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Page 1
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: ware sm. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects.
Durbin MD, Fairman K, Helvaty LR, Huang M, Li M, Abreu D, Geddes GC, Helm BM, Landis BJ, McEntire A, Mitchell DK, Ware SM. Durbin MD, et al. Among authors: ware sm. J Pediatr. 2023 Sep;260:113495. doi: 10.1016/j.jpeds.2023.113495. Epub 2023 May 20. J Pediatr. 2023. PMID: 37211210 Free PMC article.
MEK Inhibition Improves Cardiomyopathy in Costello Syndrome.
Geddes GC, Parent JJ, Lander J, Jeewa A, Ware SM, Villa C, Chatfield KC, Weaver KN. Geddes GC, et al. Among authors: ware sm. J Am Coll Cardiol. 2023 Apr 11;81(14):1439-1441. doi: 10.1016/j.jacc.2023.02.010. J Am Coll Cardiol. 2023. PMID: 37019585 Free article. No abstract available.
Progressive Left Ventricular Remodeling for Predicting Mortality in Children With Dilated Cardiomyopathy: The Pediatric Cardiomyopathy Registry.
Kantor PF, Shi L, Colan SD, Orav EJ, Wilkinson JD, Hamza TH, Webber SA, Canter CE, Towbin JA, Everitt MD, Pahl E, Ware SM, Rusconi PG, Lamour JM, Jefferies JL, Addonizio LJ, Lipshultz SE; Pediatric Cardiomyopathy Registry Investigators*. Kantor PF, et al. Among authors: ware sm. J Am Heart Assoc. 2024 Jan 16;13(2):e022557. doi: 10.1161/JAHA.121.022557. Epub 2024 Jan 12. J Am Heart Assoc. 2024. PMID: 38214257 Free PMC article.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Landis BJ, Helvaty LR, Geddes GC, Lin JI, Yatsenko SA, Lo CW, Border WL, Wechsler SB, Murali CN, Azamian MS, Lalani SR, Hinton RB, Garg V, McBride KL, Hodge JC, Ware SM. Landis BJ, et al. Among authors: ware sm. J Am Heart Assoc. 2023 Sep 19;12(18):e029340. doi: 10.1161/JAHA.123.029340. Epub 2023 Sep 8. J Am Heart Assoc. 2023. PMID: 37681527 Free PMC article.
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: ware sm. 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
137 results