Not logged in Share Save
Share Save
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods 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 Share Save
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel 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 Share Save
Trio RNA sequencing in a cohort of medically complex children Deshwar, Ashish R.; Yuki, Kyoko E.; Hou, Huayu; Liang, Yijing; Khan, Tayyaba; Celik, Alper; Ramani, Arun; Mendoza-Londono, Robert; Marshall, Christian R.; Brudno, Michael; Shlien, Adam; Meyn, M. Stephen; Hayeems, Robin Z.; McKinlay, Brandon J.; Klentrou, Panagiot; Wilson, Michael D.; Kyriakopoulou, Liann; Costain, Gregory; Dowling, James J. Share Save
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations Villani, Anita; Davidson, Scott; Kanwar, Nisha; Lo, Winnie W. 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. D.; Ramani, Arun K. K.; Yuki, Kyoko E. E.; Blay, Sasha; Johnstone, Brittney; Inglese, Cara; Hammad, Rawan; Goudie, Catherine; Shuen, Andrew; Wasserman, Jonathan D. D.; Venier, Rosemarie E. E.; Eliou, Marianne; Lorenti, Miranda; Ryan, Carol Ann; Braga, Michael; Gloven-Brown, Meagan; Han, Jianan A.; Montero, Maria; Spatare, Famida; Whitlock, James A. A.; Scherer, Stephen W. W.; Chun, Kathy; Somerville, Martin J. J.; Hawkins, Cynthia; Abdelhaleem, Mohamed; Ramaswamy, Vijay; Somers, Gino R. R.; Kyriakopoulou, Lianna; Hitzler, Johann; Shago, Mary; Morgenstern, Daniel A. A.; Tabori, Uri; Meyn, Stephen; Irwin, Meredith S. S.; Malkin, David; Shlien, Adam Share Save
The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF 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. Share Save
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II Al Teneiji, Amal; Bruun, Theodora Uj.; Sidky, Sarah; Cordeiro, Dawn; Cohn, Ronald D.; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Siriwardena, Komudi; Kyriakopoulou, Lianna; Mercimek-Mahmutoglu, Saadet Share Save
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A.; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W.; Loh, Alvin Share Save
Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals Morkrid, Lars; Rowe, Alexander D.; Elgstoen, Katja B. P.; Olesen, Jess H.; Ruijter, George; Hall, Patricia L.; Tortorelli, Silvia; Schulze, Andreas; Kyriakopoulou, Lianna; Wamelink, Miljam M. C.; van de Kamp, Jiddeke M.; Salomons, Gajja S.; Rinaldo, Piero Share Save
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study Mercimek-Mahmutoglu, Saadet; Sidky, Sarah; Hyland, Keith; Patel, Jaina; Donner, Elizabeth J.; Logan, William; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Yoon, Grace; Kyriakopoulou, Lianna Share Save
Share Save
Share Save
Share Save
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 Konforte, Danijela; Shea, Jennifer L.; Kyriakopoulou, Lianna; Colantonio, David; Cohen, Ashley H.; Shaw, Julie; Bailey, Dana; Chan, Man Khun; Armbruster, David; Adeli, Khosrow Share Save
Share Save
Share Save
Share Save
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 Scorilas, A; Kyriakopoulou, L; Yousef, GM; Ashworth, LK; Kwamie, A; Diamandis, EP Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
