Publications by authors named "Elaine B Spector"

Claim this Profile
P
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, Joseph Farris, Elsebet Østergaard, Elaine B Spector

Hum Mol Genet· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
Shanshan Gao, Abigail Mumme-Monheit, Suet Nee Chen, Elaine B Spector, Dobromir Slavov

Am J Med Genet A· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Johan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, Loren D M Pena, Kerrie L Moreau, Elaine B Spector

J Inherit Metab Dis· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Shulin Zhang, Annette K Taylor, Xuan Huang, Biao Luo, Elaine B Spector

Genet Med· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.
Curtis R Coughlin, Michael A Swanson, Elaine B Spector, Kathryn E Kronquist, Johan L K Van Hove

Pediatr Neurol· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Natario L Couser, Chetna K Pande, Christie M Turcott, Elaine B Spector, Arthur S Aylsworth

Am J Med Genet A· April 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Marisa W Friederich, Alican J Erdogan, Curtis R Coughlin, Mihret T Elos, Hua Jiang, Elaine B Spector

Hum Mol Genet· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Kendra J Bjoraker, Michael A Swanson, Curtis R Coughlin, John Christodoulou, Ee S Tan, Elaine B Spector

J Pediatr· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Michael A Swanson, Curtis R Coughlin, Gunter H Scharer, Heather J Szerlong, Kendra J Bjoraker, Elaine B Spector

Ann Neurol· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
Sally P Stabler, Mark Korson, Reena Jethva, Robert H Allen, Jan P Kraus, Elaine B Spector

JIMD Rep· August 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
Kristin G Monaghan, Elaine Lyon, Elaine B Spector,

Genet Med· July 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.
Laura M Pollard, Nolan R Williams, Lesby Espinoza, Tim C Wood, Elaine B Spector

J Child Neurol· August 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines.
Kathryn E Kronquist, Stephanie L Sherman, Elaine B Spector

Genet Med· November 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.
Kristin G Monaghan, Gerald L Feldman, Glenn E Palomaki, Elaine B Spector,

Genet Med· January 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial acanthosis nigricans due to K650T FGFR3 mutation.
David R Berk, Elaine B Spector, Susan J Bayliss

Arch Dermatol· September 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Girish V Putcha, Bassem A Bejjani, Stacey Bleoo, Jessica K Booker, John C Carey, Elaine B Spector

Genet Med· July 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Susan H Bernacki, Jeanne C Beck, Ana K Stankovic, Laurina O Williams, Jean Amos, Elaine B Spector

Clin Chem· November 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
Elaine B Spector, Wayne W Grody, Carla J Matteson, Glenn E Palomaki, Daniel B Bellissimo

Genet Med· September 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Technical standards and guidelines for Huntington disease testing.
Nicholas T Potter, Elaine B Spector, Thomas W Prior

Genet Med· July 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis