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Neurogenetics|August 15, 2012
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive functionSandesh C S Nagamani, Ayelet Erez, Frank J Probst, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 3, 2012
Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivatorHarry J Han, Carolyn C Allen, Christie M Buchovecky, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardationFrank J Probst, Elizabeth R Roeder, Victoria B Enciso, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysisSirisha Peddibhotla, Mohamed Khalifa, Frank J Probst, et al.
BMC Medical Genetics|December 5, 2014
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAvinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Plos Genetics|December 17, 2009
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxinMelissa K Boles, Bonney M Wilkinson, Laurens G Wilming, et al.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
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