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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Analysis of genotype-phenotype correlations in human holoprosencephalyBenjamin D Solomon, Sandra Mercier, Jorge I Vélez, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trioDale L Bodian, Benjamin D Solomon, Alina Khromykh, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 25, 2011
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate geneBenjamin D Solomon, Daniel E Pineda-Alvarez, Donald W Hadley, et al.
Molecular Syndromology|January 7, 2016
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective CareAlina Khromykh, Benjamin D Solomon, Dale L Bodian, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaBenjamin D Solomon, Daniel E Pineda-Alvarez, Joan Z Balog, et al.
Familial Cancer|January 4, 2019
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated PolyposisErin G Sutcliffe, Amanda Bartenbaker Thompson, Amy R Stettner, et al.
Plos Biology|June 21, 2019
Challenges and recommendations to improve the installability and archival stability of omics computational toolsSerghei Mangul, Thiago Mosqueiro, Richard J Abdill, et al.
European Journal of Medical Genetics|July 4, 2012
GWAS reveals new recessive loci associated with non-syndromic facial cleftingMauricio Camargo, Dora Rivera, Lina Moreno, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Utilization of genomic sequencing for population screening of immunodeficiencies in the newbornAshleigh R Pavey, Dale L Bodian, Thierry Vilboux, et al.
Nature Communications|January 20, 2016
New observations on maternal age effect on germline de novo mutationsWendy S W Wong, Benjamin D Solomon, Dale L Bodian, et al.
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