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Kidney International Reports|October 18, 2023
High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic SyndromeCathy Smith, Bala Bharathi Burugula, Ian Dunn, et al.
Human Gene Therapy|October 31, 2006
Molecular analysis of chromosomal rearrangements in mammalian cells after phiC31-mediated integrationAnja Ehrhardt, Jeffrey A Engler, Hui Xu, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?Anna-Kaisa Niemi, Andrea Kwan, Louanne Hudgins, et al.
American Journal of Medical Genetics. Part A|March 13, 2019
Acute leukemia in a patient with 15q overgrowth syndromeEthan E Bodle, Ridhi Gupta, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2018
Prevalence and properties of intragenic copy-number variation in Mendelian disease genesRebecca Truty, Joshua Paul, Michael Kennemer, et al.
American Journal of Medical Genetics. Part A|May 16, 2022
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significanceBritt Johnson, Karen Ouyang, Lauren Frank, et al.
Genes|December 24, 2021
X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3Petar Brlek, Darko Antičević, Vilim Molnar, et al.
European Journal of Medical Genetics|April 27, 2012
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphismDagur Ingi Jonsson, Petur Ludvigsson, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A novel variant in GABRB2 associated with intellectual disability and epilepsySiddharth Srivastava, Julie Cohen, Jonathan Pevsner, et al.
Immunologic Research|May 29, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatmentJessica Quinn, Vicki Modell, Jennifer Holle, et al.
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