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.

Phenotype Medicine & Life Sciences
synapses Physics & Astronomy
Phenylketonurias Medicine & Life Sciences
Zinc Fingers Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Phenylalanine Medicine & Life Sciences
Practice Guidelines Medicine & Life Sciences
disabilities Physics & Astronomy

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Research Output 2017 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., Xu, T., Ou, M., Hoekzema, K., Wu, H., Gillentine, M. A., Liu, C., Ni, H., Peng, P., Zhao, R., Zhang, Y., Phornphutkul, C., Stegmann, A. P. A., Prada, C. E., Hopkin, R. J. & 53 others, Shieh, J. T., McWalter, K., Monaghan, K. G., van Hasselt, P. M., van Gassen, K., Bai, T., Long, M., Han, L., Quan, Y., Chen, M., Zhang, Y., Li, K., Zhang, Q., Tan, J., Zhu, T., Liu, Y., Pang, N., Peng, J., Scott, D. A., Lalani, S. R., Azamian, M., Mancini, G. M. S., Adams, D. J., Kvarnung, M., Lindstrand, A., Nordgren, A., Pevsner, J., Osei-Owusu, I. A., Romano, C., Calabrese, G., Galesi, O., Gecz, J., Haan, E., Ranells, J., Racobaldo, M., Nordenskjold, M., Madan-Khetarpal, S., Sebastian, J., Ball, S., Zou, X., Zhao, J., Hu, Z., Xia, F., Liu, P., Rosenfeld, J. A., de Vries, B. B. A., Bernier, R. A., Xu, Z. Q. D., Li, H., Xie, W., Hufnagel, R. B., Eichler, E. E. & Xia, K., Sep 25 2019, In : Science Advances. 5, 9, eaax2166.

Research output: Contribution to journalArticle

Open Access
synapses
disabilities
seizures
proteins
Drosophila
2 Citations (Scopus)

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

Muntau, A. C., Adams, D. J., 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 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

Phenotype delineation of ZNF462 related syndrome

Kruszka, P., Hu, T., Hong, S., Signer, R., Cogné, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., Sanchez-Lara, P. A., Kinning, E., Adams, D. J., Treat, K., Torres-Martinez, W., Bedeschi, M. F., Iascone, M., Blaney, S. & 12 others, Bell, O., Tan, T. Y., Delrue, M. A., Jurgens, J., Barry, B. J., Engle, E. C., Savage, S. K., Fleischer, N., Martinez-Agosto, J. A., Boycott, K., Zackai, E. H. & Muenke, M., Oct 1 2019, In : American Journal of Medical Genetics, Part A. 179, 10, p. 2075-2082 8 p.

Research output: Contribution to journalArticle

Zinc Fingers
Phenotype
Proteins
Noonan Syndrome
Agenesis of Corpus Callosum

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