Pediatrics Genetics

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Reading Medicine & Life Sciences
Dyslexia Medicine & Life Sciences
Genes Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Language Medicine & Life Sciences
Quantitative Trait Loci Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Profiles

No photo of James D Eudy

James D Eudy, PhD

Person: Academic

19962020
No photo of Richard E Lutz

Richard E Lutz, MD

Person: Academic

19892019

Projects 1984 2019

The Molecular Biology of Neurosensory Systems

Walsh, E. J., Gurumurthy, C., Eudy, J. D., Smith, S. D., Wert, D. & Gurumurthy, C. B.

National Institutes of Health

9/5/148/31/19

Project: Research project

Genes
biology
mentoring
Molecular biology
DNA
Dyslexia
Reading
Genes
Phenotype
Nuclear Family
Deafness
Hearing Loss
Genes
Organism Cloning
Dominant Genes

Research Output 1975 2019

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 764-765 2 p.

Research output: Contribution to journalComment/debate

Gene Deletion
Medicine
Phenotype
5 Citations (Scopus)

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Phenotype
Neurofibroma
Skin
1 Citation (Scopus)

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D. & 25 others, Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B. & Schulte-Körne, G., Dec 1 2019, In : Translational Psychiatry. 9, 1, 77.

Research output: Contribution to journalArticle

Open Access
Dyslexia
Genome-Wide Association Study
Attention Deficit Disorder with Hyperactivity
Reading
Genome