Eugene Mcdermott Center For Human Growth & Development

Research output

Research output per year 1983 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024

• 1746 Article
• 153 Review article
• 73 Comment/debate
• 58 Letter
• 117 More
  • 54 Chapter
  • 30 Editorial
  • 22 Short survey
  • 6 Conference contribution
  • 3 Book
  • 2 Foreword/postscript

Research output per year

Research output per year

Search results

• 2021

  Genetics of autism spectrum disorder: Searching for the rare to explain the common

  Tuncay, I. O. & Chahrour, M. H., Sep 1 2021, Encyclopedia of Behavioral Neuroscience: Second Edition. Elsevier, Vol. 1-3. p. 299-306 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
• 2020

  Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders

  Casy, W., Ling, Q., Shaffo, F. C., Sinnett, S. E. & Gray, S. J., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 129-144 16 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Dependovirus 100%
  • Central Nervous System Diseases 88%
  • Genetic Therapy 74%
  • Inborn Genetic Diseases 74%
  • Central Nervous System 59%
  1 Scopus citations

• A neurologic gene map

  Kayani, S. N., Wilson, K. S. & Rosenberg, R. N., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2. Elsevier, p. 701-791 91 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Nervous System 100%
  • Genetic Databases 53%
  • Genes 49%
  • Databases 49%
  • Public Sector 48%
  1 Scopus citations

• Glucose transporter type I deficiency and other glucose flux disorders

  Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 849-863 15 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Facilitative Glucose Transport Proteins 100%
  • Glucose 54%
  • Brain 42%
  • High-Protein Low-Carbohydrate Diets 28%
  • Erythrocytes 27%

• Menkes disease and other ATP7A disorders

  Pascual, J. M. & Menkes, J. H., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 613-619 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Menkes Kinky Hair Syndrome 100%
  • Tyrosine Phenol-Lyase 43%
  • Copper 43%
  • Hair 42%
  • Occipital horn syndrome 41%

• Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders

  Jakkamsetti, V., Marin-Valencia, I., Ma, Q. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 427-436 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Pyruvate Carboxylase 100%
  • Mitochondrial Diseases 81%
  • Citric Acid Cycle 80%
  • Pyruvic Acid 69%
  • Oxidoreductases 59%
  2 Scopus citations

• Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

  Rosenberg, R. N. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2. Elsevier, p. 1-806 806 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Nervous System Diseases 100%
  • Mental Disorders 86%
  • Molecular Biology 86%
  • Neurologists 59%
  • Genetic Counseling 58%
  11 Scopus citations

• Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

  Rosenberg, R. N. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 1-985 985 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Nervous System Diseases 100%
  • Mental Disorders 86%
  • Molecular Biology 86%
  • Neurologists 59%
  • Genetic Counseling 58%
  2 Scopus citations

• Wolman disease

  Marin-Valencia, I. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 559-566 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Wolman Disease 100%
  • Cholesterol Esters 69%
  • Sterol Esterase 34%
  • Enzyme Replacement Therapy 21%
  • Lysosomal acid lipase deficiency 14%
• 2018

  Current understanding of genetic factors in idiopathic scoliosis

  Wise, C. A. & Ikegawa, S., Jun 12 2018, The Genetics and Development of Scoliosis: Second Edition. Springer International Publishing, p. 139-157 19 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  2 Scopus citations

• Genetic Interstitial Lung Disease

  Garcia, C. K., 2018, Interstitial Lung Disease. Elsevier Inc., p. 1-24 24 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Interstitial Lung Diseases 100%
  • Phenotype 32%
  • Telomere Shortening 24%
  • Explosions 22%
  • Endoplasmic Reticulum Stress 20%

• Genomes and variants

  Wittwer, C. T. & Park, J. Y., Jan 1 2018, Principles and Applications of Molecular Diagnostics. Elsevier, p. 17-33 17 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • DNA Sequencing 100%
  • Pipeline 93%
  • Substitution Reaction 50%

• Molecular and Genetic Cardiovascular Medicine and Systemic Inflammation

  Fox, A. A., Sharma, S., Mounsey, J. P., Durieux, M. E., Whitlock, R. & Bennett-Guerrero, E., 2018, Kaplan's Essentials of Cardiac Anesthesia for Cardiac Surgery. Elsevier Inc., p. 94-111 18 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  1 Scopus citations

• The genetic architecture of adolescent idiopathic scoliosis

  Khanshour, A. M. & Wise, C. A., Jan 1 2018, Pathogenesis of Idiopathic Scoliosis. Springer Japan, p. 51-74 24 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Scoliosis 100%
  • Paired Box Transcription Factors 16%
  • Cartilage Diseases 13%
  • Developmental Biology 12%
  • Neuromuscular Diseases 11%
  6 Scopus citations
• 2017

  Autism Spectrum Disorder

  Saxena, A. & Chahrour, M., Mar 23 2017, Genomic and Precision Medicine: Primary Care: Third Edition. Elsevier Inc., p. 301-316 16 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Autism Spectrum Disorder 100%
  • Disorder 82%
  • Genomics 32%
  • Medical Informatics 20%
  • Chromosome Aberrations 15%
  8 Scopus citations
• 2016

  Quantitative organic acids in urine by two dimensional gas chromatography-time of flight mass spectrometry (GCxGC-TOFMS)

  Sweetman, L., Ashcraft, P. & Bennett-Firmin, J., 2016, Methods in Molecular Biology. Humana Press Inc., p. 183-197 15 p. (Methods in Molecular Biology; vol. 1378).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Gas Chromatography 100%
  • Mass Spectrometry 79%
  • Acids 66%
  • Urine 62%
  • Keto Acids 18%
  9 Scopus citations
• 2015

  Glut1 Deficiency (G1D)

  Pascual, J. M., 2015, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 785-795 11 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Facilitative Glucose Transport Proteins 100%
  • Glut1 Deficiency Syndrome 77%
  • Chorea 56%
  • Acetyl Coenzyme A 56%
  • Glucose 54%

• Overview of next generation, high-throughput molecular genetic methods

  Rios, J. J., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 1-16 16 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Disorder 100%
  • Molecular Biology 94%
  • Technology 76%
  • Genome 52%
  • Musculoskeletal Diseases 52%

• Somatic mutations in overgrowth syndromes

  Rios, J. J. & Ezaki, M., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 153-165 13 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Mutation 100%
  • Disorder 50%
  • Paternal Age 35%
  • Genetic Phenomena 32%
  • Maternal Age 25%

• The genetic architecture of idiopathic scoliosis

  Wise, C. A., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 71-89 19 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Neuromuscular 100%
  • Developmental 86%
  • Scoliosis 77%
  • Developmental Biology 31%
  • Neuromuscular Diseases 30%
  3 Scopus citations
• 2014

  Analysis of hypoxia-induced metabolic reprogramming

  Yang, C., Jiang, L., Zhang, H., Shimoda, L. A., Deberardinis, R. J. & Semenza, G. L., 2014, Conceptual Background and Bioenergetic/Mitochondrial Aspects of Oncometabolism. Academic Press Inc., p. 425-455 31 p. (Methods in Enzymology; vol. 542).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Metabolic 100%
  • Hypoxia 97%
  • Glucose 90%
  • Acetyl Coenzyme A 81%
  • Hypoxia-Inducible Factor 1 77%
  67 Scopus citations

• A Neurologic Gene Map

  Kayani, S. N., Wilson, K. S. & Rosenberg, R. N., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 1333-1400 68 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Nervous System 100%
  • Databases 59%
  • Public Sector 58%
  • Genes 49%
  • Genomic Structural Variation 41%
  1 Scopus citations

• Assay Principles in CLinical Pathology

  Kricka, L. J. & Park, J. Y., Jan 1 2014, Pathobiology of Human Disease: A Dynamic Encyclopedia of Disease Mechanisms. Elsevier Inc., p. 3207-3221 15 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Clinical Pathology 100%
  • Electromagnetic Phenomena 97%
  • Enzyme Assays 47%
  • NAD 42%
  • Electrolytes 40%
  7 Scopus citations

• Bladder outlet injection for urinary incontinence

  Yucel, S. & Baker, L. A., Dec 1 2014, Pediatric Endourology Techniques. Springer-Verlag London Ltd, Vol. 9781447153948. p. 217-227 11 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Urinary Incontinence 100%
  • Urinary Bladder 73%
  • Injections 52%
  • Child 19%
  • Therapeutics 7%

• Challenges and new directions for cardiac reprogramming

  Nam, Y. J. & Munshi, N., Jul 4 2014, Chemical Biology in Regenerative Medicine: Bridging Stem Cells and Future Therapies. wiley, p. 49-58 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Cardiogenic 100%
  • Fibroblasts 36%
  • Direction compound 35%
  • Cardiac Myocytes 34%
  • Heart 24%

• Glucose Transporter Type I Deficiency and Other Glucose Flux Disorders

  Pascual, J. M., Wang, D. & De Vivo, D. C., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 649-662 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Facilitative Glucose Transport Proteins 100%
  • Glucose 54%
  • Ketogenic Diet 40%
  • Chorea 37%
  • Acetyl Coenzyme A 37%
  3 Scopus citations

• Kernicterus

  Pascual, J. M., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 801-804 4 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Kernicterus 100%
  • Gliosis 26%
  • Basal Ganglia 22%
  • Bilirubin 21%
  • Developed Countries 21%

• Menkes Disease and Other ATP7A Disorders

  Pascual, J. M. & Menkes, J. H., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 455-462 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Menkes Kinky Hair Syndrome 100%
  • Copper 65%
  • Hair 42%
  • Occipital horn syndrome 41%
  • Pili Torti 39%
  2 Scopus citations

• Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial Transport Disorders

  Tondo, M., Marin-Valencia, I., Ma, Q. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 291-297 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Pyruvate Carboxylase 100%
  • Mitochondrial Diseases 81%
  • Citric Acid Cycle 80%
  • Pyruvic Acid 69%
  • Oxidoreductases 59%
  3 Scopus citations

• Wolman Disease

  Marin-Valencia, I. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 403-409 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Wolman Disease 100%
  • Cholesterol Ester Storage Disease 81%
  • Sterol Esterase 47%
  • Lysosomal acid lipase deficiency 41%
  • Liver Failure 24%
• 2013

  General principles of cystourethroscopy

  Keays, M. A. & Baker, L. A., Dec 1 2013, Pediatric Endourology Techniques. Springer-Verlag London Ltd, p. 191-206 16 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Ureterocele 100%
  • Urethral Stricture 84%
  • Vesico-Ureteral Reflux 82%
  • Urinary Calculi 82%
  • Diverticulum 76%

• Interferences in Immunoassay

  Park, J. Y. & Kricka, L. J., 2013, The Immunoassay Handbook. Elsevier Ltd, p. 403-416 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  12 Scopus citations

• Testicular torsion

  Snodgrass, W. T., Baker, L. A. & Bush, N. C., Jun 1 2013, Pediatric Urology: Evidence for Optimal Patient Management. Springer New York, p. 89-102 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Spermatic Cord Torsion 100%
  • Orchiopexy 99%
  • Testis 37%
  • Atrophy 36%
  • Orchiectomy 33%

• The cytogenetics of solid tumors

  Cooley, L. D. & Wilson, K. S., Jan 1 2013, The Principles of Clinical Cytogenetics, Third Edition. Springer New York, p. 371-411 41 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Cytogenetics 100%
  • Disorder 60%
  • Fluorescence 40%
  • Drug 37%
  • Neoplasms 22%
  2 Scopus citations

• Urolithiasis

  Baker, L. A. & Bush, N. C., Jun 1 2013, Pediatric Urology: Evidence for Optimal Patient Management. Springer New York, p. 259-274 16 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Urolithiasis 100%
  • Lithotripsy 68%
  • Potassium Citrate 37%
  • Child 34%
  • Recurrence 32%
• 2012

  Caveolin-1 and pancreatic ductal adenocarcinoma

  Rittenhouse, D. W., Mukherjee, O., Richards, N. G., Yeo, C. J., Witkiewicz, A. K. & Brody, J. R., Jan 1 2012, Caveolins in Cancer Pathogenesis, Prevention and Therapy. Springer New York, p. 43-52 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• Pancreatic cancer and premalignant tumors: Molecular aspects

  Brody, J. R., Rittenhouse, D. W., Witkiewicz, A. K. & Yeo, C. J., Mar 29 2012, Blumgart's Surgery of the Liver, Biliary Tract and Pancreas. Elsevier, p. 123-134 12 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• Robotic Surgery Complications and Safety

  Dajusta, D. & Baker, L. A., Feb 3 2012, Pediatric Robotic and Reconstructive Urology: A Comprehensive Guide. Wiley-Blackwell, p. 277-289 13 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Robotics 100%
  • Safety 55%
  • Pediatrics 36%
  • Patient Safety 18%
  • Laparoscopy 17%
  1 Scopus citations
• 2011

  Anesthetic considerations for surgical repair of the thoracic aorta

  Gelfand, B. J. & Fox, A. A., Jan 1 2011, Essential Clinical Anesthesia. Cambridge University Press, p. 485-491 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Thoracic Aorta 100%
  • Anesthetics 87%
  • Dissecting Aneurysm 67%
  • Operating Rooms 61%
  • Resuscitation 38%

• Disorders of Muscle Excitability

  Pascual, J. M. & Brady, S. T., Dec 7 2011, Basic Neurochemistry: Principles of Molecular, Cellular, and Medical Neurobiology: Eighth Edition. Elsevier, p. 783-800 18 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  Open Access

• Ventricular assist devices

  Fox, A. A. & Fox, J. A., Jan 1 2011, Essential Clinical Anesthesia. Cambridge University Press, p. 479-484 6 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
• 2010

  Carbon-13 nuclear magnetic resonance for analysis of metabolic pathways

  Malloy, C. R., Maher, E., Marin-Valencia, I., Mickey, B., Deberardinis, R. J. & Dean Sherry, A., Jan 1 2010, Methodologies for Metabolomics: Experimental Strategies and Techniques. Cambridge University Press, p. 415-445 31 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Carbon-13 100%
  • Metabolic Networks and Pathways 62%
  • Magnetic Resonance Spectroscopy 52%
  • Metabolic 50%
  • NMR Spectroscopy 41%
  7 Scopus citations

• Current understanding of genetic factors in idiopathic scoliosis

  Wise, C. A. & Sharma, S., 2010, The Genetics and Development of Scoliosis. Springer New York, p. 167-190 24 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Scoliosis 100%
  • Column Like Crystal 55%
  • Spine 35%
  • Radiography 22%
  8 Scopus citations
• 2008

  Metabolism of cell growth and proliferation

  DeBerardinis, R. J. & Thompson, C. B., Mar 26 2008, The Molecular Basis of Cancer. Elsevier, p. 189-203 15 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  2 Scopus citations
• 2007

  Bladder outlet injection for urinary incontinence

  Yucel, S. & Baker, L. A., 2007, Pediatric Endourology Techniques. Springer London, p. 85-91 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Urinary Incontinence 100%
  • Statistical Factor Analysis 81%
  • Urinary Bladder 73%
  • Injections 52%
  • Child 39%

• Developmental Neurology: A Molecular Perspective

  Pascual, J. M., Jan 1 2007, Molecular Neurology. Elsevier, p. 145-147 3 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  1 Scopus citations

• General principles of cystourethroscopy

  Baker, L. A., 2007, Pediatric Endourology Techniques. Springer London, p. 67-76 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Pediatrics 100%
  • Minimally Invasive Surgical Procedures 87%
  • Premature Infants 74%
  • Endoscopy 69%
  • Therapeutics 25%
  1 Scopus citations

• Genetic Disorders of Neuromuscular Development

  Pascual, J. M., Jan 1 2007, Molecular Neurology. Elsevier, p. 163-176 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• Metabolic Diseases of the Nervous System

  Pascual, J. M., Jan 1 2007, Molecular Neurology. Elsevier, p. 149-161 13 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  2 Scopus citations

• STING for vesicoureteral reflux

  Yucel, S. & Baker, L. A., 2007, Pediatric Endourology Techniques. Springer London, p. 77-84 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Vesico-Ureteral Reflux 100%
  • Urinary Tract Infections 74%
  • Cicatrix 67%
  • Chronic Kidney Failure 46%
  • Kidney 42%