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A multi-disciplinary, comprehensive approach to management of children with heterotaxy.
Saba TG, Geddes GC, Ware SM, Schidlow DN, Del Nido PJ, Rubalcava NS, Gadepalli SK, Stillwell T, Griffiths A, Bennett Murphy LM, Barber AT, Leigh MW, Sabin N, Shapiro AJ. Saba TG, et al. Among authors: geddes gc. Orphanet J Rare Dis. 2022 Sep 9;17(1):351. doi: 10.1186/s13023-022-02515-2. Orphanet J Rare Dis. 2022. PMID: 36085154 Free PMC article. Review.
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. Huth EA, et al. Among authors: geddes gc. Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7. Eur J Hum Genet. 2023. PMID: 37673932 Free PMC article.
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.
Durbin MD, Helvaty LR, Li M, Border W, Fitzgerald-Butt S, Garg V, Geddes GC, Helm BM, Lalani SR, McBride KL, McEntire A, Mitchell DK, Murali CN, Wechsler SB, Landis BJ, Ware SM. Durbin MD, et al. Among authors: geddes gc. Genet Med Open. 2023 Apr 29;1(1):100814. doi: 10.1016/j.gimo.2023.100814. eCollection 2023. Genet Med Open. 2023. PMID: 39669248 Free PMC article.
42 results