Not logged in Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza Share Save
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy Rossi, Alessandro; Romano, Roberta; Fecarotta, Simona; Dell'Anno, Margherita; Pecorella, Valentina; Passeggio, Roberta; Zancan, Stefano; Parenti, Giancarlo; Santamaria, Francesca; Borgia, Francesco; Deodato, Federica; Funghini, Silvia; Rupar, Charles A.; Prasad, Chitra; O'Callaghan, Mar; Mitchell, John J.; Valsecchi, Maria Grazia; la Marca, Giancarlo; Galimberti, Stefania; Auricchio, Alberto; Brunetti-Pierri, Nicola Share Save
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan Share Save
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Se Bastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan Share Save
Family-centred care interventions for children with chronic conditions: A scoping review Chow, Andrea J.; Saad, Ammar; Al-Baldawi, Zobaida; Iverson, Ryan; Skidmore, Becky; Jordan, Isabel; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Brehaut, Jamie; Cohen, Eyal; Dyack, Sarah; Gillis, Jane; Goobie, Sharan; Greenberg, Cheryl R.; Hayeems, Robin; Hutton, Brian; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Khangura, Sara; Mackenzie, Jennifer J.; Mitchell, John J.; Moazin, Zeinab; Nicholls, Stuart G.; Pender, Amy; Prasad, Chitra; Schulze, Andreas; Siriwardena, Komudi; Sparkes, Rebecca N.; Speechley, Kathy N.; Stockler, Sylvia; Taljaard, Monica; Teitelbaum, Mari; Trakadis, Yannis; Van Karnebeek, Clara; Walia, Jagdeep S.; Wilson, Kumanan; Potter, Beth K. Share Save
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David Share Save
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants Allen, James P.; Garber, Kathryn B.; Perszyk, Riley; Khayat, Cara T.; Kell, Steven A.; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L.; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N.; Olewiler, Leah; Mu, Weiyu; Rosenthal, Liana S.; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W.; Jauss, Robin-Tobias; Lemke, Johannes R.; MacLean, David M.; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J.; Traynelis, Stephen F. Share Save
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy Coughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara Share Save
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes Yang, Jennifer H.; Friederich, Marisa W.; Ellsworth, Katarzyna A.; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C.; Rupar, C. Anthony; Hegele, Robert A.; Manickam, Kandamurugu; Koboldt, Daniel C.; Crist, Erin; Choi, Samantha S.; Farhan, Sali M. K.; Harvey, Helen; Sattar, Shifteh; Karp, Natalya; Wong, Terence; Haas, Richard; Van Hove, Johan L. K.; Wigby, Kristen Share Save
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Geraghty, Michael T.; Irwin, Julie K.; Mitchell, John J.; Stockler, Sylvia; Nicholls, Stuart G.; Offringa, Martin; Rahman, Alvi; Tessier, Laure A.; Butcher, Nancy J.; Iverson, Ryan; Lamoureux, Monica; Clifford, Tammy J.; Hutton, Brian; Paik, Karen; Tao, Jessica; Skidmore, Becky; Coyle, Doug; Duddy, Kathleen; Dyack, Sarah; Greenberg, Cheryl R.; Jain Ghai, Shailly; Karp, Natalya; Korngut, Lawrence; Kronick, Jonathan; MacKenzie, Alex; MacKenzie, Jennifer; Maranda, Bruno; Potter, Murray; Prasad, Chitra; Schulze, Andreas; Sparkes, Rebecca; Taljaard, Monica; Trakadis, Yannis; Walia, Jagdeep; Potter, Beth K. Share Save
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey Chow, Andrea J.; Pugliese, Michael; Tessier, Laure A.; Chakraborty, Pranesh; Iverson, Ryan; Coyle, Doug; Kronick, Jonathan B.; Wilson, Kumanan; Hayeems, Robin; Al-Hertani, Walla; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Laberge, Anne-Marie; Little, Julian; Mitchell, John J.; Prasad, Chitra; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N.; Stockler, Sylvia; Trakadis, Yannis; Walia, Jagdeep S.; Wilson, Brenda J.; Potter, Beth K. Share Save
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A.; Jongmans, Marjolijn C. J.; Pfundt, Rolph; Prasad, Chitra; Berard, Roberta A.; Fannemel, Madeleine; Frengen, Eirik; Misceo, Doriana; Ramsey, Keri; Yang, Yaping; Schaaf, Christian P.; Wang, Xia Share Save
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Drivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Marielle; Altmueller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coeslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Blok, Lot Snijders; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth Share Save
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael; Geraghty, Michael T.; Kronick, Jonathan B.; Potter, Beth K.; Coyle, Doug; Wilson, Kumanan; Kowalski, Michael; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Chan, Alicia K. J.; Dyack, Sarah; Feigenbaum, Annette; Giezen, Alette; Goobie, Sharan; Greenberg, Cheryl R.; Ghai, Shailly Jain; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mohan, Connie; Mhanni, Aizeddin; Mitchell, Grant; Mitchell, John J.; Nagy, Laura; Napier, Melanie; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vallance, Hilary; Vandersteen, Anthony; Walia, Jagdeep; Wilson, Ashley; Wilson, Brenda J.; Yu, Andrea C.; Yuskiv, Nataliya; Chakraborty, Pranesh Share Save
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Rahman, Alvi; Chakraborty, Pranesh; Geraghty, Michael T.; Irwin, Julie; Tessier, Laure; Nicholls, Stuart G.; Offringa, Martin; Butcher, Nancy J.; Iverson, Ryan; Clifford, Tammy J.; Stockler, Sylvia; Hutton, Brian; Paik, Karen; Tao, Jessica; Skidmore, Becky; Coyle, Doug; Duddy, Kathleen; Dyack, Sarah; Greenberg, Cheryl R.; Ghai, Shailly Jain; Karp, Natalya; Korngut, Lawrence; Kronick, Jonathan; MacKenzie, Alex; MacKenzie, Jennifer; Maranda, Bruno; Mitchell, John J.; Potter, Murray; Prasad, Chitra; Schulze, Andreas; Sparkes, Rebecca; Taljaard, Monica; Trakadis, Yannis; Walia, Jagdeep; Potter, Beth K. Share Save
Cohesin complex-associated holoprosencephaly Kruszka, Paul; Berger, Seth, I; Casa, Valentina; Dekker, Mike R.; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F.; Murdock, David R.; Louie, Raymond J.; Prijoles, Eloise J.; Lichty, Angie W.; Brouwer, Oebele F.; Zonneveld-Huijssoon, Evelien; Stephan, Mark J.; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L.; Prasad, Chitra; Cereda, Anna; Iascone, Maria; Schreiber, Allison; Zurcher, Vickie; Corsten-Janssen, Nicole; Escobar, Luis; Clegg, Nancy J.; Delgado, Mauricio R.; Hajirnis, Omkar; Balasubramanian, Meena; Kayserili, Hulya; Deardorff, Matthew; Poot, Raymond A.; Wendt, Kerstin S.; Lipinski, Robert J.; Muenke, Maximilian Share Save
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Aref-Eshghi, Erfan; Bend, Eric G.; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A.; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L.; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A.; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Krantz, Ian D.; Deardorff, Matthew A.; Schwartz, Charles E.; Sadikovic, Bekim Share Save
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada Karaceper, Maria D.; Khangura, Sara D.; Wilson, Kumanan; Coyle, Doug; Brownell, Marni; Davies, Christine; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B.; Grosse, Scott D.; Guttmann, Astrid; Hawken, Steven; Hayeems, Robin Z.; Kronick, Jonathan B.; Laberge, Anne-Marie; Little, Julian; Mhanni, Aizeddin; Mitchell, John J.; Nakhla, Meranda; Potter, Murray; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Stockler, Sylvia; Ueda, Keiko; Vallance, Hilary; Wilson, Brenda J.; Chakraborty, Pranesh; Potter, Beth K. Share Save
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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes Aref-Eshghi, Erfan; Bend, Eric G.; Hood, Rebecca L.; Schenkel, Laila C.; Carere, Deanna Alexis; Chakrabarti, Rana; Nagamani, Sandesh C. S.; Cheung, Sau Wai; Campeau, Philippe M.; Prasad, Chitra; Siu, Victoria Mok; Brady, Lauren; Tarnopolsky, Mark A.; Callen, David J.; Innes, A. Micheil; White, Susan M.; Meschino, Wendy S.; Shuen, Andrew Y.; Pare, Guillaume; Bulman, Dennis E.; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Hennekam, Raoul C.; Boycott, Kym M.; Schwartz, Charles E.; Sadikovic, Bekim Share Save
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