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Pilot and Feasibility Studies|March 23, 2023
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencingMonisha Sebastin, Jacqueline A Odgis, Sabrina A Suckiel, et al.
American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.
American Journal of Medical Genetics. Part A|November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyElizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
American Journal of Human Genetics|November 20, 2024
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics researchMichelle A Ramos, Katherine E Bonini, Laura Scarimbolo, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 24, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genesMichael C Sierant, Sheng Chih Jin, Kaya Bilguvar, et al.
Nature Genetics|October 10, 2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsSheng Chih Jin, Jason Homsy, Samir Zaidi, et al.
American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
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