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Journal Articles by C. Schwartz
C. J. Spellicy
,
J. Norris
,
R. Bend
,
C. Bupp
,
P. Mester
,
T. Reynolds
,
J. Dean
,
Y. Peng
,
et al.
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
European Journal of Human Genetics,
26
(3), 420-427, 2018
RIS
,
BibTex
Y. Peng
,
J. Norris
,
C. Schwartz
, and
E. Alexov
Revealing the effects of missense mutations causing Snyder-Robinson syndrome on the stability and dimerization of spermine synthase
International journal of molecular sciences,
17
(1), 77, 2016
RIS
,
BibTex
Z. Zhang
,
J. Norris
,
V. Kalscheuer
,
T. Wood
,
L. Wang
,
C. Schwartz
,
E. Alexov
, and
H. V. Esch
A Y328C missense mutation in spermine synthase causes a mild form of Snyder--Robinson syndrome
Human molecular genetics,
22
(18), 3789-3797, 2013
RIS
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BibTex
K. Takano
,
D. Liu
,
P. Tarpey
,
E. Gallant
,
A. Lam
,
S. Witham
,
E. Alexov
,
A. Chaubey
,
et al.
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity
Human molecular genetics,
21
(20), 4497-4507, 2012
RIS
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BibTex
Z. Zhang
,
J. Norris
,
C. Schwartz
, and
E. Alexov
In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in
2011
RIS
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BibTex
Z. Zhang
,
C. Schwartz
, and
E. Alexov
In Silico Investigation of Mutability of Spermine Synthase
Biophysical Journal,
100
(3), 321a, 2011
RIS
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BibTex
S. Witham
,
K. Takano
,
C. Schwartz
, and
E. Alexov
In Silico Investigation of a Missense Mutation in CLIC2 Associated with Intellectual Disability
Biophysical Journal,
100
(3), 611a, 2011
RIS
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BibTex
S. Witham
,
K. Takano
,
C. Schwartz
, and
E. Alexov
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics
Proteins: Structure, Function, and Bioinformatics,
79
(8), 2444-2454, 2011
RIS
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BibTex
Z. Zhang
,
J. Norris
,
C. Schwartz
, and
E. Alexov
In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase
PloS one,
6
(5), e20373, 2011
RIS
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BibTex
A. Pittman
,
R. Saul
,
A. Chaubey
,
E. Alexov
,
M. Tiemeyer
,
R. Steet
,
C. Schwartz
,
M. B\'en\'eteau
,
et al.
PMCID: PMC2695060.
Int Immunol,
22
(7), 593-603, 2010
RIS
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BibTex
S. Teng
,
A. K. Srivastava
,
C. E. Schwartz
,
E. Alexov
, and
L. Wang
Structural assessment of the effects of Amino Acid Substitutions on protein stability and protein? protein interaction
International journal of computational biology and drug design,
3
(4), 334-349, 2010
RIS
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BibTex
Z. Zhang
,
S. Teng
,
L. Wang
,
C. E. Schwartz
, and
E. Alexov
Computational analysis of missense mutations causing Snyder-Robinson syndrome
Human mutation,
31
(9), 1043-1049, 2010
RIS
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BibTex
Conference Papers
K. Vaidyanathan
,
T. Niranjan
,
M. May
,
R. Rose
,
C. F. Teo
,
S. Prabakaran
,
R. Bridger
,
E. Alexov
,
et al.
Characterizing a missense mutation in O-GlcNAc transferase that segregates with disease in a family with X-linked Intellectual Disability
GLYCOBIOLOGY, 2013
RIS
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BibTex
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