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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Prenat Diagn. 2015 Nov;35(11):1073-8. doi: 10.1002/pd.4648. Epub 2015 Aug 3.
Prenat Diagn. 2015.
PMID: 26147564
Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.
Powis Z, Farwell KD, Alamillo CL, Tang S.
Powis Z, et al. Among authors: alamillo cl.
J Hum Genet. 2016 Feb;61(2):173-5. doi: 10.1038/jhg.2015.125. Epub 2015 Oct 22.
J Hum Genet. 2016.
PMID: 26490185
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Clinical whole-exome sequencing results impact medical management.
Niguidula N, Alamillo C, Shahmirzadi Mowlavi L, Powis Z, Cohen JS, Farwell Hagman KD.
Niguidula N, et al.
Mol Genet Genomic Med. 2018 Nov;6(6):1068-1078. doi: 10.1002/mgg3.484. Epub 2018 Oct 14.
Mol Genet Genomic Med. 2018.
PMID: 30318729
Free PMC article.
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Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.
Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S.
Powis Z, et al. Among authors: alamillo cl.
Pediatr Dev Pathol. 2018 May-Jun;21(3):319-323. doi: 10.1177/1093526617698611. Epub 2017 Mar 23.
Pediatr Dev Pathol. 2018.
PMID: 29187032
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