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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: baker k. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, 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, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
Correction of the Bloom syndrome cellular phenotypes.
Giesler T, Baker K, Zhang B, McDaniel LD, Schultz RA. Giesler T, et al. Among authors: baker k. Somat Cell Mol Genet. 1997 Sep;23(5):303-12. doi: 10.1007/BF02674278. Somat Cell Mol Genet. 1997. PMID: 9546074
Prioritizing Poverty.
Baker K. Baker K. Gastroenterol Nurs. 2024 Nov-Dec 01;47(6):411-412. doi: 10.1097/SGA.0000000000000870. Epub 2024 Nov 26. Gastroenterol Nurs. 2024. PMID: 39714050 No abstract available.
Developing nurse and midwife centred rostering principles using co-design: a mixed-methods study.
Holton S, Rasmussen B, Long K, Bellizia M, Mathieson JC, Crowe S, Mill D, Pasion H, Rankin C, Woodhouse M, Douglas M, Glanville N, Baker K, Fallon K, Hoffmann M, Sliwa N, Heinjus D, Fitzpatrick L, Gilbert P. Holton S, et al. Among authors: baker k. BMC Nurs. 2024 Dec 20;23(1):938. doi: 10.1186/s12912-024-02522-7. BMC Nurs. 2024. PMID: 39707336 Free PMC article.
2,854 results