Jean M. Lacey

Mayo Clinic — United States

Medicine · Health Sciences

13h-index1.2kcitations26works2.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(6), Metabolism and Genetic Disorders(6), Sexual Differentiation and Disorders(4), Neonatal Health and Biochemistry(4), Glioma Diagnosis and Treatment(3)

Publications26 total

BIOM-30. LONGITUDINAL CEREBROSPINAL FLUID D-2-HYDROXYGLUTARATE FOR DISEASE MONITORING IN PATIENTS WITH IDH-MUTANT GLIOMAS
Neuro-Oncology·2025
Cerebrospinal fluid D-2-hydroxyglutarate for IDH-mutant glioma: utility for detection versus monitoring
2025· 4 citedOpen Access
Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomas
2023· 1 citedOpen Access
Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas
Neuro-Oncology Advances·2023· 15 citedOpen Access
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality
eLife·2022· 3 citedOpen Access
Author response: Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality
2022Open Access
The synergy of multiplex testing to screen for lysosomal disorders (LD)
Molecular Genetics and Metabolism·2022
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders
International Journal of Neonatal Screening·2020· 33 citedOpen Access
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
International Journal of Neonatal Screening·2020· 42 citedOpen Access
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria
Molecular Genetics and Metabolism·2019· 13 cited
Mucopolysaccharide quantitation in urine by LC-MS/MS
Molecular Genetics and Metabolism·2019
Multiplex assay for the tandem detection of ceramide trihexosides and sulfatides: Efficient first tier screening for Fabry, MLD, MSD, and Saposin B in urine
Molecular Genetics and Metabolism·2019
Mucopolysaccharides quantitation in serum by liquid chromatography-tandem mass spectrometry
Molecular Genetics and Metabolism·2018· 1 cited
Precision newborn screening for lysosomal disorders
Genetics in Medicine·2017· 116 citedOpen Access
Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratory
Fertility and Sterility·2012· 15 cited
Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia
Hormone Research in Paediatrics·2010· 21 citedOpen Access
92. First steps towards determination of the most efficient and effective newborn screening (NBS) approach for LSD
Molecular Genetics and Metabolism·2010
Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)
Clinical Chemistry·2008· 125 cited
Detection of Hypo‐<i>N</i>‐Glycosylation Using Mass Spectrometry of Transferrin
Current Protocols in Human Genetics·2007· 10 cited
Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia
The Journal of Clinical Endocrinology & Metabolism·2004· 150 cited
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Frequent Co-authors

Dietrich Matern(15), Silvia Tortorelli(13), Piero Rinaldo(12), Devin Oglesbee(11), Kimiyo Raymond(9), Mark J Magera(8), William Laxen(6), John F. O’Brien(4), Dawn Peck(4), Dimitar Gavrilov(4), Cécile Riviere-Cazaux(4), Arthur E. Warrington(4), Paul A. Decker(4), Timothy J. Kaufmann(4), Jeanette E. Eckel‐Passow(4), Sani H. Kizilbash(4), Terry C. Burns(4), H. Robert Bergen(3), Karen A. Sanders(3), Amy White(3)