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Fingerprint Dive into the research topics where Darius Adams is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Globoid Cell Leukodystrophy Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Mutation Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Phenylketonurias Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Phenylalanine Medicine & Life Sciences

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Research Output 2004 2019

  • 716 Citations
  • 11 h-Index
  • 13 Article
  • 4 Review article
  • 1 Letter
1 Citation (Scopus)

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. J., 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

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
3 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
39 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. J., 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

Stock Weekly: CTD Holdings accelerates decline: down 27.3% in 2 weeks

Darius Adams

9/6/19

1 item of Media coverage

Press/Media: Press / Media

Stock Weekly: CTD Holdings sinks 4.3%, 2 weeks' volume in a week

Darius Adams

8/16/19

1 item of Media coverage

Press/Media: Press / Media