Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts von Liwak-Muir, Urszula, Mamady, Hapsatou, Naas, Turaya, Wylie, Quinlan, McBride, Skye, Lines, Matthew, Michaud, Jean, Baird, Stephen D, Chakraborty, Pranesh K, Holcik, Martin

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) von Chakraborty, Pranesh K., Schmitz-Abe, Klaus, Kennedy, Erin K., Mamady, Hapsatou, Naas, Turaya, Durie, Danielle, Campagna, Dean R., Lau, Ashley, Sendamarai, Anoop K., Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia-Jane, Klaassen, Robert J., Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Wynn, Robert F., Laxer, Ronald M., Minniti, Caterina P., Moppett, John, Bordon, Victoria, Geraghty, Michael, Joyce, Paul B.M., Markianos, Kyriacos, Rudner, Adam D., Holcik, Martin, Fleming, Mark D.

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Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets von Azzopardi, Paul J., Upshur, Ross, Luca, Stephanie, Venkataramanan, Viji, Potter, Beth K., Chakraborty, Pranesh K., Hayeems, Robin Z.

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ERK8 is a novel HuR kinase that regulates tumour suppressor PDCD4 through a miR-21 dependent mechanism von Liwak-Muir, Urszula, Dobson, Christine C, Naing, Thet, Wylie, Quinlan, Chehade, Lucia, Baird, Stephen D, Chakraborty, Pranesh K, Holcik, Martin

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Early hearing detection and intervention in Canada von Khurana, Puneeta, Cushing, Sharon L, Chakraborty, Pranesh K, Dunn, Jessica K, Papaioannou, Vicky A, Moodie, Rosemary G, Papsin, Blake C, Wong, Peter D

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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype von Braverman, Nancy, Chen, Li, Lin, Paul, Obie, Cassandra, Steel, Gary, Douglas, Pamela, Chakraborty, Pranesh K., Clarke, Joe T.R., Boneh, Avihu, Moser, Ann, Moser, Hugo, Valle, David

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Gender-specific differences in the psychosocial adjustment of parents of a child with duchenne muscular dystrophy (DMD) - Two points of view for a shared experience von Tomiak, Eva M, Samson, Andre, Miles, Sarah A, Choquette, Mireille C, Chakraborty, Pranesh K, Jacob, Pierre J

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Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene von BURWINKEL, Barbara, ROOTWELT, Terje, KVITTINGEN, Eli. Anne, CHAKRABORTY, Pranesh K, KILIMANN, Manfred W

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Genderspecific differences in the psychosocial adjustment of parents of a child with duchenne muscular dystrophy DMD Two points of view for a shared experience von Tomiak, Eva M., Samson, Andre, Miles, Sarah A., Choquette, Mireille C., Chakraborty, Pranesh K., Jacob, Pierre J.

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Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype von Braverman, Nancy, Chen, Li, Lin, Paul, Obie, Cassandra, Steel, Gary, Douglas, Pamela, Chakraborty, Pranesh K., Clarke, Joe T.R., Boneh, Avihu, Moser, Ann, Moser, Hugo, Valle, David

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A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability von Fairfax, Alana, Brehaut, Jamie, Colman, Ian, Sikora, Lindsey, Kazakova, Alessia, Chakraborty, Pranesh, Potter, Beth K

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Dried blood spot specimens for SARS-CoV-2 antibody testing: A multi-site, multi-assay comparison von Cholette, François, Mesa, Christine, Harris, Angela, Ellis, Hannah, Cachero, Karla, Lacap, Philip, Galipeau, Yannick, Langlois, Marc-André, Gingras, Anne-Claude, Yansouni, Cedric P, Papenburg, Jesse, Cheng, Matthew P, Chakraborty, Pranesh, Stein, Derek R, Van Caeseele, Paul, Bartlett, Sofia, Krajden, Mel, Goldfarb, David, McGeer, Allison, Osiowy, Carla, Hankins, Catherine, Mazer, Bruce, Drebot, Michael, Kim, John

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Development and external validation of machine learning algorithms for postnatal gestational age estimation using clinical data and metabolomic markers von Hawken, Steven, Ducharme, Robin, Murphy, Malia S Q, Olibris, Brieanne, Bota, A Brianne, Wilson, Lindsay A, Cheng, Wei, Little, Julian, Potter, Beth K, Denize, Kathryn M, Lamoureux, Monica, Henderson, Matthew, Rittenhouse, Katelyn J, Price, Joan T, Mwape, Humphrey, Vwalika, Bellington, Musonda, Patrick, Pervin, Jesmin, Chowdhury, A K Azad, Rahman, Anisur, Chakraborty, Pranesh, Stringer, Jeffrey S A, Wilson, Kumanan

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Maximizing Benefits and Minimizing Harms: Diagnostic Uncertainty Arising From Newborn Screening von Chakraborty, Pranesh, Potter, Beth K, Hayeems, Robin Z

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Accurate prediction of gestational age using newborn screening analyte data von Wilson, Kumanan, MD, MSc, FRCPC, Hawken, Steven, PhD, Potter, Beth K., PhD, Chakraborty, Pranesh, MD, FRCPC, FCCMG, Walker, Mark, MD, FRCS(C), MSc(epi), MScHCM, Ducharme, Robin, MSc, Little, Julian, MA, PhD

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The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability von Strasser, Lauren, Doja, Asif, Davila, Jorge, Chakraborty, Pranesh, Bourque, Danielle K

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External validation of postnatal gestational age estimation using newborn metabolic profiles in Matlab, Bangladesh von Murphy, Malia Sq, Hawken, Steven, Cheng, Wei, Wilson, Lindsay A, Lamoureux, Monica, Henderson, Matthew, Pervin, Jesmin, Chowdhury, Azad, Gravett, Courtney, Lackritz, Eve, Potter, Beth K, Walker, Mark, Little, Julian, Rahman, Anisur, Chakraborty, Pranesh, Wilson, Kumanan

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Transient vs Permanent Congenital Hypothyroidism in Ontario, Canada: Predictive Factors and Scoring System von Marr, Alexa, Yokubynas, Nicole, Tang, Ken, Saleh, David, Wherrett, Diane K, Stein, Robert, Bassilious, Ereny, Chakraborty, Pranesh, Lawrence, Sarah E

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Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research von Tingley, Kylie, Coyle, Doug, Graham, Ian D, Chakraborty, Pranesh, Wilson, Kumanan, Potter, Beth K

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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) von Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia J., Klaassen, Robert J., Chakraborty, Pranesh, Geraghty, Michael T., Major-Cook, Nathalie, Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Fleming, Mark D., Wynn, Robert F.

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