JOURNAL OF THE ENDOCRINE SOCIETY
DOI: 10.1210/JENDSO/BVAF157NPJ GENOMIC MEDICINE
DOI: 10.1038/S41525-025-00523-2PEDIATRIC NEPHROLOGY
DOI: 10.1007/S00467-021-05324-0MICROBIOLOGY SPECTRUM
DOI: 10.1128/SPECTRUM.03376-22MICROBIOLOGY SPECTRUM
DOI: 10.1128/SPECTRUM.01405-21CLINICAL BIOCHEMISTRY
DOI: 10.1016/J.CLINBIOCHEM.2022.04.016Paediatrics & Child Health
Hilary Vallance and Graham Sinclair and Bojana Rakic and Sylvia Stockler-Ipsiroglu
DOI: 10.1093/pch/pxaa11209 / 2021
BRITISH JOURNAL OF NUTRITION
DOI: 10.1017/S0007114521000581JOURNAL OF MASS SPECTROMETRY AND ADVANCES IN THE CLINICAL LAB
DOI: 10.1016/J.JMSACL.2021.03.001Pediatric nephrology (Berlin, Germany)
Golan O and Dyer R and Sinclair G and Blydt-Hansen T
DOI: 10.1007/s00467-020-04797-9 PubMed: 3306767310 / 2020
International Journal of Neonatal Screening
DOI: 10.3390/ijns602004606 / 2020
Journal of medical genetics
Alexandra Roston and Evans D and Gill H and McKinnon M and Isidor B and Benjamin Cogn and Mwenifumbo J and van Karnebeek C and An J and Steven Jones and Farrer M and Demos M and Mary B. Connolly and William Gibson and CAUSES Study and EPGEN Study
DOI: 10.1136/jmedgenet-2019-106756 PubMed: 3254656606 / 2020
International Journal of Neonatal Screening
DOI: 10.3390/ijns602004505 / 2020
Current developments in nutrition
St-Cyr C and Lamers Y and Casey L and Saunders M and Sinclair G and Mattman A
05 / 2020
The Journal of Pediatrics
Danya A. Fox and Rebecca Ronsley and Asif R. Khowaja and Alon Haim and Hilary Vallance and Graham Sinclair and Shazhan Amed
DOI: 10.1016/j.jpeds.2019.12.05705 / 2020
Pediatric Transplantation
Elias, I.M. and Sinclair, G. and Blydt-Hansen, T.D.
DOI: 10.1111/petr.13493Journal of Nutrition
Mujica-Coopman, M.F. and Tan, A. and Schroder, T.H. and Sinclair, G. and Vallance, H.D. and Lamers, Y.
DOI: 10.1093/jn/nxz178Genetics in Medicine
Matthews, A.M. and Blydt-Hansen, I. and Al-Jabri, B. and Andersen, J. and Tarailo-Graovac, M. and Price, M. and Selby, K. and Demos, M. and Connolly, M. and Drgemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stckler, S. and Salvarinova, R. and Vallance, H. and Sinclair, G. and Ross, C.J. and Wasserman, W.W. and McKinnon, M.L. and Horvath, G.A. and Goez, H. and van Karnebeek, C.D.
DOI: 10.1038/s41436-018-0376-yPaediatrics and Child Health (Canada)
Sinclair, G. and Collins, S. and Arbour, L. and Vallance, H.
DOI: 10.1093/pch/pxy106Clinical Chemistry and Laboratory Medicine
Schroder, T.H. and Tan, A. and Mattman, A. and Sinclair, G. and Barr, S.I. and Vallance, H.D. and Lamers, Y.
DOI: 10.1515/cclm-2018-1337PEDIATRIC TRANSPLANTATION
Neuropediatrics
Almomen, M. and Sinclair, G. and Stockler-Ipsiroglu, S.G. and Horvath, G.A.
DOI: 10.1055/s-0038-1667171Cold Spring Harbor molecular case studies
Bourne SC and Townsend KN and Shyr C and Matthews A and Lear SA and Attariwala R and Lehman A and Wasserman WW and van Karnebeek C and Sinclair G and Vallance H and Gibson WT
DOI: 10.1101/mcs.a001156 PubMed: 2805059901 / 2017
American Journal of Medical Genetics, Part A
Armstrong, L. and Tarailo-Graovac, M. and Sinclair, G. and Seath, K.I. and Wasserman, W.W. and Ross, C.J. and van Karnebeek, C.D.M.
DOI: 10.1002/ajmg.a.37621British Journal of Nutrition
Schroder, T.H. and Sinclair, G. and Mattman, A. and Jung, B. and Barr, S.I. and Vallance, H.D. and Lamers, Y.
DOI: 10.1017/S0007114517002331American Journal of Human Genetics
Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.
DOI: 10.1016/j.ajhg.2017.05.016American Journal of Human Genetics
Guella, I. and McKenzie, M.B. and Evans, D.M. and Buerki, S.E. and Toyota, E.B. and Van Allen, M.I. and Adam, S. and Boelman, C. and Bolbocean, C. and Candido, T. and Eydoux, P. and Horvath, G. and Huh, L. and Nelson, T.N. and Sinclair, G. and van Karnebeek, C. and Vercauteren, S. and Suri, M. and Elmslie, F. and Simon, M.E.H. and van Gassen, K.L.I. and Hron, D. and Keren, B. and Nava, C. and Connolly, M.B. and Demos, M. and Farrer, M.J.
DOI: 10.1016/j.ajhg.2017.07.004Journal of Inborn Errors of Metabolism and Screening
DOI: 10.1177/232640981666629607 / 2016
Molecular Genetics and Metabolism
Sinclair, G.B. and van Karnebeek, C.D.M. and Ester, M. and Boyd, F. and Nelson, T. and Stockler-Ipsiroglu, S. and Vallance, H.
DOI: 10.1016/j.ymgme.2016.05.002INTERNATIONAL JOURNAL OF CIRCUMPOLAR HEALTH
INTERNATIONAL JOURNAL OF CIRCUMPOLAR HEALTH
Clinical Biochemistry
Schroder, T.H. and Mattman, A. and Sinclair, G. and Vallance, H.D. and Lamers, Y.
DOI: 10.1016/j.clinbiochem.2016.03.007New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drgemller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792Molecular Genetics and Metabolism
van Karnebeek, C.D.M. and Mohammadi, T. and Tsao, N. and Sinclair, G. and Sirrs, S. and Stockler, S. and Marra, C.
DOI: 10.1016/j.ymgme.2014.07.004Orphanet Journal of Rare Diseases
Tarailo-Graovac, M. and Sinclair, G. and Stockler-Ipsiroglu, S. and Van Allen, M. and Rozmus, J. and Shyr, C. and Biancheri, R. and Oh, T. and Sayson, B. and Lafek, M. and Ross, C.J. and Robinson, W.P. and Wasserman, W.W. and Rossi, A. and Van Karnebeek, C.D.M.
DOI: 10.1186/s13023-015-0243-8Orphanet Journal of Rare Diseases
Sirrs, S. and Van Karnebeek, C.D.M. and Peng, X. and Shyr, C. and Tarailo-Graovac, M. and Mandal, R. and Testa, D. and Dubin, D. and Carbonetti, G. and Glynn, S.E. and Sayson, B. and Robinson, W.P. and Han, B. and Wishart, D. and Ross, C.J. and Wasserman, W.W. and Hurwitz, T.A. and Sinclair, G. and Kaczocha, M.
DOI: 10.1186/s13023-015-0248-3MOLECULAR GENETICS AND METABOLISM
MOLECULAR GENETICS AND METABOLISM
CLINICAL BIOCHEMISTRY
DOI: 10.1016/J.CLINBIOCHEM.2014.07.051Neurogenetics
Armstrong, L. and Biancheri, R. and Shyr, C. and Rossi, A. and Sinclair, G. and Ross, C.J. and Tarailo-Graovac, M. and Wasserman, W.W. and Van Karnebeek, C.D.M.
DOI: 10.1007/s10048-014-0411-3CLINICAL BIOCHEMISTRY
DOI: 10.1016/J.CLINBIOCHEM.2014.07.075CLINICAL BIOCHEMISTRY
DOI: 10.1016/J.CLINBIOCHEM.2014.07.063American Journal of Human Genetics
Van Karnebeek, C.D. and Sly, W.S. and Ross, C.J. and Salvarinova, R. and Yaplito-Lee, J. and Santra, S. and Shyr, C. and Horvath, G.A. and Eydoux, P. and Lehman, A.M. and Bernard, V. and Newlove, T. and Ukpeh, H. and Chakrapani, A. and Preece, M.A. and Ball, S. and Pitt, J. and Vallance, H.D. and Coulter-Mackie, M. and Nguyen, H. and Zhang, L.-H. and Bhavsar, A.P. and Sinclair, G. and Waheed, A. and Wasserman, W.W. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ajhg.2014.01.006Journal of Inherited Metabolic Disease
Al-Thihli, K. and Sinclair, G. and Sirrs, S. and Mezei, M. and Nelson, J. and Vallance, H.
DOI: 10.1007/s10545-012-9578-7Molecular Genetics and Metabolism
Yu, H. and van Karnebeek, C. and Sinclair, G. and Hill, A. and Cui, H. and Zhang, V.W. and Wong, L.-J.
DOI: 10.1016/j.ymgme.2013.09.018Clinical Biochemistry
Wong, S. and Hannah-Shmouni, F. and Sinclair, G. and Sirrs, S. and Dahl, M. and Mattman, A.
DOI: 10.1016/j.clinbiochem.2012.10.006MOLECULAR GENETICS AND METABOLISM
MOLECULAR GENETICS AND METABOLISM
Pediatrics
Sinclair, G.B. and Collins, S. and Popescu, O. and McFadden Md, D. and Arbour, L. and Vallance, H.D.
DOI: 10.1542/peds.2011-2924Genetics in Medicine
Marquardt, G. and Currier, R. and McHugh, D.M.S. and Gavrilov, D. and Magera, M.J. and Matern, D. and Oglesbee, D. and Raymond, K. and Rinaldo, P. and Smith, E.H. and Tortorelli, S. and Turgeon, C.T. and Lorey, F. and Wilcken, B. and Wiley, V. and Greed, L.C. and Lewis, B. and Boemer, F. and Schoos, R. and Marie, S. and Vincent, M.-F. and Sica, Y.C. and Domingos, M.T. and Al-Thihli, K. and Sinclair, G. and Al-Dirbashi, O.Y. and Chakraborty, P. and Dymerski, M. and Porter, C. and Manning, A. and Seashore, M.R. and Quesada, J. and Reuben, A. and Chrastina, P. and Hornik, P. and Atef Mandour, I. and Atty Sharaf, S.A. and Bodamer, O. and Dy, B. and Torres, J. and Zori, R. and Cheillan, D. and Vianey-Saban, C. and Ludvigson, D. and Stembridge, A. and Bonham, J. and Downing, M. and Dotsikas, Y. and Loukas, Y.L. and Papakonstantinou, V. and Zacharioudakis, G.S.A. and Barth, K. and Karg, E. and Franzson, L. and Jonsson, J.J. and Breen, N.N. and Lesko, B.G. and Berberich, S.L. and Turner, K. and Ruoppolo, M. and Scolamiero, E. and Antonozzi, I. and Carducci, C. and Caruso, U. and Cassanello, M. and La Marca, G. and Pasquini, E. and Di Gangi, I.M. and Giordano, G. and Camilot, M. and Teofoli, F. and Manos, S.M. and Peterson, C.K. and Mayfield Gibson, S.K. and Sevier, D.W. and Lee, S.-Y. and Park, H.-D. and Khneisser, I. and Browning, P. and Gulamali-Majid, F. and Watson, M.S. and Eaton, R.B. and Sahai, I. and Ruiz, C. and Torres, R. and Seeterlin, M.A. and Stanley, E.L. and Hietala, A. and McCann, M. and Campbell, C. and Hopkins, P.V. and De Sain-Van Der Velden, M.G. and Elvers, B. and Morrissey, M.A. and Sunny, S. and Knoll, D. and Webster, D. and Frazier, D.M. and McClure, J.D. and Sesser, D.E. and Willis, S.A. and Rocha, H. and Vilarinho, L. and John, C. and Lim, J. and Caldwell, S.G. and Tomashitis, K. and Cast?eiras Ramos, D.E. and Cocho De Juan, J.A. and Rueda Fernndez, I. and Yahyaoui Mac?as, R. and Egea-Mellado, J.M. and Gonzlez-Gallego, I. and Delgado Pecellin, C. and Garca-Valdecasas Bermejo, M.S. and Chien, Y.-H. and Hwu, W.-L. and Childs, T. and McKeever, C.D. and Tanyalcin, T. and Abdulrahman, M. and Queijo, C. and Lemes, A. and Davis, T. and Hoffman, W. and Mei, B. and Hoffman, G.L.
DOI: 10.1038/gim.2012.2Molecular Genetics and Metabolism
Mercimek-Mahmutoglu, S. and Sinclair, G. and van Dooren, S.J.M. and Kanhai, W. and Ashcraft, P. and Michel, O.J. and Nelson, J. and Betsalel, O.T. and Sweetman, L. and Jakobs, C. and Salomons, G.S.
DOI: 10.1016/j.ymgme.2012.07.022Molecular Genetics and Metabolism
Salvarinova-Zivkovic, R. and Hartnett, C. and Sinclair, G. and Dix, D. and Horvath, G. and Lillquist, Y. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2012.01.007Molecular Genetics and Metabolism
van Karnebeek, C.D.M. and Hartmann, H. and Jaggumantri, S. and Bok, L.A. and Cheng, B. and Connolly, M. and Coughlin, C.R. and Das, A.M. and Gospe, S.M. and Jakobs, C. and van der Lee, J.H. and Mercimek-Mahmutoglu, S. and Meyer, U. and Struys, E. and Sinclair, G. and Van Hove, J. and Collet, J.-P. and Plecko, B.R. and Stockler, S.
DOI: 10.1016/j.ymgme.2012.09.006Molecular Genetics and Metabolism
Mercimek-Mahmutoglu, S. and Dunbar, M. and Friesen, A. and Garret, S. and Hartnett, C. and Huh, L. and Sinclair, G. and Stockler, S. and Wellington, S. and Pouwels, P.J.W. and Salomons, G.S. and Jakobs, C.
DOI: 10.1016/j.ymgme.2011.09.037British Columbia Medical Journal
Mattman, A. and O'Riley, M. and Waters, P.J. and Sinclair, G. and Mezei, M.M. and Clark, L. and Hendson, G. and Vallance, H. and Sirrs, S.
JOURNAL OF INHERITED METABOLIC DISEASE
Molecular Genetics and Metabolism
Schutz, P.W. and Struys, E.A. and Sinclair, G. and Stockler, S.
DOI: 10.1016/j.ymgme.2011.02.015Genetics in Medicine
McHugh, D.M.S. and Cameron, C.A. and Abdenur, J.E. and Abdulrahman, M. and Adair, O. and Al Nuaimi, S.A. and ?hlman, H. and Allen, J.J. and Antonozzi, I. and Archer, S. and Au, S. and Auray-Blais, C. and Baker, M. and Bamforth, F. and Beckmann, K. and Pino, G.B. and Berberich, S.L. and Binard, R. and Boemer, F. and Bonham, J. and Breen, N.N. and Bryant, S.C. and Caggana, M. and Caldwell, S.G. and Camilot, M. and Campbell, C. and Carducci, C. and Cariappa, R. and Carlisle, C. and Caruso, U. and Cassanello, M. and Castilla, A.M. and Ramos, D.E.C. and Chakraborty, P. and Chandrasekar, R. and Ramos, A.C. and Cheillan, D. and Chien, Y.-H. and Childs, T.A. and Chrastina, P. and Sica, Y.C. and Cocho De Juan, J.A. and Colandre, M.E. and Espinoza, V.C. and Corso, G. and Currier, R. and Cyr, D. and Czuczy, N. and D'Apolito, O. and Davis, T. and De Sain-Van Der Velden, M.G. and Pecellin, C.D. and Di Gangi, I.M. and Di Stefano, C.M. and Dotsikas, Y. and Downing, M. and Downs, S.M. and Dy, B. and Dymerski, M. and Rueda, I. and Elvers, B. and Eaton, R. and Eckerd, B.M. and El Mougy, F. and Eroh, S. and Espada, M. and Evans, C. and Fawbush, S. and Fijolek, K.F. and Fisher, L. and Franzson, L. and Frazier, D.M. and Garcia, L.R.C. and Bermejo, M.S.G.-V. and Gavrilov, D. and Gerace, R. and Giordano, G. and Irazabal, Y.G. and Greed, L.C. and Grier, R. and Grycki, E. and Gu, X. and Gulamali-Majid, F. and Hagar, A.F. and Han, L. and Hannon, W.H. and Haslip, C. and Hassan, F.A. and He, M. and Hietala, A. and Himstedt, L. and Hoffman, G.L. and Hoffman, W. and Hoggatt, P. and Hopkins, P.V. and Hougaard, D.M. and Hughes, K. and Hunt, P.R. and Hwu, W.-L. and Hynes, J. and Ibarra-Gonzlez, I. and Ingham, C.A. and Ivanova, M. and Jacox, W.B. and John, C. and Johnson, J.P. and Jnsson, J.J. and Karg, E. and Kasper, D. and Klopper, B. and Katakouzinos, D. and Khneisser, I. and Knoll, D. and Kobayashi, H. and Koneski, R. and Ko?ich, V. and Kouapei, R. and Kohlmueller, D. and Kremensky, I. and La Marca, G. and Lavochkin, M. and Lee, S.-Y. and Lehotay, D.C. and Lemes, A. and Lepage, J. and Lesko, B. and Lewis, B. and Lim, C. and Linard, S. and Lindner, M. and Lloyd-Puryear, M.A. and Lorey, F. and Loukas, Y.L. and Luedtke, J. and Maffitt, N. and Magee, J.F. and Manning, A. and Manos, S. and Marie, S. and Hadachi, S.M. and Marquardt, G. and Martin, S.J. and Matern, D. and Gibson, S.K.M. and Mayne, P. and McCallister, T.D. and McCann, M. and McClure, J. and McGill, J.J. and McKeever, C.D. and McNeilly, B. and Morrissey, M.A. and Moutsatsou, P. and Mulcahy, E.A. and Nikoloudis, D. and Norgaard-Pedersen, B. and Oglesbee, D. and Oltarzewski, M. and Ombrone, D. and Ojodu, J. and Papakonstantinou, V. and Reoyo, S.P. and Park, H.-D. and Pasquali, M. and Pasquini, E. and Patel, P. and Pass, K.A. and Peterson, C. and Pettersen, R.D. and Pitt, J.J. and Poh, S. and Pollak, A. and Porter, C. and Poston, P.A. and Price, R.W. and Queijo, C. and Quesada, J. and Randell, E. and Ranieri, E. and Raymond, K. and Reddic, J.E. and Reuben, A. and Ricciardi, C. and Rinaldo, P. and Rivera, J.D. and Roberts, A. and Rocha, H. and Roche, G. and Greenberg, C.R. and Mellado, J.M.E. and Juan-Fita, M.J. and Ruiz, C. and Ruoppolo, M. and Rutledge, S.L. and Ryu, E. and Saban, C. and Sahai, I. and Garca-Blanco, M.I.S. and Santiago-Borrero, P. and Schenone, A. and Schoos, R. and Schweitzer, B. and Scott, P. and Seashore, M.R. and Seeterlin, M.A. and Sesser, D.E. and Sevier, D.W. and Shone, S.M. and Sinclair, G. and Skrinska, V.A. and Stanley, E.L. and Strovel, E.T. and Jones, A.L.S. and Sunny, S. and Takats, Z. and Tanyalcin, T. and Teofoli, F. and Thompson, J.R. and Tomashitis, K. and Domingos, M.T. and Torres, J. and Torres, R. and Tortorelli, S. and Turi, S. and Turner, K. and Tzanakos, N. and Valiente, A.G. and Vallance, H. and Vela-Amieva, M. and Vilarinho, L. and Von Dbeln, U. and Vincent, M.-F. and Vorster, B.C. and Watson, M.S. and Webster, D. and Weiss, S. and Wilcken, B. and Wiley, V. and Williams, S.K. and Willis, S.A. and Woontner, M. and Wright, K. and Yahyaoui, R. and Yamaguchi, S. and Yssel, M. and Zakowicz, W.M.
DOI: 10.1097/GIM.0b013e31820d5e67MOLECULAR GENETICS AND METABOLISM
Biochemistry and Cell Biology
Zay, A. and Choy, F.Y.M. and Patrick, C. and Sinclair, G.
DOI: 10.1139/o10-156JOURNAL OF INHERITED METABOLIC DISEASE
American Journal of Medical Genetics, Part A
Alfadhel, M. and Lillquist, Y.P. and Waters, P.J. and Sinclair, G. and Struys, E. and Mcfadden, D. and Hendson, G. and Hyams, L. and Shoffner, J. and Vallance, H.D.
DOI: 10.1002/ajmg.a.33881CMAJ
Li, M. and Al-Sarraf, A. and Sinclair, G. and Frohlich, J.
DOI: 10.1503/cmaj.100642Molecular Genetics and Metabolism
Collins, S.A. and Sinclair, G. and McIntosh, S. and Bamforth, F. and Thompson, R. and Sobol, I. and Osborne, G. and Corriveau, A. and Santos, M. and Hanley, B. and Greenberg, C.R. and Vallance, H. and Arbour, L.
DOI: 10.1016/j.ymgme.2010.07.013Molecular Genetics and Metabolism
Mercimek-Mahmutoglu, S. and Connolly, M.B. and Poskitt, K.J. and Horvath, G.A. and Lowry, N. and Salomons, G.S. and Casey, B. and Sinclair, G. and Davis, C. and Jakobs, C. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2010.08.016Molecular Genetics and Metabolism
Greenberg, C.R. and Dilling, L.A. and Thompson, G.R. and Seargeant, L.E. and Haworth, J.C. and Phillips, S. and Chan, A. and Vallance, H.D. and Waters, P.J. and Sinclair, G. and Lillquist, Y. and Wanders, R.J.A. and Olpin, S.E.
DOI: 10.1016/j.ymgme.2008.12.018Molecular Genetics and Metabolism
Randall, D.R. and Colobong, K.E. and Hemmelgarn, H. and Sinclair, G.B. and Hetty, E. and Thomas, A. and Bodamer, O.A. and Volkmar, B. and Fernhoff, P.M. and Casey, R. and Chan, A.K. and Mitchell, G. and Stockler, S. and Melancon, S. and Rupar, T. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2008.05.001MOLECULAR GENETICS AND METABOLISM
DOI: 10.1016/J.YMGME.2007.08.009Molecular Genetics and Metabolism
Sinclair, G.B. and Jevon, G. and Colobong, K.E. and Randall, D.R. and Choy, F.Y.M. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2006.09.008Biochemistry and Cell Biology
Sinclair, G. and Pfeifer, T.A. and Grigliatti, T.A. and Choy, F.Y.M.
DOI: 10.1139/o05-165Molecular Genetics and Metabolism
Randall, D.R. and Sinclair, G.B. and Colobong, K.E. and Hetty, E. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2006.01.005Protein Expression and Purification
Sinclair, G. and Choy, F.Y.M.
DOI: 10.1016/S1046-5928(02)00526-0Molecular Genetics and Metabolism
Sinclair, G. and Choy, F.Y.M. and Ferreira, P.
DOI: 10.1006/mgme.2001.3215Blood Cells, Molecules, and Diseases
Sinclair, G. and Choy, F.Y.M. and Humphries, L.
DOI: 10.1006/bcmd.1998.0210The performance of newborn screening programs can be defined by the positive predictive value (PPV) of the screening tests, a major component of which is the false positive rate. Traditional approaches to screening for some disorders have an unacceptable false positive rate, but attempts to minimize this rate by raising screening cutoffs can lead to increased false negative rates and the associated devastating outcomes of a missed case. We have developed a number of second-tier screening tests, sampled from the same original newborn screening bloodspot, as an approach to reduce false positive rates without negatively affecting the sensitivity of testing. Our work involves the development of a number of mass spectrometry-based testing approaches and evaluation of the performance impacts of these tests in routine use. To date, we have implemented second-tier testing for congenital adrenal hyperplasia (CAH) and Maple Syrup Urine Disease (MSUD) and have methods in development for Propionic Acidemia (PA), Methylmalonic Acidemia (MMA), and Homocystinuria (HCY).
Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited disorder of creatine biosynthesis that leads to severe neurological complications in affected children. Treatment with supplemental creatine and other dietary restrictions has been shown to be effective when initiated early. This makes GAMT deficiency a potential candidate for newborn screening. We are investigating the carrier frequency for GAMT deficiency in BC to determine a theoretical disease incidence and evaluating the measurement of guanidinoacetate (GAA) in bloodspots as a potential approach to population-wide newborn screening for this treatable disorder.
The carnitine palmitoyltransferase 1A (CPT1a) p.P479L variant has recently been found to be common in coastal First Nations communities in BC and also in aboriginal populations in Alaska, NWT, Nunavut, and Greenland. CPT1a is a central enzyme in fatty acid oxidation and is required for import of fatty acids into the mitochondrion to be utilized as an energy source. This variant (p.P479L) was first identified in individuals with symptoms suggestive of a fatty acid oxidation disorder and has been shown to decrease CPT1a activity in vitro. We have performed a population based retrospective study in BC to confirm that the variant is common to coastal communities and is associated with a small increased risk in sudden unexpected death in infancy. Similar results have been found in Nunavut and Alaska. There is evidence, however, that this variant is also associated with improved plasma lipid profiles and obesity markers in adults suggesting a selective advantage, possibly related to alterations in the regulation of enzyme activity. We are continuing to investigate both the potential harms and benefits of this variant through prospective studies with community participants and basic biochemical investigations using in vitro methods to better understand the biochemical and clinical implications of this common variant.
BC Children's Hospital Telethon Competition; Determination of the incidence and natural history of carnitine palmitoyltransferase I deficiency in BC First Nations; COMP; $22,000CDN; Principal Investigator
Hilary Vallance; Coinvestigators
Graham Sinclair, Laura Arbour.
BC Children's Hospital Telethon Competition
Development of methods for screening X-linked creatine transporter deficiency (X-CRTRD) in mental retardation.; COMP; $9,910 CDN; Principal Investigator
Sylvia Stockler; Coinvestigators
Hilary Vallance, Graham Sinclair.
2004 Garrod Association Biochemical Genetics Fellowship; $25,000CDN
2004 Bluma Tischler Postdoctoral Fellowship; $22,500CDN
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BC Children's Hospital Research Institute operates on the ancestral and unceded territory of the Coast Salish peoples — xʷməθkʷəy̓əm (Musqueam), Sḵwx̱wú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations. Further, this acknowledgement, gratitude, and respect extends to all of the First Nations communities on whose territories the Research Institute builds relationships and operates in British Columbia.
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