Richard E Lutz, MD

Associate Professor

  • 553 Citations
  • 9 h-Index
1989 …2019
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Fingerprint Dive into the research topics where Richard E Lutz is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
pamidronate Medicine & Life Sciences
Mutation Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences
Cytochrome-c Oxidase Deficiency Medicine & Life Sciences
Hypophosphatasia Medicine & Life Sciences
Ornithine Carbamoyltransferase Deficiency Disease Medicine & Life Sciences
Smith-Lemli-Opitz Syndrome Medicine & Life Sciences
Olivopontocerebellar Atrophies Medicine & Life Sciences

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Research Output 1989 2019

  • 553 Citations
  • 9 h-Index
  • 16 Article
  • 2 Chapter
  • 1 Letter
  • 1 Review article
1 Citation (Scopus)

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype

Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R. & Yetman, A. T., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1270-1275 6 p.

Research output: Contribution to journalArticle

Protein Deficiency
Glycosylphosphatidylinositols
Phenotype
Protein Biosynthesis
N-Acetylglucosaminyltransferases

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

Pringsheim, M., Mitter, D., Schröder, S., Warthemann, R., Plümacher, K., Kluger, G., Baethmann, M., Bast, T., Braun, S., Büttel, H. M., Conover, E., Courage, C., Datta, A. N., Eger, A., Grebe, T. A., Hasse-Wittmer, A., Heruth, M., Höft, K., Kaindl, A. M., Karch, S. & 20 others, Kautzky, T., Korenke, G. C., Kruse, B., Lutz, R. E., Omran, H., Patzer, S., Philippi, H., Ramsey, K., Rating, T., Rieß, A., Schimmel, M., Westman, R., Zech, F. M., Zirn, B., Ulmke, P. A., Sokpor, G., Tuoc, T., Leha, A., Staudt, M. & Brockmann, K., Apr 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 655-668 14 p.

Research output: Contribution to journalArticle

Open Access
Neuroimaging
Corpus Callosum
Brain
Phenotype
Telencephalon
11 Citations (Scopus)

FOXG1 syndrome: Genotype-phenotype association in 83 patients with FOXG1 variants

Mitter, D., Pringsheim, M., Kaulisch, M., Plümacher, K. S., Schröder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Büttel, H. M., Cohen, J. S., Conover, E., Courage, C., Eger, A., Fatemi, A., Grebe, T. A., Hauser, N. S., Heinritz, W., Helbig, K. L., Heruth, M. & 21 others, Huhle, D., Höft, K., Karch, S., Kluger, G., Korenke, G. C., Lemke, J. R., Lutz, R. E., Patzer, S., Prehl, I., Hoertnagel, K., Ramsey, K., Rating, T., Rieß, A., Rohena, L., Schimmel, M., Westman, R., Zech, F. M., Zoll, B., Malzahn, D., Zirn, B. & Brockmann, K., Jan 1 2018, In : Genetics in Medicine. 20, 1, p. 98-108 11 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Phenotype
Genetic Counseling
Genotype
9 Citations (Scopus)

Capture-based high-coverage NGS: A powerful tool to uncover a wide spectrum of mutation types

Wang, J., Yu, H., Zhang, V. W., Tian, X., Feng, Y., Wang, G., Gorman, E., Wang, H., Lutz, R. E., Schmitt, E. S., Peacock, S. & Wong, L. J., May 1 2016, In : Genetics in Medicine. 18, 5, p. 513-521 9 p.

Research output: Contribution to journalArticle

Nucleotides
Chromosome Duplication
High-Throughput Nucleotide Sequencing
Mutation
Point Mutation
18 Citations (Scopus)

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Bali, D. S., Goldstein, J. L., Fredrickson, K., Rehder, C., Boney, A., Austin, S., Weinstein, D. A., Lutz, R. E., Boneh, A. & Kishnani, P. S., Mar 1 2014, In : Molecular Genetics and Metabolism. 111, 3, p. 309-313 5 p.

Research output: Contribution to journalArticle

Phosphorylase Kinase
Liver
Genes
Mutation
Glycogen