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Circulation. Cardiovascular Genetics|September 12, 2013
Effect of copy number variants on outcomes for infants with single ventricle heart defectsAbigail S Carey, Li Liang, Jonathan Edwards, et al.Clinical and Translational Science|September 15, 2020
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant DetectionStuart A Scott, Erick R Scott, Yoshinori Seki, et al.Molecular Genetics & Genomic Medicine|December 28, 2019
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patientsGidon Akler, Ashley H Birch, Nicole Schreiber-Agus, et al.Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.Nature Biotechnology|April 12, 2016
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseasesRong Chen, Lisong Shi, Jörg Hakenberg, et al.Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, et al.Cell Reports|October 13, 2015
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic LeukemiaSonia Mulero-Navarro, Ana Sevilla, Angel C Roman, et al.Pharmacogenomics|October 7, 2017
Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount SinaiStuart A Scott, Aniwaa Owusu Obeng, Mariana R Botton, et al.American Journal of Medical Genetics. Part A|December 23, 2022
Detection of mosaic variants using genome sequencing in a large pediatric cohortJacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, et al.Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.Pageof 7