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American Journal of Medical Genetics. Part A|April 29, 2010
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genesJean-Baptiste Lepichon, Douglas C Bittel, William D Graf, et al.
European Journal of Medical Genetics|December 15, 2010
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delayAhmed T Abdelmoity, John J Hall, Douglas C Bittel, et al.
Cells|September 27, 2014
MicroRNA-421 Dysregulation is Associated with Tetralogy of FallotDouglas C Bittel, Nataliya Kibiryeva, Jennifer A Marshall, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjectsMerlin G Butler, Mariana F Theodoro, Douglas C Bittel, et al.
Plos One|December 6, 2019
Snord94 expression level alters methylation at C62 in snRNA U6Allison Ogren, Nataliya Kibiryeva, Jennifer Marshall, et al.
Pediatrics|March 3, 2004
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomyMerlin G Butler, Douglas C Bittel, Nataliya Kibiryeva, et al.
Genomics|December 21, 2004
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPDDouglas C Bittel, Nataliya Kibiryeva, Zohreh Talebizadeh, et al.
Pediatric Cardiology|January 19, 2020
scaRNA1 Levels Alter Pseudouridylation in Spliceosomal RNA U2 Affecting Alternative mRNA Splicing and Embryonic DevelopmentChloe K Nagasawa, Nataliya Kibiryeva, Jennifer Marshall, et al.
American Journal of Clinical Pathology|August 19, 2009
Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosisShihui Yu, Douglas C Bittel, Nataliya Kibiryeva, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotypeMerlin G Butler, Douglas C Bittel, Nataliya Kibiryeva, et al.
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