Research Output 1981 2019

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2018
12 Citations (Scopus)

Neurodegeneration with brain iron accumulation

Hayflick, S., Kurian, M. A. & Hogarth, P. P., Jan 1 2018, Handbook of Clinical Neurology. Elsevier B.V., p. 293-305 13 p. (Handbook of Clinical Neurology; vol. 147).

Research output: Chapter in Book/Report/Conference proceedingChapter

Mutation
Pantothenate Kinase-Associated Neurodegeneration
Exome
Inborn Genetic Diseases
Phospholipases A2

Tagmentation-based library preparation for low DNA input whole genome bisulfite sequencing

Weichenhan, D., Wang, Q., Adey, A., Wolf, S., Shendure, J., Eils, R. & Plass, C., Jan 1 2018, Methods in Molecular Biology. Humana Press Inc., Vol. 1708. p. 105-122 18 p. (Methods in Molecular Biology; vol. 1708).

Research output: Chapter in Book/Report/Conference proceedingChapter

Libraries
Genome
DNA
Transposases
Untranslated RNA
2017

Fatty acid β-oxidation defects

Harding, C., Jan 6 2017, Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. IOS Press, p. 155-189 35 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Fatty Acids
Hypoglycemia
Inborn Errors Metabolism
Rhabdomyolysis
Retinitis Pigmentosa

Gene and cell therapy for inborn errors of metabolism

Harding, C., Jan 1 2017, Inherited Metabolic Diseases: A Clinical Approach. Springer Berlin Heidelberg, p. 155-171 17 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Errors Metabolism
Cell- and Tissue-Based Therapy
Genetic Therapy
2016

Common inherited genetic disorders

Hegde, M. & Richards, C. S., Apr 19 2016, Nucleic Acid Testing for Human Disease. CRC Press, p. 373-411 39 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Genetic Diseases
2015

Colon and ovarian translocations

Spellman, P., Jan 1 2015, Chromosomal Translocations and Genome Rearrangements in Cancer. Springer International Publishing, p. 417-426 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Tumors
Colon
Genes
Neoplasms
Genome
2014

Modeling PKAN in Mice and Flies

Sibon, O., Hayflick, S. & Tiranti, V., Oct 29 2014, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 905-913 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Diptera
Pantothenate Kinase-Associated Neurodegeneration
Pantothenic Acid
Drosophila
Protein Isoforms

Understanding and Using Information about Cancer Genomes

Spellman, P., Stuart, J. & Gray, J., Mar 2014, The Molecular Basis of Cancer: Fourth Edition. Elsevier Inc.

Research output: Chapter in Book/Report/Conference proceedingChapter

Genome
Neoplasms
2013
23 Citations (Scopus)

Characterization of tissue histopathology via predictive sparse decomposition and spatial pyramid matching.

Chang, H., Nayak, N., Spellman, P. & Parvin, B., 2013, Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention. Pt 2 ed. Vol. 16. p. 91-98 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Histology
Neoplasms
Atlases
Sample Size
Genome

Connective Tissue Pathways that Regulate Growth Factors

Sengle, G. & Sakai, L., Jul 19 2013, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism: Eighth Edition. Wiley-Blackwell, p. 42-48 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Microfibrils
Connective Tissue
Intercellular Signaling Peptides and Proteins
Tissue
Versicans

Detection of c-Myc protein-protein interactions and phosphorylation status by immunoprecipitation

Daniel, C. J., Zhang, X. & Sears, R. C., 2013, Methods in Molecular Biology. Vol. 1012. p. 65-76 12 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Proto-Oncogene Proteins c-myc
Immunoprecipitation
Phosphorylation
Proteins
Phosphoric Monoester Hydrolases
2 Citations (Scopus)

Detection of c-Myc protein-protein interactions and phosphorylation status by immunoprecipitation

Daniel, C. J., Zhang, X. & Sears, R., 2013, Methods in Molecular Biology. Humana Press Inc., Vol. 1012. p. 65-76 12 p. (Methods in Molecular Biology; vol. 1012).

Research output: Chapter in Book/Report/Conference proceedingChapter

Proto-Oncogene Proteins c-myc
Immunoprecipitation
Phosphorylation
Proteins
Phosphoric Monoester Hydrolases

Molecular Correlates of Morphometric Subtypes in Glioblastoma Multiforme

Chang, H., Fontenay, G. V., Bilgin, C. C., Borowsky, A., Spellman, P. & Parvin, B., Dec 2013, Computational Systems Biology: From Molecular Mechanisms to Disease: Second Edition. Elsevier Inc., p. 423-454 32 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Glioblastoma
Tissue
Genes
Genome
Histology
2011

Inborn errors of fatty acid oxidation

Gillingham, M. & Steiner, R. D., Jan 1 2011, Liver Disease in Children, Fourth Edition. Cambridge University Press, p. 587-602 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Fatty Acids
Phenotype
Ketone Bodies
Hypoglycemia
Glucose

Inborn Errors of Metabolism

Smith, L. & Harding, C., 2011, Pediatric Critical Care. Elsevier Inc., p. 1089-1104 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Errors Metabolism
2009

Connective Tissue Pathways That Regulate Growth Factors

Sengle, G., Charbonneau, N. L., Ono, R. N. & Sakai, L., Dec 23 2009, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism: Seventh Edition. John Wiley & Sons, Inc., p. 27-32 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Bone Morphogenetic Proteins
Connective Tissue
Intercellular Signaling Peptides and Proteins
2006

Inborn Errors of Metabolism

Smith, L. & Harding, C., 2006, Pediatric Critical Care. Mosby Inc., p. 1085-1104 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Errors Metabolism
2005

Pantothenate kinase-associated neurodegeneration (Pkan)

Hayflick, S., Jan 1 2005, Treatment of Pediatric Neurologic Disorders. CRC Press, p. 355-359 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pantothenate Kinase-Associated Neurodegeneration
Palliative Care
Therapeutics
2003
3 Citations (Scopus)

Hallervorden-Spatz Syndrome

Hayflick, S., 2003, Genetics of Movement Disorders. Elsevier Inc., p. 429-441 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pantothenate Kinase-Associated Neurodegeneration
Dystonic Disorders
Dysarthria
Globus Pallidus
Retinitis Pigmentosa