Shana E. McCormack

发表

Metabolic Effects of Oxytocin.

E. Lawson, J. Blevins, Shana E. McCormack, 2019, Endocrine reviews.

Mitochondrial DNA Depletion Syndromes Presenting in Childhood

Marni J. Falk, M. Falk, X. Gai, 2016 .

Friedreich's Ataxia Related Diabetes: Epidemiology and Management Practices.

D. Lynch, S. McCormack, C. Rummey, 2022, Diabetes research and clinical practice.

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

L. Liang, A. Hofman, A. Uitterlinden, 2016, Human molecular genetics.

CYP11B1 variants influence skeletal maturation via alternative splicing

Matthew R. Gazzara, A. Uitterlinden, S. Grant, 2021, Communications Biology.

Genetic Variation and Obesity Prior to the Era of Genome-Wide Association Studies

Shana E. McCormack, 2014 .

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

Marni J. Falk, K. Nathanson, R. Reddy, 2016, JCI insight.

A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity.

Christopher D. Brown, A. Uitterlinden, M. McCarthy, 2019, Human molecular genetics.

Relative Skeletal Maturation and Population Ancestry in Nonobese Children and Adolescents

S. Grant, B. Zemel, J. Shepherd, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood

S. Grant, B. Voight, B. Zemel, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

J. Y. Lee, M. Levine, S. McCormack, 2017, The Journal of clinical endocrinology and metabolism.

Genome-wide association analysis identi fi es three new susceptibility loci for childhood body mass index

Anubha, Ang, Eld, 2016 .

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual

Gregory P. Way, D. Lawlor, H. Hakonarson, 2021, Genome Biology.

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping

Gregory P. Way, H. Hakonarson, S. Grant, 2020 .

Hospitalizations for mitochondrial disease across the lifespan in the U.S.

Marni J. Falk, R. Ganetzky, S. Damrauer, 2017, Molecular genetics and metabolism.

Overview of Atypical Diabetes.

S. Pinney, Jaclyn Tamaroff, Marissa J Kilberg, 2020, Endocrinology and metabolism clinics of North America.

Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.

H. Hakonarson, S. Grant, J. Hirschhorn, 2019, The Journal of clinical endocrinology and metabolism.

Effects of acetazolamide on linear growth in children with pseudotumor cerebri syndrome

Grant T. Liu, Grace L. Paley, C. Sheldon, 2023, Frontiers in Ophthalmology.

Magnetic Resonance Imaging Findings in Pediatric Pseudotumor Cerebri Syndrome.

J. Farrar, K. Digre, A. Vossough, 2019, Pediatric neurology.

Presumed Pseudotumor Cerebri Syndrome After Withdrawal of Inhaled Glucocorticoids

Grant T. Liu, Julian L Allen, Shana E. McCormack, 2016, Pediatrics.

Genetics of Obesity and Type 2 Diabetes in African Americans

S. Grant, Shana E. McCormack, 2013, Journal of obesity.

Developmental origins of genotype-phenotype correlations in chronic diseases of old age.

S. Grant, Qianghua Xia, Shana E. McCormack, 2012, Aging and disease.

Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations.

T. Fojo, C. Stratakis, E. Kebebew, 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Digenic Inheritance of PROKR 2 and WDR 11 Mutations in Pituitary Stalk Interruption Syndrome and Hormone Deficiencies

J. Y. Lee, --Manuscript Draft, M. Levine, 2017 .

PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic C. Elegans And Improves GLP-1 Secretion in Human Cells

Marni J. Falk, S. Grant, M. Falk, 2018, Aging and disease.

Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle

G. Csordás, D. Lynch, J. Dunn, 2022, JCI insight.

Posterior Pituitary Disorders: Anatomy and Physiology, Central Diabetes Insipidus (CDI), and Syndrome of Inappropriate Antidiuretic Hormone (SIADH)

C. Alter, B. Kohn, S. McCormack, 2019, Pituitary Disorders of Childhood.

Genetically Determined Birthweight Associates With Atrial Fibrillation

S. Grant, P. Ellinor, D. Rader, 2020, Circulation. Genomic and precision medicine.

Physical Activity Benefits the Skeleton of Children Genetically Predisposed to Lower Bone Density in Adulthood

S. Grant, B. Zemel, J. Shepherd, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic Risk Scores Implicated in Adult Bone Fragility Associate With Pediatric Bone Density

S. Grant, B. Zemel, J. Shepherd, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetics of Bone Mass in Childhood and Adolescence: Effects of Sex and Maturation Interactions

S. Grant, B. Zemel, J. Shepherd, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2017, Genetics in Medicine.

Retrospective dataset and survey analyses identify gaps in data collection for craniopharyngioma and priorities of patients and families affected by the disease

S. Mueller, A. Resnick, C. Kline, 2023, Neoplasia.

Abnormal body composition is a predictor of adverse outcomes after autologous haematopoietic cell transplantation

T. Slavin, L. Jones, S. Forman, 2020, Journal of cachexia, sarcopenia and muscle.

A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.

H. Hakonarson, S. Grant, J. Bradfield, 2015, Human molecular genetics.

An integrated mechanism of pediatric pseudotumor cerebri syndrome: evidence of bioenergetic and hormonal regulation of cerebrospinal fluid dynamics

Young-Joon Kwon, Grant T. Liu, S. McCormack, 2015, Pediatric Research.

Allelic Expression Imbalance: Tipping the Scales to Elucidate the Function of Type 2 Diabetes–Associated Loci

S. Grant, Shana E. McCormack, 2015, Diabetes.

Overweight and obesity in pediatric secondary pseudotumor cerebri syndrome.

Evanette K. Burrows, Grant T. Liu, S. McCormack, 2015, American journal of ophthalmology.

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Sarah C. Milne, A. Koeppen, A. Durr, 2022, Orphanet Journal of Rare Diseases.

Phosphoenolpyruvate Carboxykinase (GTP) Gene Transcription and Hyperglycemia Are Regulated by Glucocorticoids in Genetically Obesedb/db Transgenic Mice*

J. Friedman, T. Ishizuka, C. J. Farrell, 1997, The Journal of Biological Chemistry.

Peak cortisol response to corticotropin-releasing hormone is associated with age and body size in children referred for clinical testing: a retrospective review

Evanette K. Burrows, J. Burnham, V. Bamba, 2015, International Journal of Pediatric Endocrinology.

Partial Central Diabetes Insipidus Following Endonasal Biopsy

Meghan E. Craven, Shana E. McCormack, 2021, Diabetes Insipidus in Children.

Association Between Linear Growth and Bone Accrual in a Diverse Cohort of Children and Adolescents

S. Grant, B. Zemel, J. Shepherd, 2017, JAMA pediatrics.

Pediatric Bone Mineral Accrual Z‐Score Calculation Equations and Their Application in Childhood Disease

J. Shults, B. Zemel, J. Shepherd, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Pediatric Pseudotumor Cerebri Syndrome: Diagnosis, Classification, and Underlying Pathophysiology.

Grant T. Liu, S. McCormack, Grace L. Paley, 2017, Seminars in pediatric neurology.

A Survey of Patient-Relevant Outcomes in Pediatric Craniopharyngioma: Focus on Hypothalamic Obesity

C. Kline, S. McCormack, Matthew C Hocking, 2022, Frontiers in Endocrinology.

The circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress.

Marni J. Falk, John C O'Donnell, M. Falk, 2016, Free radical biology & medicine.

Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.

Marni J. Falk, Zhe Zhang, M. Falk, 2015, Mitochondrion.

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

S. Perlman, K. Mathews, T. Zesiewicz, 2021, Neurology: Genetics.

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

E. Roeder, L. Bird, D. Viskochil, 2023, Journal of Clinical Endocrinology and Metabolism.

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

Marni J. Falk, Lishuang Shen, L. Perera, 2019, PloS one.

Bone Research Society, Annual Meeting 2017 Proceedings

P. Tsai, T. Spector, J. Bell, 2018, Journal of musculoskeletal & neuronal interactions.

Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton

S. Grant, B. Zemel, J. Shepherd, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Physical Activity and Bone Accretion: Isotemporal Modeling and Genetic Interactions

S. Grant, B. Zemel, J. Shepherd, 2018, Medicine and science in sports and exercise.

Rare EN1 Variants and Pediatric Bone Mass

S. Grant, B. Zemel, J. Shepherd, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.

B. Zemel, J. Danzig, V. Stallings, 2016, The Journal of clinical endocrinology and metabolism.

A Genomewide Association Study Identifies Two Sex‐Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites

H. Hakonarson, S. Grant, J. Bradfield, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mitochondrial disease patient motivations and barriers to participate in clinical trials

Marni J. Falk, John L.P. Thompson, Xiaoyang Wang, 2018, PloS one.

Euglycemic Diabetic Ketoacidosis Related to SGLT2 Inhibitor Use in a Patient With Cobalamin C Deficiency and Diabetes

M. Yudkoff, S. Cuddapah, Jaclyn Tamaroff, 2023, Annals of Internal Medicine: Clinical Cases.

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Marni J. Falk, Ryan L. Davis, E. Bertini, 2019, Journal of Medical Genetics.

Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network

Marni J. Falk, Zhe Zhang, E. Rappaport, 2013, PloS one.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

M. Tarnopolsky, P. Yu-Wai-Man, J. Shoffner, 2017, Journal of Inherited Metabolic Disease.

Friedreich Ataxia: Multidisciplinary Clinical Care

D. Lynch, E. Kichula, Kimberly Y. Lin, 2021, Journal of multidisciplinary healthcare.

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

S. Subramony, S. Perlman, T. Zesiewicz, 2017, Annals of clinical and translational neurology.

Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort.

V. Salpietro, R. Avery, O. Eyal, 2016, Ophthalmology.

Risk factors for poor bone health in primary mitochondrial disease

Marni J. Falk, M. Falk, S. McCormack, 2017, Journal of Inherited Metabolic Disease.

A Pilot Randomized Clinical Trial of Intranasal Oxytocin to Promote Weight Loss in Individuals With Hypothalamic Obesity

Michael Fisher, F. Plessow, Arjun Ramakrishnan, 2023, Journal of the Endocrine Society.

Sitting Height to Standing Height Ratio Reference Charts for Children in the United States.

B. Zemel, S. McCormack, C. Hawkes, 2020, The Journal of pediatrics.

Multimodality assessment of heart failure with preserved ejection fraction skeletal muscle reveals differences in the machinery of energy fuel metabolism

B. Desjardins, R. Reddy, H. Fazelinia, 2021, ESC heart failure.

Exercise training and NR supplementation to improve muscle mass and fitness in adolescent and young adult hematopoietic cell transplant survivors: a randomized controlled trial {1}

M. Putt, K. Ness, J. Baur, 2022, BMC cancer.

Skeletal muscle mitochondrial function is associated with longitudinal growth velocity in children and adolescents.

A. Fleischman, S. Grinspoon, S. McCormack, 2011, The Journal of clinical endocrinology and metabolism.

Infant BMI or Weight-for-Length and Obesity Risk in Early Childhood

S. Grant, B. Zemel, A. Chesi, 2016, Pediatrics.

N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease.

Marni J. Falk, Zhe Zhang, C. Seiler, 2018, Molecular genetics and metabolism.

Randomized, double‐blind, placebo‐controlled study of interferon‐γ 1b in Friedreich Ataxia

S. Subramony, S. Perlman, K. Mathews, 2019, Annals of clinical and translational neurology.

Endocrine Disorders in Primary Mitochondrial Disease

Marni J. Falk, M. Falk, R. Haas, 2018, Journal of the Endocrine Society.

Effects of genetic severity on glucose homeostasis in Friedreich ataxia

D. Lynch, S. McCormack, K. Brigatti, 2016, Muscle & nerve.

Women with depression: Financial barriers to access

S. Glied, S. McCormack, Adam Neufeld, 2003 .

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.

H. Hakonarson, S. Grant, R. Chiavacci, 2015, The Journal of clinical endocrinology and metabolism.

In vivo assessment of OXPHOS capacity using 3 T CrCEST MRI in Friedreich’s ataxia

R. Reddy, D. Lynch, J. Dunn, 2021, Journal of Neurology.

Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit

M. Falk, S. Kubis, J. Ehinger, 2021, Pediatric Research.

Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls.

S. Grant, B. Voight, B. Zemel, 2019, Bone.

Headache Characteristics in Children With Pseudotumor Cerebri Syndrome, Elevated Opening Pressure Without Papilledema, and Normal Opening Pressure: A Retrospective Cohort Study

Grant T. Liu, S. McCormack, Grace L. Paley, 2018, Headache.

Diabetes in childhood cancer survivors: emerging concepts in pathophysiology and future directions

R. Natarajan, S. Armenian, S. Mostoufi-Moab, 2023, Frontiers in medicine.

Association Between Body Composition and Development of Glucose Intolerance after Allogeneic Hematopoietic Cell Transplantation.

Kyuwan Lee, S. Armenian, S. Mostoufi-Moab, 2022, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

Body Mass Index Is a Better Indicator of Body Composition than Weight‐for‐Length at Age 1 Month

D. Fields, B. Zemel, M. Elovitz, 2019, The Journal of pediatrics.

Clinical and Prognostic Significance of Cerebrospinal Fluid Opening and Closing Pressures in Pediatric Pseudotumor Cerebri Syndrome.

Evanette K. Burrows, Grant T. Liu, S. McCormack, 2018, Pediatric neurology.

Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension

M. Kupersmith, M. Wall, Benjamin E. Deonovic, 2019, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

O-6: Induction of PEPCK gene transcription in the genetically obese dbldb mouse occurs through a glucocorticoid response element

J. Friedman, C. J. Farrell, R. Hanson, 2009 .

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

Marni J. Falk, Colleen Clarke, M. Yudkoff, 2014, Molecular genetics and metabolism.

Overweight and obesity in pediatric secondary pseudotumor cerebri syndrome.

Evanette K. Burrows, Grant T. Liu, Grace L. Paley, 2015, American journal of ophthalmology.

Persistent Musculoskeletal Deficits in Pediatric, Adolescent and Young Adult Survivors of Allogeneic Hematopoietic Stem‐Cell Transplantation

B. Zemel, M. Leonard, S. McCormack, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity

H. Hakonarson, S. Grant, J. Hirschhorn, 2018, bioRxiv.

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

Marni J. Falk, R. Ganetzky, E. McCormick, 2023, Neurotherapeutics.

Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia

S. Paridon, J. Edelson, Jaclyn Tamaroff, 2024, Muscle & nerve.

Digital Commons @ University of South Florida Digital Commons @ University of South Florida

S. Subramony, G. Wilmot, C. Hoyle, 2022 .

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle.

S. Raman, M. Belury, D. Reiter, 2017, Journal of visualized experiments : JoVE.

Reliability of In Vivo Creatine-Weighted Chemical Exchange Saturation Transfer (CrCEST) MRI in Calf Skeletal Muscle of Healthy Volunteers at 3 T.

P. Bagga, Kasturee Chakraborty, Shana E. McCormack, 2024, Journal of magnetic resonance imaging : JMRI.

Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

T. Lehtimäki, J. Glessner, H. Hakonarson, 2024, Genome biology.

NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich’s Ataxia

D. Biko, Sarmistha Mukherjee, Elizabeth Mercado-Ayón, 2024, JCI insight.