Medical & Molecular Genetics

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Genes Medicine & Life Sciences
Alzheimer Disease Medicine & Life Sciences
Alcoholism Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences

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Profiles

No photo of Kenneth Cornetta

Kenneth Cornetta

Person: Academic

19772020
No photo of Stephen Dlouhy

Stephen Dlouhy

Person: Academic

19792018
No photo of Tatiana Foroud

Tatiana Foroud

Person: Academic

19762021

NIH Grants 1976 2021

Mass spectrometry
Proteins
RNA
Explosions
Data structures
Exome
Parkinson Disease
Genes
Pedigree
Neurodegenerative Diseases

NINDS Biomarker Repository

Foroud, T.

National Institutes of Health

9/30/159/29/20

Project: Research project

National Institute of Neurological Disorders and Stroke
Biomarkers
Aptitude
Parkinson Disease
Alzheimer Disease

Publications 1977 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In : Human Mutation. 41, 1, p. 299-315 17 p.

Research output: Contribution to journalArticle

Open Access
Neurofibroma
Neurofibromatosis 1
Plexiform Neurofibroma
Optic Nerve Glioma
Cardiovascular Abnormalities

Replication-Competent Lentivirus Analysis of Vector-Transduced T Cell Products Used in Cancer Immunotherapy Clinical Trials

Cornetta, K., Koop, S., Nance, E., House, K. & Duffy, L., Jan 1 2020, Methods in Molecular Biology. Humana Press Inc., p. 181-194 14 p. (Methods in Molecular Biology; vol. 2086).

Research output: Chapter in Book/Report/Conference proceedingChapter

Lentivirus
Immunotherapy
Clinical Trials
T-Lymphocytes
Neoplasms
1 Citation (Scopus)

Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders

Rao, X., Thapa, K. S., Chen, A. B., Lin, H., Gao, H., Reiter, J. L., Hargreaves, K. A., Ipe, J., Lai, D., Xuei, X., Wang, Y., Gu, H., Kapoor, M., Farris, S. P., Tischfield, J., Foroud, T., Goate, A. M., Skaar, T. C., Mayfield, R. D., Edenberg, H. J. & 1 others, Liu, Y., Jan 1 2019, (Accepted/In press) In : Molecular Psychiatry.

Research output: Contribution to journalArticle

Alleles
Single Nucleotide Polymorphism
Alcohols
Genome-Wide Association Study
3' Untranslated Regions