Research output per year
Research output per year
Profiles
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James Bartley, MD
- School of Medicine, Pediatric Genetics Division - Associate Professor
Person: Faculty
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Robin Clark, MD
- School of Medicine, Pathology Division - Professor
- School of Medicine, Pediatric Genetics Division - Professor
Person: Faculty
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June-Anne Gold, MBBS
- School of Medicine, Pediatric Genetics Division - Professor
- School of Medicine, Biochemistry Division - Professor
Person: Faculty
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
Calame, D. G., Wong, J. H., Panda, P., Nguyen, D. T., Leong, N. C. P., Sangermano, R., Patankar, S. G., Abdel-Hamid, M. S., AlAbdi, L., Safwat, S., Flannery, K. P., Dardas, Z., Fatih, J. M., Murali, C., Kannan, V., Lotze, T. E., Herman, I., Ammouri, F., Rezich, B. & Efthymiou, S. & 47 others, , Jan 2025, In: Genetics in Medicine. 27, 1, 101273.Research output: Contribution to journal › Article › peer-review
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Genetics Corner: A Newborn with Arthrogryposis Diagnosed with B4GALT7-Spondylodysplastic Ehlers-Danlos Syndrome via Whole Exome Sequencing Presenting with Long Bone Fracture
Wang, H., Jan 2025, In: Neonatology Today. 20, 1, p. 195-197 3 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetics Corner: Mini-Review: Rapid Whole Genome Sequencing (rWGS) and Whole Exome Sequencing (rWGS and rWES) in the NICU—Current Applications, Challenges, and Future Directions
Wang, H. & Hillyer, K. L., Feb 2025, In: Neonatology Today. 20, 2, p. 199-206 7 p.Research output: Contribution to journal › Article › peer-review
Open Access