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Clinical Case Reports|June 8, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromesSureni V Mullegama, Phillip Jensik, Chen Li, et al.
Scientific Reports|October 29, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WESAwtum M Brashear, Anxhela G Gustafson, Andrew Quitadamo, et al.
BMC Cancer|January 31, 2015
TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancerAkop Seksenyan, Asha Kadavallore, Ann E Walts, et al.
BMC Medical Genetics|August 7, 2012
Molecular diagnosis of putative Stargardt Disease probands by exome sequencingSamuel P Strom, Yong-Qing Gao, Ariadna Martinez, et al.
Pediatric Blood & Cancer|September 1, 2016
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutationLaurel Truscott, Joanna Gell, Vivian Y Chang, et al.
The Journal of Molecular Diagnostics : JMD|February 25, 2020
The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline MosaicismCasey J Brewer, Meghan Gillespie, Joseph Fierro, et al.
Translational Vision Science & Technology|March 29, 2022
Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease PatientsAnna Matynia, Jun Wang, Sangbae Kim, et al.
Frontiers in Genetics|May 28, 2021
A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular DiagnosticsSamuel P Strom, Waheeda A Hossain, Melina Grigorian, et al.
Plos One|March 11, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaSamuel P Strom, Michael J Clark, Ariadna Martinez, et al.
BMC Medical Genetics|June 3, 2014
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencingSamuel P Strom, Reymundo Lozano, Hane Lee, et al.
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