Fingerprint Dive into the research topics where Genomics is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.

Globoid Cell Leukodystrophy Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Screening Chemical Compounds
Phenotype Medicine & Life Sciences
Neurofibromatosis 1 Genes Medicine & Life Sciences
Cytoplasmic Dyneins Medicine & Life Sciences

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Research Output 2007 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Ansar, M., Ullah, F., Paracha, S. A., Adams, D., Lai, A., Pais, L., Iwaszkiewicz, J., Millan, F., Sarwar, M. T., Agha, Z., Shah, S. F., Qaisar, A. A., Falconnet, E., Zoete, V., Ranza, E., Makrythanasis, P., Santoni, F. A., Ahmed, J., Katsanis, N., Walsh, C. & 2 others, Davis, E. E. & Antonarakis, S. E., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1073-1087 15 p.

Research output: Contribution to journalArticle

Cytoplasmic Dyneins
Microcephaly
Intellectual Disability
Zebrafish
Clustered Regularly Interspaced Short Palindromic Repeats
2 Citations (Scopus)

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Muntau, A. C., Adams, D., Bélanger-Quintana, A., Bushueva, T. V., Cerone, R., Chien, Y. H., Chiesa, A., Coşkun, T., de las Heras, J., Feillet, F., Katz, R., Lagler, F., Piazzon, F., Rohr, F., van Spronsen, F. J., Vargas, P., Wilcox, G. & Bhattacharya, K., May 1 2019, In : Molecular Genetics and Metabolism. 127, 1, p. 1-11 11 p.

Research output: Contribution to journalReview article

Open Access
Phenylketonurias
Phenylalanine
Practice Guidelines
Blood
Phenylalanine Hydroxylase
37 Citations (Scopus)

GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, K., Yuan, H., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H. O., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., Adams, D., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S., Döcker, D. & 55 others, Strom, T. M., Mefford, H. C., Myers, C. T., Muir, A. M., LaCroix, A., Sadleir, L., Scheffer, I. E., Brilstra, E., van Haelst, M. M., van der Smagt, J. J., Bok, L. A., Møller, R. S., Jensen, U. B., Millichap, J. J., Berg, A. T., Goldberg, E. M., De Bie, I., Fox, S., Major, P., Jones, J. R., Zackai, E. H., Abou Jamra, R., Rolfs, A., Leventer, R. J., Lawson, J. A., Roscioli, T., Jansen, F. E., Ranza, E., Korff, C. M., Lehesjoki, A. E., Courage, C., Linnankivi, T., Smith, D. R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W. H., Tarnopolsky, M. A., Brady, L. I., Wolff, M., Dondit, L., Pedro, H. F., Parisotto, S. E., Jones, K. L., Patel, A. D., Franz, D. N., Vanzo, R., Marco, E., Ranells, J. D., Di Donato, N., Dobyns, W. B., Laube, B., Traynelis, S. F. & Lemke, J. R., Jul 1 2017, In : Journal of Medical Genetics. 54, 7, p. 460-470 11 p.

Research output: Contribution to journalArticle

Brain Diseases
Cluster Analysis
Phenotype
Memantine
Malformations of Cortical Development

Press/Media

Stock Weekly: CTD Holdings in its biggest weekly gain in 3 weeks

Darius Adams

9/27/19

1 item of Media coverage

Press/Media: Press / Media

Stock Weekly: CTD Holdings unchanged on extraordinary volume

Darius Adams

8/23/199/20/19

2 items of Media coverage

Press/Media: Press / Media

Stock Weekly: CTD Holdings jumps 12.5%, 6 weeks' volume in a week

Darius Adams

9/13/19

1 item of Media coverage

Press/Media: Press / Media