Considerations for applying emerging technologies in paediatric laboratory medicine von Lang, Tim, Geaghan, Sharon, Loh, Tze Ping, Mak, Chloe, Papassotiriou, Ioannis, Kyriakopoulou, Lianna G.

Volltext

Closing the Gaps in Pediatric Laboratory Reference Intervals: A CALIPER Database of 40 Biochemical Markers in a Healthy and Multiethnic Population of Children von COLANTONIO, David A, KYRIAKOPOULOU, Lianna, KHUN CHAN, Man, DALY, Caitlin H, BRINE, Davor, VENNER, Allison A, PASIC, Maria D, ARMBRUSTER, David, ADELI, Khosrow

Volltext

Marked biological variance in endocrine and biochemical markers in childhood: establishment of pediatric reference intervals using healthy community children from the CALIPER cohor... von Bailey, Dana, Colantonio, David, Kyriakopoulou, Lianna, Cohen, Ashley H, Chan, Man Khun, Armbruster, David, Adeli, Khosrow

Volltext

A novel deep intronic variant in LAMA2 identified by RNA sequencing von Djordjevic, Djurdja, Alawneh, Issa, Amburgey, Kimberly, Yuki, Kyoko E., Kyriakopoulou, Lianna G, Navickiene, Vilma, Stavropoulos, Jim, Yoon, Grace, Dowling, James J, Gonorazky, Hernan

Volltext

Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations von Cottrell, Justin, Dixon, Peter, Cao, Xingshan, Kiss, Alex, Smilsky, Kari, Kaminskas, Kassandra, Ng, Amy, Shipp, David, Dimitrijevic, Andrew, Chen, Joseph, Lin, Vincent, Kyriakopoulou, Lianna, Le, Trung

Volltext

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II von Al Teneiji, Amal, Bruun, Theodora U.J., Sidky, Sarah, Cordeiro, Dawn, Cohn, Ronald D, Mendoza-Londono, Roberto, Moharir, Mahendranath, Raiman, Julian, Siriwardena, Komudi, Kyriakopoulou, Lianna, Mercimek-Mahmutoglu, Saadet

Volltext

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods von Oh, Rachel Y., AlMail, Ali, Cheerie, David, Guirguis, George, Hou, Huayun, Yuki, Kyoko E., Haque, Bushra, Thiruvahindrapuram, Bhooma, Marshall, Christian R., Mendoza-Londono, Roberto, Shlien, Adam, Kyriakopoulou, Lianna G., Walker, Susan, Dowling, James J., Wilson, Michael D., Costain, Gregory

Volltext

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing von Dupuis, Lucie, Szuto, Anna, Marshall, Christian, Kyriakopoulou, Lianna, Mendoza-Londono, Roberto, McNiven, Vanda

Volltext

The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF von Eckford, Paul D.W., McCormack, Jacqueline, Munsie, Lise, He, Gengming, Stanojevic, Sanja, Pereira, Sergio L., Ho, Karen, Avolio, Julie, Bartlett, Claire, Yang, Jin Ye, Wong, Amy P., Wellhauser, Leigh, Huan, Ling Jun, Jiang, Jia Xin, Ouyang, Hong, Du, Kai, Klingel, Michelle, Kyriakopoulou, Lianna, Gonska, Tanja, Moraes, Theo J., Strug, Lisa J., Rossant, Janet, Ratjen, Felix, Bear, Christine E.

Volltext

Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism von Sin, Yuan Yan, Ballantyne, Laurel L, Mukherjee, Kamalika, St Amand, Tim, Kyriakopoulou, Lianna, Schulze, Andreas, Funk, Colin D

Volltext

Strategies to rescue the consequences of inducible arginase-1 deficiency in mice von Ballantyne, Laurel L, Sin, Yuan Yan, St Amand, Tim, Si, Joshua, Goossens, Steven, Haenebalcke, Lieven, Haigh, Jody J, Kyriakopoulou, Lianna, Schulze, Andreas, Funk, Colin D

Volltext

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses von Jilani, Abdulhakim, Matviychuk, Diana, Blaser, Susan, Dyack, Sarah, Mathieu, Jean, Prasad, Asuri N., Prasad, Chitra, Kyriakopoulou, Lianna, Mercimek‐Andrews, Saadet

Volltext

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect von Mercimek-Mahmutoglu, Saadet, Corderio, Dawn, Nagy, Laura, Mutch, Carly, Carter, Melissa, Struys, Eduard, Kyriakopoulou, Lianna

Volltext

Human Kallikrein Gene 5 (KLK5) Expression by Quantitative PCR: An Independent Indicator of Poor Prognosis in Breast Cancer von Yousef, George M, Scorilas, Andreas, Kyriakopoulou, Lianna G, Rendl, Laura, Diamandis, Maria, Ponzone, Riccardo, Biglia, Nicoletta, Giai, Maurizia, Roagna, Riccardo, Sismondi, Piero, Diamandis, Eleftherios P

Volltext

Prognostic value of quantitatively assessed KLK7 expression in ovarian cancer von Kyriakopoulou, Lianna G., Yousef, George M., Scorilas, Andreas, Katsaros, Dionyssios, Massobrio, Marco, Fracchioli, Stefano, Diamandis, Eleftherios P.

Volltext

Trio RNA sequencing in a cohort of medically complex children von Deshwar, Ashish R., Yuki, Kyoko E., Hou, Huayun, Liang, Yijing, Khan, Tayyaba, Celik, Alper, Ramani, Arun, Mendoza-Londono, Roberto, Marshall, Christian R., Brudno, Michael, Shlien, Adam, Meyn, M. Stephen, Hayeems, Robin Z., McKinlay, Brandon J., Klentrou, Panagiota, Wilson, Michael D., Kyriakopoulou, Lianna, Costain, Gregory, Dowling, James J.

Volltext

Complex biological pattern of fertility hormones in children and adolescents: a study of healthy children from the CALIPER cohort and establishment of pediatric reference intervals von Konforte, Danijela, Shea, Jennifer L, Kyriakopoulou, Lianna, Colantonio, David, Cohen, Ashley H, Shaw, Julie, Bailey, Dana, Chan, Man Khun, Armbruster, David, Adeli, Khosrow

Volltext

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l -arginine supplementation alternative to lysine-restricted diet von Mercimek-Mahmutoglu, Saadet, Cordeiro, Dawn, Cruz, Vivian, Hyland, Keith, Struys, Eduard A, Kyriakopoulou, Lianna, Mamak, Eva

Volltext

Variant classification for Pompe disease; ACMG/AMP specifications from the ClinGen lysosomal diseases variant curation expert panel von Goldstein, Jennifer L., McGlaughon, Jennifer, Kanavy, Dona, Goomber, Shelly, Pan, Yinghong, Deml, Brett, Donti, Taraka, Kearns, Liz, Seifert, Bryce A., Schachter, Miriam, Son, Rachel G., Thaxton, Courtney, Udani, Rupa, Bali, Deeksha, Baudet, Heather, Caggana, Michele, Hung, Christina, Kyriakopoulou, Lianna, Rosenblum, Lynne, Steiner, Robert, Pinto e Vairo, Filippo, Wang, Yang, Watson, Michael, Fernandez, Raquel, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine

Volltext

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations von Villani, Anita, Davidson, Scott, Kanwar, Nisha, Lo, Winnie W, Li, Yisu, Cohen-Gogo, Sarah, Fuligni, Fabio, Edward, Lisa-Monique, Light, Nicholas, Layeghifard, Mehdi, Harripaul, Ricardo, Waldman, Larissa, Gallinger, Bailey, Comitani, Federico, Brunga, Ledia, Hayes, Reid, Anderson, Nathaniel D, Ramani, Arun K, Yuki, Kyoko E, Blay, Sasha, Johnstone, Brittney, Inglese, Cara, Hammad, Rawan, Goudie, Catherine, Shuen, Andrew, Wasserman, Jonathan D, Venier, Rosemarie E, Eliou, Marianne, Lorenti, Miranda, Ryan, Carol Ann, Braga, Michael, Gloven-Brown, Meagan, Han, Jianan, Montero, Maria, Spatare, Famida, Whitlock, James A, Scherer, Stephen W, Chun, Kathy, Somerville, Martin J, Hawkins, Cynthia, Abdelhaleem, Mohamed, Ramaswamy, Vijay, Somers, Gino R, Kyriakopoulou, Lianna, Hitzler, Johann, Shago, Mary, Morgenstern, Daniel A, Tabori, Uri, Meyn, Stephen, Irwin, Meredith S, Malkin, David, Shlien, Adam

Volltext