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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
MITF E318K: A rare homozygous case with multiple primary melanoma.
Wallingford CK, Maas EJ, Howard A, DeBortoli E, Bhanja D, Lee K, Mothershaw A, Jagirdar K, Willett R, Betz-Stablein B, Sturm RA, Soyer HP, McInerney-Leo AM. Wallingford CK, et al. Among authors: mcinerney leo am. Pigment Cell Melanoma Res. 2024 Jan;37(1):68-73. doi: 10.1111/pcmr.13122. Epub 2023 Aug 27. Pigment Cell Melanoma Res. 2024. PMID: 37635363
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Wallingford CK, Demeshko A, Krishnakripa AK, Smit DJ, Duffy DL, Betz-Stablein B, Pflugfelder A, Jagirdar K, Holland E, Mann GJ, Primiero CA, Yanes T, Malvehy J, Badenas C, Carrera C, Aguilera P, Olsen CM, Ward SV, Haass NK, Sturm RA, Puig S, Whiteman DC, Law MH, Cust AE, Potrony M, Soyer HP, McInerney-Leo AM. Wallingford CK, et al. Br J Dermatol. 2023 May 24;188(6):770-776. doi: 10.1093/bjd/ljad041. Br J Dermatol. 2023. PMID: 36879448 Free PMC article.
GOLM1: expanding our understanding of melanoma susceptibility.
Maas EJ, Wallingford CK, DeBortoli E, Smit DJ, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: mcinerney leo am. J Med Genet. 2023 Sep;60(9):835-837. doi: 10.1136/jmg-2023-109348. Epub 2023 Jul 24. J Med Genet. 2023. PMID: 37487699 No abstract available.
Measurable outcomes of consumer engagement in health research: A scoping review.
DeBortoli E, Soyer HP, Milne D, Dissanayaka N, Gartner C, Holt J, Rae K, Robison L, Wallingford CK, McInerney-Leo AM. DeBortoli E, et al. Front Public Health. 2022 Oct 17;10:994547. doi: 10.3389/fpubh.2022.994547. eCollection 2022. Front Public Health. 2022. PMID: 36324444 Free PMC article.
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