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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Genet Med. 2015 Jul;17(7):578-86. doi: 10.1038/gim.2014.154. Epub 2014 Nov 13.
Genet Med. 2015.
PMID: 25356970
Free article.
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.
LaDuca H, et al.
Genet Med. 2014 Nov;16(11):830-7. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.
Genet Med. 2014.
PMID: 24763289
Free PMC article.
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Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S.
Gandomi SK, et al.
J Genet Couns. 2014 Jun;23(3):289-98. doi: 10.1007/s10897-013-9671-6. Epub 2013 Dec 4.
J Genet Couns. 2014.
PMID: 24306141
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Clinical report of a 17q12 microdeletion with additionally unreported clinical features.
Roberts JL, Gandomi SK, Parra M, Lu I, Gau CL, Dasouki M, Butler MG.
Roberts JL, et al. Among authors: gandomi sk.
Case Rep Genet. 2014;2014:264947. doi: 10.1155/2014/264947. Epub 2014 Jun 2.
Case Rep Genet. 2014.
PMID: 24991439
Free PMC article.
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Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
Gandomi SK, Parra M, Reeves D, Yap V, Gau CL.
Gandomi SK, et al.
Clin Genet. 2015;87(1):80-4. doi: 10.1111/cge.12328. Epub 2013 Dec 20.
Clin Genet. 2015.
PMID: 24266672
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