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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2022
Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disordersCaroline Astbury, Judith Benkendorf, Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Newborn screening residual dried blood spot use for newborn screening quality improvementJudith Benkendorf, Taylor Goodspeed, Michael S WatsonClinics in Laboratory Medicine|November 29, 2011
Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridizationRobert E Pyatt, Caroline AstburyGenetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
The medical genetics workforce: an analysis of clinical geneticist subgroupsJudith A Cooksey, Gaetano Forte, Patricia A Flanagan, et al.European Journal of Medical Genetics|September 17, 2016
17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case reportRohan K Henry, Caroline Astbury, Constantine A Stratakis, et al.Cancer Genetics and Cytogenetics|February 13, 2003
A novel tumorigenic human prostate epithelial cell line (M2205): molecular cytogenetic characterization demonstrates C-MYC amplification and jumping translocationsColleen Jackson-Cook, Ying Zou, Kristi Turner, et al.European Journal of Medical Genetics|February 7, 2020
Further evidence of GABRA4 and TOP3B as autism susceptibility genesJacquelyn D Riley, Carol Delahunty, Adnan Alsadah, et al.Human Pathology|August 15, 2021
MDM2 amplification in malignant Brenner tumors may play a role in progression to malignancy and aid in separation from urothelial and other ovarian carcinomasSindhu Shetty, Omar Habeeb, Christine Rivera, et al.The Journal of Molecular Diagnostics : JMD|August 9, 2008
A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction siteShujian Liang, Harold N Bass, Hanlin Gao, et al.Case Reports in Genetics|August 21, 2019
Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical FeaturesJacquelyn D Riley, Catherine M Stefaniuk, Francine Erenberg, et al.Pageof 6