Research Output

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2018

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

28 Scopus citations

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

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

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

1 Scopus citations
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

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

Modeling PKAN in Mice and Flies

Sibon, O., Hayflick, S. & Tiranti, V., Jan 1 2015, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 905-913 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2014

Correlation of the same fields imaged in the TEM, confocal, LM, and microCT by image registration: From specimen preparation to displaying a final composite image

Keene, D. R., Tufa, S. F., Wong, M. H., Smith, N. R., Sakai, L. Y. & Horton, W. A., Jan 1 2014, Methods in Cell Biology. Academic Press Inc., p. 391-417 27 p. (Methods in Cell Biology; vol. 124).

Research output: Chapter in Book/Report/Conference proceedingChapter

11 Scopus citations

Understanding and Using Information about Cancer Genomes

Spellman, P. T., Stuart, J. & Gray, J. W., Mar 1 2014, The Molecular Basis of Cancer: Fourth Edition. Elsevier Inc., p. 357-368.e3

Research output: Chapter in Book/Report/Conference proceedingChapter

2013

BPAN. The Only X-Linked Dominant NBIA Disorder

Haack, T. B., Hogarth, P., Gregory, A., Prokisch, H. & Hayflick, S. J., 2013, International Review of Neurobiology. Academic Press Inc., p. 85-90 6 p. (International Review of Neurobiology; vol. 110).

Research output: Chapter in Book/Report/Conference proceedingChapter

23 Scopus citations

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

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

Daniel, C. J., Zhang, X. & Sears, R. C., Jan 1 2013, The Myc Gene: Methods and Protocols. Humana Press Inc., p. 65-76 12 p. (Methods in Molecular Biology; vol. 1012).

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

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

Hereditary Motor and Sensory Neuropathies

Wiszniewski, W., Szigeti, K. & Lupski, J. R., Aug 29 2013, Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier Ltd, p. 1-24 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations

Molecular Correlates of Morphometric Subtypes in Glioblastoma Multiforme

Chang, H., Fontenay, G. V., Bilgin, C. C., Borowsky, A., Spellman, P. & Parvin, B., Dec 1 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

Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN). Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes

Kurian, M. A. & Hayflick, S. J., 2013, International Review of Neurobiology. Academic Press Inc., p. 49-71 23 p. (International Review of Neurobiology; vol. 110).

Research output: Chapter in Book/Report/Conference proceedingChapter

44 Scopus citations
2011

Birth defects and dysmorphic features

Tsai, A. C. H., Dec 1 2011, Berman's Pediatric Decision Making. Elsevier Inc., p. 674-679 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn errors of fatty acid oxidation

Gillingham, M. B. & 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

Inborn Errors of Metabolism

Smith, L. & Harding, C. O., Dec 1 2011, Pediatric Critical Care. Elsevier Inc., p. 1089-1104 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2010

Eye-of-the-Tiger Sign

Hayflick, S., Jan 1 2010, Encyclopedia of Movement Disorders. Elsevier Inc., p. 471-472 2 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hallervorden-Spatz Syndrome (PKAN)

Hayflick, S., Jan 1 2010, Encyclopedia of Movement Disorders. Elsevier Inc., p. 1-3 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Molecular Genetic Testing for X-linked Mental Retardation Disorders

Roa, B. & Wiszniewska, J., Dec 1 2010, Molecular Diagnostics. Elsevier Inc., p. 167-176 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2009

Chromosomal Disorders and Fragile x Syndrome

Tsai, A. C. H., Pickler, L., Tartaglia, N. & Hagerman, R., Dec 1 2009, Developmental-Behavioral Pediatrics. Elsevier Inc., p. 224-234 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Connective Tissue Pathways That Regulate Growth Factors

Sengle, G., Charbonneau, N. L., Ono, R. N. & Sakai, L. Y., 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

DNA Replication

Hejna, J. A. & Moses, R. E., Jan 1 2009, Encyclopedia of Microbiology. Elsevier Inc., p. 113-122 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2008

Cancer Genomics

Spellman, P. T., Costello, J. F. & Gray, J. W., Dec 1 2008, The Molecular Basis of Cancer. Elsevier Inc., p. 267-282 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2006

Inborn Errors of Metabolism

Smith, L. & Harding, C. O., Dec 1 2006, Pediatric Critical Care. Mosby Inc., p. 1085-1104 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Nutrition therapies for inborn errors of metabolism

Thomas, J. A., Tsai, A. & Bernstein, L., Jan 1 2006, Neonatal Nutrition and Metabolism, Second Edition. Cambridge University Press, p. 544-568 25 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

2003

Hallervorden-Spatz Syndrome

Hayflick, S. J., Jan 1 2003, Genetics of Movement Disorders. Elsevier Inc., p. 429-441 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations