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Human Molecular Genetics|June 24, 2010
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndromeStuart A Scott, Ninette Cohen, Tracy Brandt, et al.Pharmacogenomics|February 5, 2008
CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish populationStuart A Scott, Lisa Edelmann, Ruth Kornreich, et al.American Journal of Medical Genetics. Part A|December 22, 2024
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan AnemiaLisa M Karger, Bryn D Webb, Lisa Edelmann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2004
Cystic fibrosis carrier screening: validation of a novel method using BeadChip technologyLisa Edelmann, Ghazala Hashmi, Yuhua Song, et al.Proceedings of the National Academy of Sciences of the United States of America|March 10, 2010
Cis lethal genetic interactions attenuate and alter p53 tumorigenesisYuxun Wang, Weijia Zhang, Lisa Edelmann, et al.The Journal of Molecular Diagnostics : JMD|March 20, 2017
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNAJennifer Reiner, Lisa Karger, Ninette Cohen, et al.European Journal of Medical Genetics|September 24, 2013
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1Tracy Brandt, Leah Blanchard, Khyati Desai, et al.Journal of Medical Genetics|July 1, 2017
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneityBeom Hee Lee, Aneel Aggarwal, Anne Slavotinek, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2010
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridizationStuart A Scott, Ninette Cohen, Tracy Brandt, et al.Human Mutation|July 31, 2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseasesStuart A Scott, Lisa Edelmann, Liu Liu, et al.Pageof 7