Comparative genomics of canine hemoglobin genes reveals primacy of beta subunit delta in adult carnivores

por Zaldívar-López, Sara, Rowell, Jennie L., Fiala, Elise M., Zapata, Isain, Couto, C. Guillermo, Alvarez, Carlos E.
Publicado 2017

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature

por Hsu, Tina, Coughlin, Carrie C., Monaghan, Kristin G., Fiala, Elise, McKinstry, Robert C., Paciorkowski, Alex R., Shinawi, Marwan
Publicado 2017

Risk-modeling of dog osteosarcoma genome scans shows individuals with Mendelian-level polygenic risk are common

por Zapata, Isain, Moraes, Luis E., Fiala, Elise M., Zaldivar-Lopez, Sara, Couto, C. Guillermo, Rowell, Jennie L., Alvarez, Carlos E.
Publicado 2019

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

por Ichikawa, Shoji, Prockop, Susan, Cunningham-Rundles, Charlotte, Sifers, Travis, Conner, Blair R., Wu, Sitao, Karam, Rachid, Walsh, Michael F., Fiala, Elise
Publicado 2020

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

por Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L, Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K, Kozel, Beth A, Shinawi, Marwan
Publicado 2017

Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation

por Chen, Sisi, Vedula, Rahul S., Cuevas-Navarro, Antonio, Lu, Bin, Hogg, Simon J., Wang, Eric, Benbarche, Salima, Knorr, Katherine, Kim, Won Jun, Stanley, Robert F., Cho, Hana, Erickson, Caroline, Singer, Michael, Cui, Dan, Tittley, Steven, Durham, Benjamin H., Pavletich, Tatiana S., Fiala, Elise, Walsh, Michael F., Inoue, Daichi, Monette, Sebastien, Taylor, Justin, Rosen, Neal, McCormick, Frank, Lindsley, R. Coleman, Castel, Pau, Abdel-Wahab, Omar
Publicado 2022

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

por Fiala, Elise M., Ortiz, Michael V., Kennedy, Jennifer A., Glodzik, Dominik, Fleischut, Megan Harlan, Duffy, Kelly A., Hathaway, Evan R., Heaton, Todd, Gerstle, Justin T., Steinherz, Peter, Shukla, Neerav, McNeer, Nicole, Tkachuk, Kaitlyn, Bouvier, Nancy, Cadoo, Karen, Carlo, Maria I., Latham, Alicia, Dubard Gault, Marianne, Joseph, Vijai, Kemel, Yelena, Kentsis, Alex, Stadler, Zsofia, La Quaglia, Michael, Papaemmanuil, Elli, Friedman, Danielle, Ganguly, Arupa, Kung, Andrew, Offit, Kenneth, Kalish, Jennifer M., Walsh, Michael F.
Publicado 2020

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2018

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019