Pediatric Genetics & Metabolism

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being
  2. SDG 7 - Affordable and Clean Energy
    SDG 7 Affordable and Clean Energy
  3. SDG 9 - Industry, Innovation, and Infrastructure
    SDG 9 Industry, Innovation, and Infrastructure
  4. SDG 10 - Reduced Inequalities
    SDG 10 Reduced Inequalities
  5. SDG 16 - Peace, Justice and Strong Institutions
    SDG 16 Peace, Justice and Strong Institutions

Fingerprint

Dive into the research topics where Pediatric Genetics & Metabolism is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
View full fingerprint

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Explore network further
View all 9 profiles
View all 134 projects and grants

  • From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

    Casazza, K., Giugliani, R., Regier, D. S. & Jarnes, J., Jan 2026, In: Journal of Inherited Metabolic Disease. 49, 1, e70134.

    Research output: Contribution to journal › Review article › peer-review

    Open Access

  • Response to Kane and Coleman

    Basava, S. & Dobyns, W. B., Jan 2026, In: Genetics in Medicine. 28, 1, 101616.

    Research output: Contribution to journal › Letter › peer-review

  • A clinical and genotype-phenotype analysis of MACF1 variants

    Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., Oct 2 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 678 Research outputs
  • 1 Types of Award - Prize (including medals and awards)

  • Doctoral Dissertation Fellowship

    Ou, L. (Recipient)

    Sep 2015 → Aug 2016

    Activity: Other activity types › Types of Award - Prize (including medals and awards)

View all 7 fellowships, honors, and prizes