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List of works by Samuel P Strom

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

scientific article published on 9 January 2014

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

scientific article

Disease gene characterization through large-scale co-expression analysis

scientific article

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care

scientific article published on 08 September 2018

Molecular diagnosis of putative Stargardt disease probands by exome sequencing ⬇️

scientific article published on August 3, 2012

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism

scientific article published on 21 February 2020

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

scientific article published on 20 January 2014

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