Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia
International Journal of Neonatal Screening
Sinclair, G. and McMahon, V. and Schellenberg, A. and Nelson, T.N. and Chilvers, M. and Vallance, H.
DOI: 10.3390/ijns6020046
2020

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations
Mitochondrion
Sharma, M.A. and Lee, J.Y.J. and Tam, A. and Sattha, B. and Mackenzie, I.R. and Vallance, H.D. and Sirrs, S. and Hannah-Shmouni, F. and Côté, H.C.F. and Mattman, A.
DOI: 10.1016/j.mito.2018.08.002
2019

Atypical cerebral palsy: genomics analysis enables precision medicine
Genetics 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 Drögemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stöckler, 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-y
2019

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: A cohort study in Ontario, Canada
Orphanet Journal of Rare Diseases
Karaceper, M.D. and Khangura, S.D. and Wilson, K. and Coyle, D. and Brownell, M. and Davies, C. and Dodds, L. and Feigenbaum, A. and Fell, D.B. and Grosse, S.D. and Guttmann, A. and Hawken, S. and Hayeems, R.Z. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Mhanni, A. and Mitchell, J.J. and Nakhla, M. and Potter, M. and Prasad, C. and Rockman-Greenberg, C. and Sparkes, R. and Stockler, S. and Ueda, K. and Vallance, H. and Wilson, B.J. and Chakraborty, P. and Potter, B.K.
DOI: 10.1186/s13023-019-1001-0
2019

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation
Paediatrics and Child Health (Canada)
Sinclair, G. and Collins, S. and Arbour, L. and Vallance, H.
DOI: 10.1093/pch/pxy106
2019

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy
Clinical 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-2018-1337
2019

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity
Journal 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/nxz178
2019

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
JCI insight
Wen, X.-Y. and Tarailo-Graovac, M. and Brand-Arzamendi, K. and Willems, A. and Rakic, B. and Huijben, K. and Da Silva, A. and Pan, X. and El-Rass, S. and Ng, R. and Selby, K. and Philip, A.M. and Yun, J. and Ye, X.C. and Ross, C.J. and Lehman, A.M. and Zijlstra, F. and Abu Bakar, N. and Drögemöller, B. and Moreland, J. and Wasserman, W.W. and Vallance, H. and van Scherpenzeel, M. and Karbassi, F. and Hoskings, M. and Engelke, U. and de Brouwer, A. and Wevers, R.A. and Pshezhetsky, A.V. and van Karnebeek, C.D. and Lefeber, D.J.
DOI: 10.1172/jci.insight.122373
2018

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral L-carnitine
Molecular Genetics and Metabolism Reports
Vallance, H.D. and Koochin, A. and Branov, J. and Rosen-Heath, A. and Bosdet, T. and Wang, Z. and Hazen, S.L. and Horvath, G.
DOI: 10.1016/j.ymgmr.2018.04.005
2018

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity
British 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/S0007114517002331
2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
Molecular Case Studies
DOI: 10.1101/mcs.a001156
10/2016

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
Journal of Inborn Errors of Metabolism and Screening
Graham B. Sinclair and Manuel Ester and Gabriella Horvath and Clara D. van Karnebeek and Sylvia Stockler-Ipsirogu and Hilary Vallance
DOI: 10.1177/2326409816666296
07/2016

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
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.2016.05.002
2016

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Brain
Zaharieva, I.T. and Thor, M.G. and Oates, E.C. and Van Karnebeek, C. and Hendson, G. and Blom, E. and Witting, N. and Rasmussen, M. and Gabbett, M.T. and Ravenscroft, G. and Sframeli, M. and Suetterlin, K. and Sarkozy, A. and D'Argenzio, L. and Hartley, L. and Matthews, E. and Pitt, M. and Vissing, J. and Ballegaard, M. and Krarup, C. and Sl?rdahl, A. and Halvorsen, H. and Ye, X.C. and Zhang, L.-H. and L?kken, N. and Werlauff, U. and Abdelsayed, M. and Davis, M.R. and Feng, L. and Phadke, R. and Sewry, C.A. and Morgan, J.E. and Laing, N.G. and Vallance, H. and Ruben, P. and Hanna, M.G. and Lewis, S. and Kamsteeg, E.-J. and Männikkö, R. and Muntoni, F.
DOI: 10.1093/brain/awv352
2016

Exome sequencing and the management of neurometabolic disorders
New 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 Drögemöller, 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/NEJMoa1515792
2016

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Molecular Genetics and Metabolism
Sass, J.O. and Gemperle-Britschgi, C. and Tarailo-Graovac, M. and Patel, N. and Walter, M. and Jordanova, A. and Alfadhel, M. and Bari?, I. and ?oker, M. and Damli-Huber, A. and Faqeih, E.A. and García Segarra, N. and Geraghty, M.T. and J?tun, B.M. and Kalkan U?ar, S. and Kriewitz, M. and Rauchenzauner, M. and Bili?, K. and Tournev, I. and Till, C. and Sayson, B. and Beumer, D. and Ye, C.X. and Zhang, L.-H. and Vallance, H. and Alkuraya, F.S. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2016.07.008
2016

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency
Clinical Biochemistry
Schroder, T.H. and Mattman, A. and Sinclair, G. and Vallance, H.D. and Lamers, Y.
DOI: 10.1016/j.clinbiochem.2016.03.007
2016

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement
European Journal of Human Genetics
Janer, A. and Van Karnebeek, C.D.M. and Sasarman, F. and Antonicka, H. and Al Ghamdi, M. and Shyr, C. and Dunbar, M. and Stockler-Ispiroglu, S. and Ross, C.J. and Vallance, H. and Dionne, J. and Wasserman, W.W. and Shoubridge, E.A.
DOI: 10.1038/ejhg.2014.293
2015

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
BMC Pediatrics
Khangura, S.D. and Karaceper, M.D. and Trakadis, Y. and Mitchell, J.J. and Chakraborty, P. and Tingley, K. and Coyle, D. and Grosse, S.D. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Prasad, C. and Sikora, L. and Siriwardena, K. and Sparkes, R. and Speechley, K.N. and Stockler, S. and Wilson, B.J. and Wilson, K. and Zayed, R. and Potter, B.K. and Austin, V. and Feigenbaum, A. and Nagy, L. and Brownwell, M. and Brunel, C. and Casey, R. and Chan, A. and Jain, S. and Chapman, M. and Dyack, S. and Gillis, J. and Dodds, L. and Fell, D. and Geraghty, M. and Langley, E. and Giezen, A. and Ueda, K. and Vallance, H. and Greenberg, C. and Guttmann, A. and Hayeems, R. and Miller, F. and Khan, A. and MacKenzie, J. and Maranda, B. and Mhanni, A. and Mitchell, G. and Nakhla, M. and Pender, A. and Potter, M. and Turner, L. and van Karnebeek, C.
DOI: 10.1186/s12887-015-0323-x
2015

Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?
Clinical Biochemistry
Hilary Vallance and Graham Sinclair and Ramona Salvarinova and Michelle Demos and Tim Wood and Pamela Lavoie and Christiane Auray-Blais
DOI: 10.1016/j.clinbiochem.2014.07.051
10/2014

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease
Clinical Biochemistry
Graham Sinclair and Clara van Karnebeek and Ramona Salvarinova and Gloria Ho and Keiko Ueda and Barbara Cheng and Alette Giezen and Sylvia Stockler and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2014.07.075
10/2014

Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation
Clinical Biochemistry
Bojana Rakic and Graham Sinclair and Ramona Salvarinova and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2014.07.063
10/2014

Prediction of obstetrical risk using maternal serum markers and clinical risk factors
Prenatal Diagnosis
Metcalfe, A. and Langlois, S. and Macfarlane, J. and Vallance, H. and Joseph, K.S.
DOI: 10.1002/pd.4281
2014

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid ß-oxidation disorders in adult patients with rhabdomyolysis
Journal 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/s10545-012-9578-7
2014

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency
Clinical Immunology
Grazioli, S. and Bennett, M. and Hildebrand, K.J. and Vallance, H. and Turvey, S.E. and Junker, A.K.
DOI: 10.1016/j.clim.2014.04.015
2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood
American 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.2014.01.006
2014

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
Orphanet Journal of Rare Diseases
Stockler, S. and Corvera, S. and Lambright, D. and Fogarty, K. and Nosova, E. and Leonard, D. and Steinfeld, R. and Ackerley, C. and Shyr, C. and Au, N. and Selby, K. and Van Allen, M. and Vallance, H. and Wevers, R. and Watkins, D. and Rosenblatt, D. and Ross, C.J. and Conibear, E. and Wasserman, W. and Van Karnebeek, C.
DOI: 10.1186/s13023-014-0141-5
2014

Three years experience with dried blood spot a-glucosidase screening for Pompe disease in British Columbia, Canada
BMC Musculoskeletal Disorders
Gabriella Horvath and Sandra Sirrs and Sylvia Stockler and Ramona Salvarinova-Zivkovic and Hilary Vallance and Paula Waters
DOI: 10.1186/1471-2474-14-s2-p2
2013

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
Molecular Genetics and Metabolism
Hartnett, C. and Salvarinova-Zivkovic, R. and Yap-Todos, E. and Cheng, B. and Giezen, A. and Horvath, G. and Lillquist, Y. and Vallance, H. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2013.01.007
2013

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia
Canadian Journal of Neurological Sciences
Pfeffer, G. and Waters, P.J. and Maguire, J. and Vallance, H.D. and Wong, V.A. and Mezei, M.M.
DOI: 10.1017/S0317167100014062
2012

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations
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.2011-2924
2012

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy
Gene
Al-Thihli, K. and Ebrahim, H. and Hughes, D.A. and Patel, M. and Tipple, M. and Salvarinova, R. and Gardiner, J. and Vallance, H. and Waters, P.J.
DOI: 10.1016/j.gene.2012.01.056
2012

Diagnosis and management of patients with mitochondrial disease
British 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.
2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Genetics 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-González, I. and Ingham, C.A. and Ivanova, M. and Jacox, W.B. and John, C. and Johnson, J.P. and Jónsson, 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 García-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 Döbeln, 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.0b013e31820d5e67
2011

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review
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.33881
2011

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
Molecular Genetics and Metabolism
Brunel-Guitton, C. and Casey, B. and Coulter-Mackie, M. and Vallance, H. and Hewes, D. and Stockler-Ipsiroglu, S. and Mercimek-Mahmutoglu, S.
DOI: 10.1016/j.ymgme.2011.02.009
2011

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
Science
Kranendijk, M. and Struys, E.A. and Van Schaftingen, E. and Gibson, K.M. and Kanhai, W.A. and Van Der Knaap, M.S. and Amiel, J. and Buist, N.R. and Das, A.M. and De Klerk, J.B. and Feigenbaum, A.S. and Grange, D.K. and Hofstede, F.C. and Holme, E. and Kirk, E.P. and Korman, S.H. and Morava, E. and Morris, A. and Smeitink, J. and Sukhai, R.N. and Vallance, H. and Jakobs, C. and Salomons, G.S.
DOI: 10.1126/science.1192632
2010

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut
Molecular 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.2010.07.013
2010

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
Molecular 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.2008.12.018
2009

Delays in diagnosing cystic fibrosis: Can we find ways to diagnose it earlier?
Canadian Family Physician
Steinraths, M. and Vallance, H.D. and Davidson, A.G.F.
2008

Newborn screening for MCAD deficiency: Experience of the first three years in British Columbia, Canada
Canadian Journal of Public Health
Horvath, G.A. and Davidson, A.G.F. and Stockler-Ipsiroglu, S.G. and Lillquist, Y.P. and Waters, P.J. and Olpin, S. and Andresen, B.S. and Palaty, J. and Nelson, J. and Vallance, H.
DOI: 10.1007/bf03403754
2008

Screening for fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test
Clinical Journal of the American Society of Nephrology
Andrade, J. and Waters, P.J. and Singh, R.S. and Levin, A. and Toh, B.-C. and Vallance, H.D. and Sirrs, S.
DOI: 10.2215/CJN.02490607
2008

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Canadian journal of public health = Revue canadienne de sante publique
Horvath GA and Davidson AG and Stockler-Ipsiroglu SG and Lillquist YP and Waters PJ and Olpin S and Andresen BS and Palaty J and Nelson J and Vallance H
PubMed: 18767270
2008

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation
Dimmock, D.P. and Zhang, Q. and Dionisi-Vici, C. and Carrozzo, R. and Shieh, J. and Tang, L.Y. and Truong, C. and Schmitt, E. and Sifry-Platt, M. and Lucioli, S. and Santorelli, F.M. and Ficicioglu, C.H. and Rodriguez, M. and Wierenga, K. and Enns, G.M. and Longo, N. and Lipson, M.H. and Vallance, H. and Craigen, W.J. and Scaglia, F. and Wong, L.J.
DOI: 10.1002/humu.9519
2008

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results
Clinical Biochemistry
Coulter-Mackie, M.B. and Lian, Q. and Applegarth, D.A. and Toone, J. and Waters, P.J. and Vallance, H.
DOI: 10.1016/j.clinbiochem.2008.01.018
2008

In response to 'Newborn screening in North America' (Therrell and Adams (2007) J Inherit Metab Dis 30:447-465)
Journal of Inherited Metabolic Disease
Vallance, H. and Sirrs, S. and Bamforth, F. and Stockler-Ipsiroglu, S.
DOI: 10.1007/s10545-008-0846-5
2008

Newborn screening by Tandem Mass Spectrometry: Ethical and social issues
Canadian Journal of Public Health
Avard, D. and Vallance, H. and Greenberg, C. and Potter, B.
DOI: 10.1007/bf03405404
2007

Newborn screening by tandem mass spectrometry: ethical and social issues.
Canadian journal of public health = Revue canadienne de sante publique
Avard D and Vallance H and Greenberg C and Potter B
PubMed: 17896737
2007

Variability in the storage and use of newborn dried bloodspots in Canada: is it time for national standards?
Genomics, society, and policy
Avard D and Vallance H and Greenberg C and Laberge C and Kharaboyan L and Plant M
12/2006

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy
Molecular Genetics and Metabolism
Leary, S.C. and Mattman, A. and Wai, T. and Koehn, D.C. and Clarke, L.A. and Chan, S. and Lomax, B. and Eydoux, P. and Vallance, H.D. and Shoubridge, E.A.
DOI: 10.1016/j.ymgme.2006.04.016
2006

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification
Molecular Genetics and Metabolism
Vallance, H. and Morris, T.J. and Coulter-Mackie, M. and Lim-Steele, J. and Kaback, M.
DOI: 10.1016/j.ymgme.2005.10.012
2006

The Brugada ECG pattern in a neonate
Journal of Cardiovascular Electrophysiology
Sanatani, S. and Mahkseed, N. and Vallance, H. and Brugada, R.
DOI: 10.1046/j.1540-8167.2005.40607.x
2005

Laboratory Testing of Infants and Children
Pediatrics
Lockitch, G. and Mock, T. and Thomas, E. and Vallance, H. and Wadsworth, L.
DOI: 10.1016/B978-0-323-01199-0.50276-0
2005

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?
Molecular Genetics and Metabolism
Waters, P.J. and Khashu, M. and Lillquist, Y. and Senger, C. and Mattman, A. and Demos, M. and Setchell, K. and Rupar, A. and Scott, P. and Blau, N. and Vallance, H.D.
DOI: 10.1016/j.ymgme.2005.07.032
2005

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
Annals of Neurology
Demos, M.K. and Waters, P.J. and Vallance, H.D. and Lillquist, Y. and Makhseed, N. and Hyland, K. and Blau, N. and Connolly, M.B.
DOI: 10.1002/ana.20532
2005

Expansion of the 22q13 deletion phenotype in four patients with autism spectrum disorder
Journal of Investigative Medicine
DOI: 10.1097/00042871-200401001-00125
01/2004

Biochemical approach to the investigation of pediatric mitochondrial disease
Pediatric and Developmental Pathology
Vallance, H.
DOI: 10.1007/s10024-004-5053-2
2004

Pseudo-lysosomal storage disease caused by EMLA cream
Journal of Inherited Metabolic Disease
Vallance, H. and Chaba, T. and Clarke, L. and Taylor, G.
DOI: 10.1023/B:BOLI.0000037352.98317.5a
2004

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy
Journal of Inherited Metabolic Disease
Makhseed, N. and Vallance, H.D. and Potter, M. and Waters, P.J. and Wong, L.T.K. and Lillquist, Y. and Pasquali, M. and Amat di San Filippo, C. and Longo, N.
DOI: 10.1023/B:BOLI.0000045837.23328.f4
2004

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation
Pediatric Cardiology
Vallance, H.D. and Jeven, G. and Wallace, D.C. and Brown, M.D.
DOI: 10.1007/s00246-003-0446-y
2004

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Nature Genetics
Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and Höhne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and Nürnberg, P.
DOI: 10.1038/ng1221
2003

Carrier testing for autosomal-recessive disorders
Critical Reviews in Clinical Laboratory Sciences
Vallance, H. and Ford, J.
DOI: 10.1080/10408360390247832
2003

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
Clinical Biochemistry
Tang, N.L.S. and Hui, J. and Yong, C.K.K. and Wong, L.T.K. and Applegarth, D.A. and Vallance, H.D. and Law, L.K. and Fung, S.L.M. and Mak, T.W.L. and Sung, Y.M. and Cheung, K.L. and Fok, T.F.
DOI: 10.1016/S0009-9120(02)00432-0
2003

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly
Journal of Pediatric Gastroenterology and Nutrition
Gillett, P.M. and Schreiber, R.A. and Jevon, G.P. and Israel, D.M. and Warshawski, T. and Vallance, H. and Clarke, L.A.
DOI: 10.1097/00005176-200108000-00025
2001

Novel point mutation (W184R) in neonatal type 2 Gaucher disease
Pediatric and Developmental Pathology
Choy, F.Y.M. and Wong, K. and Vallance, H.D. and Baldwin, V.
DOI: 10.1007/s100249910018
2000

Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Choy FY and Wong K and Vallance HD and Baldwin V
DOI: 10.1007/s100240050023
PubMed: 10679038
2000

The Liver Biopsy and the Jaundiced Infant
Pathology Case Reviews
Avrum J. Ostry and Hilary D. Vallance and James E. Dimmick and Garcth P. levon
DOI: 10.1097/00132583-199905000-00005
05/1999

Diagnosis of inborn errors of metabolism using ¹H NMR spectroscopic analysis of urine
Journal of Inherited Metabolic Disease
Bamforth, F.J. and Dorian, V. and Vallance, H. and Wishart, D.S.
DOI: 10.1023/A:1005531432766
1999

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Human mutation
Vallance, H.D. and Bernard, L. and Rashed, M. and Chiu, D. and Le, G. and Toone, J. and Applegarth, D.A. and Coulter-Mackie, M.
DOI: 10.1002/(SICI)1098-1004(1999)13:43.0.CO;2-3
1999

D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Annals of Neurology
Van Der Knaap, M.S. and Jakobs, C. and Hoffmann, G.F. and Nyhan, W.L. and Renier, W.O. and Smeitink, J.A.M. and Catsman-Berrevoets, C.E. and Hjalmarson, O. and Vallance, H. and Sugita, K. and Bowe, C.M. and Herrin, J.T. and Craigen, W.J. and Buist, N.R.M. and Brookfield, D.S.K. and Chalmers, R.A.
DOI: 10.1002/1531-8249(199901)45:13.0.CO;2-N
1999

Early amniocentesis for biochemical genetic prenatal diagnosis [2]
Lancet
Toone, J.R. and Applegarth, D.A. and Vallance, H.D. and Wilson, R.D.
DOI: 10.1016/S0140-6736(05)79157-1
1998

DNA-based diagnosis of arylsulfatase a deficiencies as a supplement to enzyme assay: A case in point
Clinical Biochemistry
Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J. and Vallance, H.
DOI: 10.1016/S0009-9120(96)00124-5
1997

Are patients with homocystinuria being missed?
European Journal of Pediatrics
Applegarth, D.A. and Vallance, H.D. and Seccombe, D.
DOI: 10.1007/BF02074844
1995

An improved method for quantification of very long chain fatty acids in plasma
Clinical Biochemistry
Vallance, H. and Derek, A.
DOI: 10.1016/0009-9120(94)90053-1
1994

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes
Journal of Inherited Metabolic Disease
Vallance, H.D. and Toone, J.R. and Applegarth, D.A.
DOI: 10.1007/BF00711604
1994

Oral zinc therapy in the treatment of a-mannosidosis
American Journal of Medical Genetics
Wong, L.T.K. and Vallance, H. and Savage, A. and Davidson, A.G.F. and Applegarth, D.
DOI: 10.1002/ajmg.1320460413
1993

Rapid, semi-quantitative assay of C-reactive protein evaluated
Clinical Chemistry
Vallance, H. and Lockitch, G.
DOI: 10.1093/clinchem/37.11.1981
1991