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Sarah H. Elsea
Sarah H. Elsea
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Mutations in RAI1 associated with Smith–Magenis syndrome
RE Slager, TL Newton, CN Vlangos, B Finucane, SH Elsea
Nature genetics 33 (4), 466-468, 2003
3912003
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
SR Williams, MA Aldred, VM Der Kaloustian, F Halal, G Gowans, ...
The American Journal of Human Genetics 87 (2), 219-228, 2010
3352010
Smith–Magenis syndrome
SH Elsea, S Girirajan
European Journal of Human Genetics 16 (4), 412-421, 2008
2842008
Assessment of 2q23. 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
ME Talkowski, SV Mullegama, JA Rosenfeld, BWM Van Bon, Y Shen, ...
The American Journal of human genetics 89 (4), 551-563, 2011
2332011
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
MJ Miller, AD Kennedy, AD Eckhart, LC Burrage, JE Wulff, LAD Miller, ...
Journal of inherited metabolic disease 38, 1029-1039, 2015
2002015
Genotype–phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11. 2 contribute to the clinical spectrum
S Girirajan, CN Vlangos, BB Szomju, E Edelman, CD Trevors, L Dupuis, ...
Genetics in Medicine 8 (7), 417-427, 2006
1892006
Gender, genotype, and phenotype differences in Smith–Magenis syndrome: A meta‐analysis of 105 cases
EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith, ...
Clinical genetics 71 (6), 540-550, 2007
1722007
Molecular analyses of 17p11. 2 deletions in 62 Smith-Magenis syndrome patients.
RC Juyal, LE Figuera, X Hauge, SH Elsea, JR Lupski, F Greenberg, ...
American journal of human genetics 58 (5), 998, 1996
1671996
Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast.
SH Elsea, N Osheroff, JL Nitiss
Journal of Biological Chemistry 267 (19), 13150-13153, 1992
1661992
Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia
FP Pankowicz, M Barzi, X Legras, L Hubert, T Mi, JA Tomolonis, ...
Nature communications 7 (1), 12642, 2016
1502016
Smith–Magenis Syndrome
ACM Smith, AL Gropman
Cassidy and Allanson's management of genetic syndromes, 863-893, 2021
1442021
RAI1 variations in Smith–Magenis syndrome patients without 17p11. 2 deletions
S Girirajan, LJ Elsas, K Devriendt, SH Elsea
Journal of medical genetics 42 (11), 820-828, 2005
1352005
The mousetrap: what we can learn when the mouse model does not mimic the human disease
SH Elsea, RE Lucas
ILAR journal 43 (2), 66-79, 2002
1302002
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity
SR Williams, D Zies, SV Mullegama, MS Grotewiel, SH Elsea
The American Journal of Human Genetics 90 (6), 941-949, 2012
1202012
Precision of a clinical metabolomics profiling platform for use in the identification of inborn errors of metabolism
L Ford, AD Kennedy, KD Goodman, KL Pappan, AM Evans, LAD Miller, ...
The Journal of Applied Laboratory Medicine 5 (2), 342-356, 2020
1122020
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of …
B Burns, K Schmidt, SR Williams, S Kim, S Girirajan, SH Elsea
Human molecular genetics 19 (20), 4026-4042, 2010
1102010
New developments in Smith-Magenis syndrome (del 17p11. 2)
AL Gropman, S Elsea, WC Duncan Jr, ACM Smith
Current Opinion in Neurology 20 (2), 125-134, 2007
1102007
A Yeast Type II Topoisomerase Selected for Resistance to Quinolones: MUTATION OF HISTIDINE 1012 TO TYROSINE CONFERS RESISTANCE TO NONINTERCALATIVE DRUGS BUT HYPERSENSITIVITY TO …
SH Elsea, Y Hsiung, JL Nitiss, N Osheroff
Journal of Biological Chemistry 270 (4), 1913-1920, 1995
1051995
Refinement of the Smith–Magenis syndrome critical region to∼ 950 kb and assessment of 17p11. 2 deletions. Are all deletions created equally?
CN Vlangos, DKC Yim, SH Elsea
Molecular genetics and metabolism 79 (2), 134-141, 2003
1032003
Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing
AD Kennedy, BM Wittmann, AM Evans, LAD Miller, DR Toal, S Lonergan, ...
Journal of Mass Spectrometry 53 (11), 1143-1154, 2018
962018
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