|A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster|
LT Reiter, L Potocki, S Chien, M Gribskov, E Bier
Genome research 11 (6), 1114-1125, 2001
|A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element|
LT Reiter, T Murakami, T Koeuth, L Pentao, DM Muzny, RA Gibbs, ...
Nature genetics 12 (3), 288-297, 1996
|Homophila: human disease gene cognates in Drosophila|
S Chien, LT Reiter, E Bier, M Gribskov
Nucleic acids research 30 (1), 149-151, 2002
|Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients|
LT Reiter, PJ Hastings, E Nelis, P De Jonghe, C Van Broeckhoven, ...
The American Journal of Human Genetics 62 (5), 1023-1033, 1998
|The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes|
K Inoue, K Dewar, N Katsanis, LT Reiter, ES Lander, KL Devon, ...
Genome research 11 (6), 1018-1033, 2001
|The interstitial duplication 15q11. 2‐q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature|
N Urraca, J Cleary, V Brewer, EK Pivnick, K McVicar, RL Thibert, ...
Autism Research 6 (4), 268-279, 2013
|Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors|
DH Heck, Y Zhao, S Roy, MS LeDoux, LT Reiter
Human molecular genetics 17 (14), 2181-2189, 2008
|Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase|
LT Reiter, TN Seagroves, M Bowers, E Bier
Human molecular genetics 15 (18), 2825-2835, 2006
|The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs|
LT Reiter, T Murakami, T Koeuth, RA Gibbs, JR Lupski
Human molecular genetics 6 (9), 1595-1603, 1997
|Charcot-Marie-Tooth disease and related inherited neuropathies.|
T Murakami, CA Garcia, LT Reiter, JR Lupski
Medicine 75 (5), 233-250, 1996
|Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders|
JM LaSalle, LT Reiter, SJ Chamberlain
Epigenomics 7 (7), 1213-1228, 2015
|Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13. 1|
ND Germain, PF Chen, AM Plocik, H Glatt-Deeley, J Brown, JJ Fink, ...
Molecular autism 5 (1), 1-19, 2014
|Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.|
V Timmerman, B Rautenstrauss, LT Reiter, T Koeuth, A Löfgren, T Liehr, ...
Journal of medical genetics 34 (1), 43-49, 1997
|A survey of seizures and current treatments in 15q duplication syndrome|
KD Conant, B Finucane, N Cleary, A Martin, C Muss, M Delany, ...
Epilepsia 55 (3), 396-402, 2014
|Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples|
HA Scoles, N Urraca, SW Chadwick, LT Reiter, JM LaSalle
Molecular autism 2 (1), 1-15, 2011
|Using Drosophila melanogaster to uncover human disease gene function and potential drug target proteins|
E Bier, LT Reiter
Expert opinion on therapeutic targets 6 (3), 387-399, 2002
|15q duplication syndrome and related disorders|
BM Finucane, L Lusk, D Arkilo, S Chamberlain, O Devinsky, S Dindot, ...
|Molecular mechanisms for CMT1A duplication and HNPP deletion|
CF Boerkoel, K Inoue, LT Reiter, LE Warner, JR Lupski
Annals of the New York Academy of Sciences 883 (1), 22-35, 1999
|Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis|
L Jensen, MF Farook, LT Reiter
PloS one 8 (4), e61952, 2013
|Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome|
C DiStefano, A Gulsrud, S Huberty, C Kasari, E Cook, LT Reiter, R Thibert, ...
Journal of neurodevelopmental disorders 8 (1), 1-13, 2016