|
🐢
|
Mutations in RAI1 associated with Smith–Magenis syndrome
R. Slager,
T. L. Newton,
C. Vlangos,
B. Finucane,
S. Elsea
|
8 |
2003 |
8
🐢
|
|
🐢
|
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
11 auth.
Stephen R. Williams,
M. Aldred,
V. Kaloustian,
V. Kaloustian,
F. Halal,
G. Gowans,
...
D. R. Mcleod,
Sara Zondag,
H. Toriello,
R. Magenis,
S. Elsea
|
8 |
2010 |
8
🐢
|
|
🐢
|
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
35 auth.
M. Talkowski,
Sureni V. Mullegama,
J. Rosenfeld,
B. V. van Bon,
Yiping Shen,
E. Repnikova,
J. Gastier-Foster,
D. Thrush,
S. Kathiresan,
D. Ruderfer,
Colby Chiang,
Carrie Hanscom,
C. Ernst,
Amelia M. Lindgren,
C. Morton,
...
Y. An,
C. Astbury,
L. Brueton,
K. Lichtenbelt,
L. Adès,
M. Fichera,
C. Romano,
J. Innis,
C. Williams,
D. Bartholomew,
M. V. Van Allen,
A. Parikh,
Lilei Zhang,
Bai-Lin Wu,
R. Pyatt,
S. Schwartz,
L. Shaffer,
B. D. de Vries,
J. Gusella,
S. Elsea
|
7 |
2011 |
7
🐢
|
|
🐢
|
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
12 auth.
Marcus J. Miller,
A. Kennedy,
A. Eckhart,
L. Burrage,
Jacob E. Wulff,
Luke A. D. Miller,
...
M. Milburn,
J. Ryals,
A. Beaudet,
Qin Sun,
V. Sutton,
S. Elsea
|
7 |
2015 |
7
🐢
|
|
🐢
|
Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases
8 auth.
E. A. Edelman,
S. Girirajan,
B. Finucane,
P. Patel,
J. Lupski,
Ann C M Smith,
...
Ann C M Smith,
S. Elsea
|
7 |
2007 |
7
🐢
|
|
🐢
|
Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
9 auth.
S. Girirajan,
C. Vlangos,
B. Szomju,
Emily Edelman,
Christopher D Trevors,
L. Dupuis,
...
M. Nezarati,
D. Bunyan,
S. Elsea
|
7 |
2006 |
7
🐢
|
|
🐜
|
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
8 auth.
R. Juyal,
L. Figuera,
X. Hauge,
S. Elsea,
J. Lupski,
F. Greenberg,
...
A. Baldini,
P. Patel
|
7 |
1996 |
7
🐜
|
|
🐢
|
RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions
S. Girirajan,
L. Elsas,
K. Devriendt,
S. Elsea
|
6 |
2005 |
6
🐢
|
|
🐜
|
Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia
14 auth.
Francis P. Pankowicz,
Mercedes Barzi,
Xavier Legras,
L. Hubert,
Tian Mi,
Julie A. Tomolonis,
M. Ravishankar,
Qin Sun,
Diane Yang,
M. Borowiak,
...
Pavel Sumazin,
S. Elsea,
B. Bissig-Choisat,
K. Bissig
|
6 |
2016 |
6
🐜
|
|
🐜
|
Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism.
11 auth.
Lisa A. Ford,
A. Kennedy,
K. Goodman,
K. Pappan,
A. M. Evans,
Luke A. D. Miller,
...
Jacob E. Wulff,
Bobby R Wiggs,
J. Lennon,
S. Elsea,
D. Toal
|
6 |
2020 |
6
🐜
|
