Author
Baylor College of MedicineORCID 0009-0009-3934-4453Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Donato Iacovazzo, Federica Begalli, Oniz Suleyman…·Márta Korbonits
The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.
Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski…·Fritz Joachim Sedlazeck
Sniffles2 improves SV detection accuracy and speed, enabling mosaic and population-level SV calling with applications in neurological disorders.
Christopher M. Grochowski, Jesse D. Bengtsson, Haowei Du…·Claudia M.B. Carvalho
The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.
Samantha M. Baxter, Jennifer Ellen Posey, Nicole J. Lake…·Kurt N. Hetrick
The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.