of print. J Am Geriatr Soc. 2025. PMID: 39775663
The Ontogeny of Attitudes Toward Migrants.
Santhanagopalan R, Hok H, Shaw A, Kinzler KD. Santhanagopalan R, et al. Among authors: shaw a. Dev Sci. 2025 Mar;28(2):e13599. doi: 10.1111/desc.13599. Dev Sci. 2025. PMID: 39737525 Free PMC article.
Nitrogen Deposition Weakens Soil Carbon Control of Nitrogen Dynamics Across the Contiguous United States.
Nieland MA, Lacy P, Allison SD, Bhatnagar JM, Doroski DA, Frey SD, Greaney K, Hobbie SE, Kuebbing SE, Lewis DB, McDaniel MD, Perakis SS, Raciti SM, Shaw AN, Sprunger CD, Strickland MS, Templer PH, Vietorisz C, Ward EB, Keiser AD. Nieland MA, et al. Among authors: shaw an. Glob Chang Biol. 2024 Dec;30(12):e70016. doi: 10.1111/gcb.70016. Glob Chang Biol. 2024. PMID: 39726151
3,288 results