Identification of EPCAM mutation: clinical use of microarray

por Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
Publicado 2017

A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia-associated variants in kinesin light chain KLC4

por Gümüşderelioğlu, Selin, Resch, Lauren, Brock, Trisha, Luxton, G.W. Gant, Tan, Queenie K-G, Hopkins, Christopher, Starr, Daniel A.
Publicado 2023

A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4

por Gümüşderelioğlu, Selin, Resch, Lauren, Brock, Trisha, Luxton, G. W. Gant, Cope, Heidi, Tan, Queenie K.-G., Hopkins, Christopher, Starr, Daniel A.
Publicado 2023

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis

por Tan, Queenie K.-G., McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E., Pizoli, Carolyn E., Buckley, Anne F., Jiang, Yong-hui
Publicado 2017

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

por Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E., Smith, Edward C., Tan, Queenie K.-G., Shashi, Vandana
Publicado 2023

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

por Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana
Publicado 2020

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

por Beaman, Makenzie, Fisher, Kimberley, McDonald, Marie, Tan, Queenie K. G., Jackson, David, Cocanougher, Benjamin T., Landstrom, Andrew P., Hobbs, Charlotte A., Cotten, Michael, Cohen, Jennifer L.
Publicado 2022

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

por Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B.
Publicado 2018

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

por Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.
Publicado 2018

Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic

por Tan, Xin Yee, Borden, Chloe, Roberts, Mary-Beth, Mazzola, Sarah, Tan, Queenie K.-G., Fatica, Richard, Simon, James, Calle, Juan, Taliercio, Jonathan, Dell, Katherine, Provenzano, Laura Ferreira, Deitzer, Diana, Rincon-Choles, Hernan, Mehdi, Ali, Lioudis, Michael, Poggio, Emilio D., Nakhoul, Georges, Nurko, Saul, Ashour, Tarek, Bou Matar, Raed N., Kwon, Charles, Stephany, Brian, Thomas, George, Cheng, Yu-Wei, Leingang, Deanna, Alsadah, Adnan, Maditz, Rhyan, Robert, Heyka, Vachhrajani, Tushar, Sedor, John, Gadegbeku, Crystal, Wang, Xiangling
Publicado 2022

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

por Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Publicado 2021