D. Oglesbee

发表

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

P. Rinaldo, D. Matern, J. Alexander, 2017, Genetics in Medicine.

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.

Eric W. Klee, Matthew J. Ferber, Devin Oglesbee, 2015, The Journal of molecular diagnostics : JMD.

Composition of single-step media used for human embryo culture.

D. Oglesbee, D. Morbeck, N. Baumann, 2017, Fertility and sterility.

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

P. Rinaldo, D. Matern, J. Hopwood, 2020, International journal of neonatal screening.

Newborn screening for lysosomal storage disorders.

P. Rinaldo, D. Matern, S. Tortorelli, 2015, Seminars in perinatology.

Newborn Screening by Tandem Mass Spectrometry and Molecular Confirmation

D. Oglesbee, S. Hofherr, 2014 .

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

D. Matern, S. Tortorelli, D. Oglesbee, 2013, Developmental disabilities research reviews.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

P. Rinaldo, D. Matern, S. Tortorelli, 2020, International journal of neonatal screening.

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

P. Rinaldo, D. Matern, D. Milošević, 2017, The Journal of molecular diagnostics : JMD.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

N. Leslie, R. Hopkin, P. Rinaldo, 2015, Genetics in Medicine.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2016, Clinical chemistry.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

A. Moser, P. Rinaldo, D. Matern, 2015, Molecular genetics and metabolism.

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

P. Rinaldo, D. Matern, S. Tortorelli, 2015, Journal of Inherited Metabolic Disease.

Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

D. Oglesbee, Marcus J Miller, Marcus J. Miller, 2020, Genetics in Medicine.

Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice

Ian R. Lanza, E. Morava, D. Oglesbee, 2021, Neurobiology of Stress.

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

D. Lawlor, D. MacArthur, John Wright, 2020, eLife.

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1

D. MacArthur, John Wright, J. Lieske, 2019, bioRxiv.

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007)

P. Rinaldo, D. Matern, S. Tortorelli, 2007, Journal of Inherited Metabolic Disease.

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Clinical chemistry.

Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study.

J. Lieske, P. Harris, D. Milliner, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Unexpected Fabry Disease in a Renal Allograft Kidney: An Underrecognized Cause of Poor Allograft Function

H. Cathro, M. Wick, D. Oglesbee, 2011, Ultrastructural pathology.

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

Gavin R. Oliver, Asha A. Nair, Krutika S Gaonkar, 2019, PloS one.

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance

G. Palomaki, T. Cowan, M. Pasquali, 2017, Genetics in Medicine.

Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder.

M. Frye, G. Jenkins, S. McElroy, 2017, Journal of psychiatric research.

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

A. von Deimling, P. Wesseling, J. Carter, 2020, HGG advances.

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

P. Rinaldo, D. Matern, B. Robinson, 2005, Clinical chemistry.

Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation

G. Gores, T. Karlsen, Chang Hu, 2020, Hepatology.

Engineering targeted deletions in the mitochondrial genome

S. Ekker, K. Clark, H. Ata, 2018, bioRxiv.

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

G. Palomaki, A. Gregg, D. Oglesbee, 2019, Genetics in Medicine.

Disease-causing Mitochondrial Heteroplasmy Segregated within Induced Pluripotent Stem Cell Clones Derived from A MELAS Patient

A. Terzic, C. Folmes, C. Perez-Terzic, 2013 .

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

J. Bernstein, J. Abdenur, P. Rinaldo, 2010, The Journal of pediatrics.

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

P. Rinaldo, D. Matern, S. Tortorelli, 2008, Clinical chemistry.

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).

K. Strauss, B. Casetta, P. Rinaldo, 2008, Clinical chemistry.

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

P. Rinaldo, D. Matern, S. Tortorelli, 2018, Clinical chemistry.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

Investigating Mitochondrial Redox Potential with Redox-sensitive Green Fluorescent Protein Indicators*

Devin Oglesbee, Robert Aggeler, Roger Y Tsien, 2004, Journal of Biological Chemistry.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

S. Ekker, K. Clark, S. Farber, 2022, eLife.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Natural underlying mtDNA heteroplasmy as a potential source of intra‐person hiPSC variability

V. Mootha, E. Schon, A. Terzic, 2016, The EMBO journal.

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Molecular genetics and metabolism.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

The Subunit Composition of the Human NADH Dehydrogenase Obtained by Rapid One-step Immunopurification*

Steven W. Taylor, E. Fahy, Soumitra S Ghosh, 2003, The Journal of Biological Chemistry.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Owen S. Skinner, V. Mootha, C. Clish, 2021, The Journal of clinical investigation.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

P. Rinaldo, D. Matern, S. Tortorelli, 2013, Molecular genetics and metabolism.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

An overview of peroxisomal biogenesis disorders.

D. Oglesbee, 2005, Molecular Genetics and Metabolism.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

D. Lynch, P. Rinaldo, D. Matern, 2013, Clinical chemistry.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Jennifer B. McCormick, S. Ekker, N. Giama, 2016, Human mutation.

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Brian C. Netzel, M. Schultz, P. Rinaldo, 2020, Molecular genetics and metabolism.

A replicating module as the unit of mitochondrial structure and functioning.

Michelle K. Knowles, S. Remington, R. Gilkerson, 2002, Biochimica et biophysica acta.

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Christina Lam, P. Rinaldo, D. Matern, 2021, JIMD reports.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Design and analytical validation of clinical DNA sequencing assays.

Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, Elaine Lyon, 2012, Archives of pathology & laboratory medicine.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

D. Oglesbee, D. Freedenberg, B. Anderson, 2006, Pediatric neurology.

Mass Spectrometry-Based Assessment of Prostate Cancer-Associated Crystalloids Reveals Enrichment for Growth & Differentiation Factor 15 (GDF15).

J. Cheville, R. Thompson, S. Boorjian, 2023, Human pathology.

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

E. Perlstein, Christina Lam, D. Cassiman, 2021, Annals of neurology.

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2018, Genetics in Medicine.

A new D‐galactose treatment monitoring index for PGM1‐CDG

P. Rinaldo, D. Matern, E. Perales-Clemente, 2021, Journal of inherited metabolic disease.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

R. Giugliani, P. Rinaldo, D. Matern, 2019, Molecular genetics and metabolism.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency

W. Freeman, D. Matern, S. Tortorelli, 2010, Journal of Inherited Metabolic Disease.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

P. Rinaldo, D. Matern, J. Alexander, 2018, Genetics in Medicine.

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria

B. Lanpher, J. Tillema, P. Rinaldo, 2020, JIMD reports.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

S. South, M. Watson, V. Sutton, 2020, Genetics in Medicine.

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

D. Lynch, D. Oglesbee, E. Deutsch, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

M. Patterson, S. Kirmani, D. Oglesbee, 2011, Journal of Neurology.

A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

Vincent J. Lynch, F. Jasmine, M. Kibriya, 2019, PLoS genetics.

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

G. Palomaki, A. Gregg, D. Oglesbee, 2019, Genetics in Medicine.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study

M. Patterson, A. Badley, R. Gavrilova, 2020, Journal of inherited metabolic disease.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

M. Schultz, B. Lanpher, E. Klee, 2018, JIMD reports.

Mitochondrial dysfunction impairs human neuronal development and reduces neuronal network activity and synchronicity

D. Schubert, R. Rodenburg, D. Cassiman, 2019, bioRxiv.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

M. Seashore, F. Bamforth, Y. Chien, 2011, Genetics in Medicine.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Natural underlying mtDNA heteroplasmy as a potential source of intra‐person hiPSC variability

Timothy J. Nelson, V. Mootha, E. Schon, 2016, The EMBO journal.

Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

Vincent J. Lynch, F. Jasmine, M. Kibriya, 2019, PLoS genetics.

Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

G. Feldman, P. Rinaldo, D. Matern, 2017, Molecular genetics & genomic medicine.

An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.

D. Oglesbee, Zinandré Stander, Coleman T. Turgeon, 2023, Molecular genetics and metabolism.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders

D. Matern, S. Tortorelli, D. Gavrilov, 2023, Journal of Inherited Metabolic Disease.

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2017, Genetics in Medicine.

Disease‐Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS

A. Terzic, C. Perez-Terzic, D. Oglesbee, 2013, Stem cells.

Homogentisic acid interference in routine urine creatinine determination.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Molecular genetics and metabolism.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

D. Oglesbee, D. Selcen, Noemi Vidal-Folch, 2024, Frontiers in genetics.

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.

D. Oglesbee, K. Linda, N. Nadif Kasri, 2020, Cell reports.

Unexpected Fabry Disease in a Renal Allograft Kidney: An Underrecognized Cause of Poor Allograft Function

H. Cathro, M. Wick, D. Oglesbee, 2011, Ultrastructural pathology.