Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E, Smith, Edward C, Tan, Queenie K.-G, Shashi, Vandana
Published in Orphanet journal of rare diseases (04.09.2023)
Published in Orphanet journal of rare diseases (04.09.2023)
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Journal Article
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
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
Published in Genetics in medicine (01.07.2020)
Published in Genetics in medicine (01.07.2020)
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Journal Article
An Arabidopsis F-box protein acts as a transcriptional co-factor to regulate floral development
Chae, Eunyoung, Tan, Queenie K-G, Hill, Theresa A, Irish, Vivian F
Published in Development (Cambridge) (01.04.2008)
Published in Development (Cambridge) (01.04.2008)
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Journal Article
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
Gu, Shen, Chen, Chun‐An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin M., Waldrop, Megan A., Schrader, Rachel, Juusola, Jane, Goker‐Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Troncoso, Mónica, Pujol, Aurora, Tan, Queenie K.‐G., Schaaf, Christian P., Meng, Linyan
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Journal Article
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly
Hannah, William B., Ryan, Katherine, Pendyal, Surekha, Burrow, T. Andrew, Harley, Susan E., Cordell, Miranda, McCall, Chad M., Mavis, Alisha M., Tan, Queenie K.‐G., Kishnani, Priya S.
Published in American journal of medical genetics. Part A (01.11.2022)
Published in American journal of medical genetics. Part A (01.11.2022)
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Journal Article
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4
Gümüşderelioğlu, Selin, Resch, Lauren, Brock, Trisha, Luxton, G. W. Gant, Cope, Heidi, Tan, Queenie K.-G., Hopkins, Christopher, Starr, Daniel A.
Published in Disease models & mechanisms (01.08.2023)
Published in Disease models & mechanisms (01.08.2023)
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Journal Article
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound
Louie, Raymond J., Tan, Queenie K.‐G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Heparin-Binding Motifs and Biofilm Formation by Candida albicans
Green, Julianne V., Orsborn, Kris I., Zhang, Minlu, Tan, Queenie K. G., Greis, Kenneth D., Porollo, Alexey, Andes, David R., Lu, Jason Long, Hostetter, Margaret K.
Published in The Journal of infectious diseases (15.11.2013)
Published in The Journal of infectious diseases (15.11.2013)
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Journal Article
Premature Pubarche in Children with Pompe Disease
Tan, Queenie K.-G., MD, PhD, Stockton, David W., MD, Pivnick, Eniko, MD, Choudhri, Asim F., MD, Hines-Dowell, Stacy, DNP, APNG, Pena, Loren D.M., MD, PhD, Deimling, Melissa A., MD, Freemark, Michael S., MD, Kishnani, Priya S., MD
Published in The Journal of pediatrics (01.04.2015)
Published in The Journal of pediatrics (01.04.2015)
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Journal Article
Identification of EPCAM mutation: clinical use of microarray
Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
Published in Clinical case reports (01.06.2017)
Published in Clinical case reports (01.06.2017)
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Journal Article
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
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
Published in Journal of personalized medicine (18.11.2022)
Published in Journal of personalized medicine (18.11.2022)
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Journal Article
Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic
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
Published in Kidney medicine (01.02.2023)
Published in Kidney medicine (01.02.2023)
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Journal Article
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features
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
Published in Cold Spring Harbor molecular case studies (01.10.2018)
Published in Cold Spring Harbor molecular case studies (01.10.2018)
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Journal Article
Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention
Tan, Queenie K.-G., Cheah, Sue Mei, Dearmey, Stephanie M., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
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Journal Article
Regulation of APETALA3 floral homeotic gene expression by meristem identity genes
Lamb, Rebecca S, Hill, Theresa A, Tan, Queenie K-G, Irish, Vivian F
Published in Development (Cambridge) (01.05.2002)
Published in Development (Cambridge) (01.05.2002)
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Journal Article
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, Lupski, James R.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Journal Article
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Wolfe, Lynne, Horikoshi, Seishu, Ali, May, Barone, Rita, Campbell, Teresa, Chang, Irene J., Coles, Kiaira, Cook, Edward, Eklund, Erik A., Engelhardt, Nicole M., Freeman, Mary, Friedman, Jennifer, Fu, Debbie Y.T., Botzo, Grace, Rawls, Brandy, Hernandez, Christien, Johnsen, Christin, Keller, Kierstin, Kramer, Sara, Kuschel, Bryce, Leshinski, Angela, Martinez-Duncker, Ivan, Mazza, Gina L., Mercimek-Andrews, Saadet, Miller, Bradley S., Muthusamy, Karthik, Neira, Juanita, Patterson, Marc C., Pogorelc, Natalie, Powers, Lex N., Ramey, Elizabeth, Reinhart, Michaela, Squire, Audrey, Thies, Jenny, Vockley, Jerry, Vreugdenhil, Hayden, Witters, Peter, Youbi, Mehdi, Zeighami, Aziza, Zemet, Roni, Edmondson, Andrew C., Morava, Eva
Published in Molecular genetics and metabolism (01.08.2024)
Published in Molecular genetics and metabolism (01.08.2024)
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Journal Article
The importance of managing the patient and not the gene: expanded phenotype of GLE1 -associated arthrogryposis
Tan, Queenie K-G, McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E, Pizoli, Carolyn E, Buckley, Anne F, Jiang, Yong-Hui
Published in Cold Spring Harbor molecular case studies (01.11.2017)
Published in Cold Spring Harbor molecular case studies (01.11.2017)
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Journal Article