LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

por Farncombe, Kirsten M., Thain, Emily, Barnett-Tapia, Carolina, Sadeghian, Hamid, Kim, Raymond H.
Publicado 2022

Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome

por Kim, Raymond H., Wang, Xiangling, Evans, Andrew J., Campbell, Steven C., Nguyen, Jane K., Farncombe, Kirsten M., Eng, Charis
Publicado 2020

VHL mosaicism: the added value of multi-tissue analysis

por Oldfield, Leslie E., Grzybowski, Jessica, Grenier, Sylvie, Chao, Elizabeth, Downs, Gregory S., Farncombe, Kirsten M., Stockley, Tracy L., Mete, Ozgur, Kim, Raymond H.
Publicado 2022

Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is

por Salehipour, Dena, Farncombe, Kirsten M, Andric, Veronica, Ansar, Safa, Delong, Sean, Li, Eric, Macpherson, Samantha, Ridd, Sarah, Ritter, Deborah I, Thaxton, Courtney, Kim, Raymond H
Publicado 2023

Incidental findings from cancer next generation sequencing panels

por Maani, Nika, Panabaker, Karen, McCuaig, Jeanna M., Buckley, Kathleen, Semotiuk, Kara, Farncombe, Kirsten M., Ainsworth, Peter, Panchal, Seema, Sadikovic, Bekim, Armel, Susan Randall, Lin, Hanxin, Kim, Raymond H.
Publicado 2021

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

por Manshaei, Roozbeh, DeLong, Sean, Andric, Veronica, Joshi, Esha, Okello, John B. A., Dhir, Priya, Somerville, Cherith, Farncombe, Kirsten M., Kalbfleisch, Kelsey, Jobling, Rebekah K., Scherer, Stephen W., Kim, Raymond H., Hosseini, S. Mohsen
Publicado 2022

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy

por Farncombe, Kirsten M., Wong, Derek, Norman, Maia L., Oldfield, Leslie E., Sobotka, Julia A., Basik, Mark, Bombard, Yvonne, Carile, Victoria, Dawson, Lesa, Foulkes, William D., Malkin, David, Karsan, Aly, Parkin, Patricia, Penney, Lynette S., Pollett, Aaron, Schrader, Kasmintan A., Pugh, Trevor J., Kim, Raymond H.
Publicado 2023

Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease

por Chiorean, Andreea, Farncombe, Kirsten M., Delong, Sean, Andric, Veronica, Ansar, Safa, Chan, Clarissa, Clark, Kaitlin, Danos, Arpad M., Gao, Yizhuo, Giles, Rachel H., Goldenberg, Anna, Jani, Payal, Krysiak, Kilannin, Kujan, Lynzey, Macpherson, Samantha, Maher, Eamonn R., McCoy, Liam G., Salama, Yasser, Saliba, Jason, Sheta, Lana, Griffith, Malachi, Griffith, Obi L., Erdman, Lauren, Ramani, Arun, Kim, Raymond H.
Publicado 2022

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

por Krysiak, Kilannin, Danos, Arpad M, Saliba, Jason, McMichael, Joshua F, Coffman, Adam C, Kiwala, Susanna, Barnell, Erica K, Sheta, Lana, Grisdale, Cameron J, Kujan, Lynzey, Pema, Shahil, Lever, Jake, Ridd, Sarah, Spies, Nicholas C, Andric, Veronica, Chiorean, Andreea, Rieke, Damian T, Clark, Kaitlin A, Reisle, Caralyn, Venigalla, Ajay C, Evans, Mark, Jani, Payal, Takahashi, Hideaki, Suda, Avila, Horak, Peter, Ritter, Deborah I, Zhou, Xin, Ainscough, Benjamin J, Delong, Sean, Kesserwan, Chimene, Lamping, Mario, Shen, Haolin, Marr, Alex R, Hoang, My H, Singhal, Kartik, Khanfar, Mariam, Li, Brian V, Lin, Wan-Hsin, Terraf, Panieh, Corson, Laura B, Salama, Yasser, Campbell, Katie M, Farncombe, Kirsten M, Ji, Jianling, Zhao, Xiaonan, Xu, Xinjie, Kanagal-Shamanna, Rashmi, King, Ian, Cotto, Kelsy C, Skidmore, Zachary L, Walker, Jason R, Zhang, Jinghui, Milosavljevic, Aleksandar, Patel, Ronak Y, Giles, Rachel H, Kim, Raymond H, Schriml, Lynn M, Mardis, Elaine R, Jones, Steven J M, Raca, Gordana, Rao, Shruti, Madhavan, Subha, Wagner, Alex H, Griffith, Malachi, Griffith, Obi L
Publicado 2022