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

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

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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

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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

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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.

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Quantitative expression of the human kallikrein gene 9 (KLK9) in ovarian cancer : A new independent and favorable prognostic marker von YOUSEF, George M, KYRIAKOPOULOU, Lianna G, RICHIARDI, Giovanni, MASSOBRIO, Marco, DIAMANDIS, Eleftherios P, KATSAROS, Dionyssios, SCORILAS, Andreas, FRACCHIOLI, Stefano, GHIRINGHELLO, Bruno, ZARGHOONI, Maryam, CHANG, Albert, DIAMANDIS, Maria, GIARDINA, Giorgio, HARTWICK, Warren J

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Characterisation of a novel 49·3 kb Gγ(Aγδβ)0‐thalassaemia deletion in seven families of Asian descent von Waye, John S., Walker, Lynda, Kyriakopoulou, Lianna G., Potter, Murray A., Eng, Barry

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Characterisation of a novel 49.3 kb Ggamma(Agamma delta beta)(0) -thalassaemia deletion in seven families of Asian descent von Waye, John S, Walker, Lynda, Kyriakopoulou, Lianna G, Potter, Murray A, Eng, Barry

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Pharmacogenomics von Shao, Zhuo, Kyriakopoulou, Lianna G., Ito, Shinya

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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

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Molecular Cloning, Physical Mapping, and Expression Analysis of a Novel Gene, BCL2L12, Encoding a Proline-Rich Protein with a Highly Conserved BH2 Domain of the Bcl-2 Family von Scorilas, Andreas, Kyriakopoulou, Lianna, Yousef, George M., Ashworth, Linda K., Kwamie, Aku, Diamandis, Eleftherios P.

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