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Page 1
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A, Somerville C, Arnaud P, Baudhuin LM, Hanna N, Kluge ML, Kotzer K, Boileau C, Bronicki L, Callewaert B, Cecchi A, Dietz H, Guo D, Harris S, Jarinova O, Lindsay M, Little L, Loeys B, MacCarrick G, Meester J, Milewicz D, Morisaki T, Morisaki H, Murdock D, Renard M, Richer J, Robert L, Ouzounian M, Van Laer L, De Backer J, Muiño-Mosquera L. Drackley A, et al. Among authors: somerville c. Genome Med. 2024 Dec 31;16(1):154. doi: 10.1186/s13073-024-01423-3. Genome Med. 2024. PMID: 39741318 Free PMC article.
Health care transition quadruple aim outcomes for IDD: Scoping review.
Fremion E, Irby K, Jan S, Somerville CS, Shanske S, Szalda D, Uluer A, Shah P. Fremion E, et al. Among authors: somerville cs. Health Care Transit. 2024 Aug 23;2:100067. doi: 10.1016/j.hctj.2024.100067. eCollection 2024. Health Care Transit. 2024. PMID: 39712598 Free PMC article. Review.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: somerville c. Eur J Hum Genet. 2024 Jul;32(7):795-803. doi: 10.1038/s41431-024-01629-4. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778082 Free PMC article.
Identification of pan-cancer/testis genes and validation of therapeutic targeting in triple-negative breast cancer: Lin28a-based and Siglece-based vaccination induces antitumor immunity and inhibits metastasis.
Carter JA, Matta B, Battaglia J, Somerville C, Harris BD, LaPan M, Atwal GS, Barnes BJ. Carter JA, et al. Among authors: somerville c. J Immunother Cancer. 2023 Dec 22;11(12):e007935. doi: 10.1136/jitc-2023-007935. J Immunother Cancer. 2023. PMID: 38135347 Free PMC article.
311 results