Research output per year
Research output per year
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Dive into the research topics where Division of Genetics is active. These topic labels come from the works of this organization's members. Together they form a unique 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
Profiles
Research output
- 92 Citations
- 5 h-index
- 8 Article
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Further delineation of the SCAF4-associated neurodevelopmental disorder
Schmid, C. M., Gregor, A., Ruiz, A., Manso Bazús, C., Herman, I., Ammouri, F., Kotzaeridou, U., McNiven, V., Dupuis, L., Steindl, K., Begemann, A., Rauch, A., Suter, A. A., Isidor, B., Mercier, S., Nizon, M., Cogné, B., Deb, W., Besnard, T. & Haack, T. B. & 61 others, , 2024, (Accepted/In press) In: European Journal of Human Genetics. 103.Research output: Contribution to journal › Article › peer-review
Open Access -
The adolescent health network: A unique approach to sustained adolescent stakeholder engagement
Sekhar, D. L., Hoke, A. M., Khan, M., Gordon, P. L., Conahan, E. K. & Kraschnewski, J. L., Sep 10 2024, In: Journal of Clinical and Translational Science. 8, 1, e116.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Holtz, A. M., VanCoillie, R., Vansickle, E. A., Carere, D. A., Withrow, K., Torti, E., Juusola, J., Millan, F., Person, R., Guillen Sacoto, M. J., Si, Y., Wentzensen, I. M., Pugh, J., Vasileiou, G., Rieger, M., Reis, A., Argilli, E., Sherr, E. H., Aldinger, K. A. & Dobyns, W. B. & 28 others, , Oct 2022, In: Genetics in Medicine. 24, 10, p. 2065-2078 14 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Newborn Screening for Pompe Disease: Pennsylvania Experience
Ficicioglu, C., Ahrens-Nicklas, R. C., Barch, J., Cuddapah, S. R., Diboscio, B. S., Diperna, J. C., Gordon, P. L., Henderson, N., Menello, C., Luongo, N., Ortiz, D. & Xiao, R., Dec 2020, In: International Journal of Neonatal Screening. 6, 4, 89.Research output: Contribution to journal › Article › peer-review
Open Access27 Scopus citations -
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations
The PKU Lost to Follow-Up Recommendations Group, Jun 2020, In: Molecular Genetics and Metabolism Reports. 23, 100571.Research output: Contribution to journal › Article › peer-review
Open Access22 Scopus citations -
A Curriculum for Clerkship Students to Foster Professionalism Through Reflective practice and identity Formation
Glod, S., Richard, D., Haidet, P., Gordon, P., Kees-Folts, D., Wolpaw, D., Yang, C., Moser, E. & Kreher, M., Jun 2016, In: MedEdPORTAL : the journal of teaching and learning resources.Research output: Contribution to journal › Article › peer-review
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An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies
Baker, M. J., Goldstein, A. M., Gordon, P. L., Harbaugh, K. S., Mackley, H. B., Glantz, M. J. & Drabick, J. J., Nov 1 2016, In: Journal of medical genetics. 53, 11, p. 721-727 7 p.Research output: Contribution to journal › Article › peer-review
Open Access22 Scopus citations -
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients
Gordon, P., Thomas, J. A., Suter, R. & Jurecki, E., Apr 2012, In: Molecular Genetics and Metabolism. 105, 4, p. 672-676 5 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations