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Page 1
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Am… See abstract for full author list ➔ Castilla-Vallmanya L, et al. Among authors: christensen km. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. Genet Med. 2020. PMID: 32376980 Free PMC article.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Bennett JT, et al. Among authors: christensen km. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006. Am J Hum Genet. 2016. PMID: 26942290 Free PMC article.
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Laney DA, et al. Among authors: christensen km. Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232851 Free article. Review.
[No title available]
[No authors listed] [No authors listed] PMID: 33561022
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK, Charrow J, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hitchins L, Hickey R, Christensen KM, Groepper D, Shryock H, Smith P, Shao R, Basheeruddin K. Burton BK, et al. Among authors: christensen km. Int J Neonatal Screen. 2020 Jan 21;6(1):4. doi: 10.3390/ijns6010004. eCollection 2020 Mar. Int J Neonatal Screen. 2020. PMID: 33073003 Free PMC article.
Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Burton BK, Shively V, Quadri A, Warn L, Burton J, Grange DK, Christensen K, Groepper D, Ashbaugh L, Ehrhardt J, Basheeruddin K. Burton BK, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107557. doi: 10.1016/j.ymgme.2023.107557. Epub 2023 Mar 6. Mol Genet Metab. 2023. PMID: 36907694
55 results