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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.

  • 1 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
Genetic Association Studies Medicine & Life Sciences
Phenylalanine Medicine & Life Sciences
WAGR Syndrome Medicine & Life Sciences

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Research Output 2004 2019

  • 686 Citations
  • 11 h-Index
  • 11 Article
  • 4 Review article
  • 1 Letter

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
Intellectual Disability
Clustered Regularly Interspaced Short Palindromic Repeats

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
Practice Guidelines
Phenylalanine Hydroxylase
35 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
Malformations of Cortical Development
27 Citations (Scopus)

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Jansen, E. J. R., Timal, S., Ryan, M., Ashikov, A., Van Scherpenzeel, M., Graham, L. A., Mandel, H., Hoischen, A., Iancu, T. C., Raymond, K., Steenbergen, G., Gilissen, C., Huijben, K., Van Bakel, N. H. M., Maeda, Y., Rodenburg, R. J., Adamowicz, M., Crushell, E., Koenen, H., Adams, D. & 13 others, Vodopiutz, J., Greber-Platzer, S., Müller, T., Dueckers, G., Morava, E., Sykut-Cegielska, J., Martens, G. J. M., Wevers, R. A., Niehues, T., Huynen, M. A., Veltman, J. A., Stevens, T. H. & Lefeber, D. J., May 27 2016, In : Nature Communications. 7, 11600.

Research output: Contribution to journalArticle

Adenosine Triphosphatases
33 Citations (Scopus)

Newborn screening for Krabbe disease in New York State: The first eight years' experience

Orsini, J. J., Kay, D. M., Saavedra-Matiz, C. A., Wenger, D. A., Duffner, P. K., Erbe, R. W., Biski, C., Martin, M., Krein, L. M., Nichols, M., Kurtzberg, J., Escolar, M. L., Adams, D., Arnold, G. L., Iglesias, A., Galvin-Parton, P., Kronn, D. F., Kwon, J. M., Levy, P. A., Pellegrino, J. E. & 3 others, Shur, N., Wasserstein, M. P. & Caggana, M., Mar 1 2016, In : Genetics in Medicine. 18, 3, p. 239-248 10 p.

Research output: Contribution to journalArticle

Globoid Cell Leukodystrophy
Newborn Infant
Dried Blood Spot Testing