McGill.CA / Rosenblatt Laboratory

Publications

Publications (last 10 years)

Rosenblatt, DS Publications

2013

  1. Mah W, Deme JC, Watkins D, Fung S, Janer A, Rosenblatt DS, Shoubridge EA, and Coulton JW. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B12 metabolism. Mol. Genet. Metab. 108:112-118, 2013
  2. Prasad C, Cairney AE, Rosenblatt DS, and Rupar CA. Transcobalamin (TC) deficiency and newborn screening. J Inher Metab Dis 35:727, 2012
  3. Watkins D, Rosenblatt DS. Lessons in biology from patients with inborn errors of vitamin B12 metabolism. Biochimie 95:1019-1022, 2013
  4. Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AGC, Baluarte JJ, Watkins D, Rosenblatt DS, Orange JS. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics 131:e629-e634, 2013.
  5. Rosenblatt DS. Who’s on first in exome and whole genome sequencing? Is it the patient or the incidental findings? Mol Genet Metab 110:1-2, 2013
  6. Illson ML, Dempsey-Nunez L, Kent J, Huang Q, Brebner A, Raff M, Watkins D, Gilfix BM, Wittwer CT, and Rosenblatt DS. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. Mol. Genet. Metab. 110:86-89, 2013
  7. Yu HC, Sloan JL, Scharer G, Brebner A, Quintana A, Achilly NP, Manoli I, Coughlin CR, Geiger EA, Schneck U, Watkins D, Van Hove JLK, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP and Shaikh TH. An X-linked cobalamin disorder caused by mutations in the transcription coregulator HCFC1. Am J Hum Genet 93:506-514, 2013
  8. Moreno-Garcia MA, Rosenblatt DS, Jerome-Majewska LA. Vitamin B12 metabolism in man and in embryonic mouse models. Nutrients 5:3531-3550, 2013
  9. Prasad C, Melançon SB, Rupar CA, Prasad AN, Dempsey-Nunez L, Rosenblatt DS and Majewski J. Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure in three siblings. Mol. Genet. Metab. 108:190-194, 2013.
  10. Gupta IR, Baldwin C, Auguste D, Ha KC, Andalousi EI, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. ARHGDIA: a novel gene implicated in nephritic syndrome. J Med Genet 50:330-338, 2013
  11. Rosenblatt DS. Book Review: Victor McKusick and the History of Medical Genetics. J Med Genet 50:640, 2013
  12. Paul E, Guttenberg M, Kaplan P, Watkins D, Rosenblatt DS, Kaplan BS. Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism. Pediatr. Nephrol. 28:1135-1139, 2013
  13. Armour C, Brebner A, Watkins D, Geraghty MT, Chan A, Rosenblatt DS. A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening. Pediatrics 132:e257-e261, 2013
  14. Fofou-Caillierez MB, Mrabet N, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL. Interaction between methionine synthase isoforms and MMACHC: characterization of cblG-variant, cblG and cblC inherited causes of megaloblastic anemia. Hum Mol Genet 22:4591-4601, 2013

 

2014

  1. Zawati MH, Parry D, Thorogood A, Nguyen MT, Boycott,KM, Rosenblatt D, Knoppers BM. Reporting results from whole-genome and exome sequencing in clinical practice: a proposal for Canada? J Med Genetics 51:68-70, 2014
  2. Trakadis YJ, Alfares A, Bodamer O, Boyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Haim B, Echenne B, Manoli I, Mitchell J, Nordvall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti C, Zafeiriou D, Rupar T, Rosenblatt DS, Watkins D, Braverman N. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inher Metab Dis 37:461-473, 2014
  3. Battat R, Kopylov U, Szilagyi A, Saxena A, Rosenblatt DS, Warner M, Bessissaw T, Seidman E, Bitton A. Vitamin B12 deficiency in inflammatory bowel disease: the prevalence, risk factors, evaluation and management. Inflammatory Bowel Diseases 20:1120-1128, 2014
  4. Moreno-Garcia MA, Pupavac M, Rosenblatt DS, Tramblay ML, Jerome-Majewska LA. The Mmachc gene is required for pre-implantation in the mouse. Mol Genet Metab 112:198-204, 2014
  5. Lossos A, Teltsh O, Milman T, Meiner V, Rozen R, Leclerc D, Rosenblatt DS, Watkins D, Shaag A, Korman S, Heyman,SN, Gal A, Newman JP, Steiner-Birmanns B, Abramsky O, Kohn Y. Severe MTHFR deficiency: clinical clues to a potentially treatable cause of adult-onset spastic paraplegia. JAMA Neurology 71:901-904, 2014
  6. D’Aco KE, Bearden D, Watkins D, Hyland K, Rosenblatt DS, Ficicioglu C. Severe methylenetetrahydrofolate reductase deficiency and 2 novel MTHFR variants in an adolescent with progressive myoclonic epilepsy. Pediatr Neurol 51:266-277, 2014.
  7. Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, Steinfeld R, Ackerly C, Shyr C, Au N, Selby K, van Allen M, Vallance H, Wevers R, Watkins D, Rosenblatt D, Ross CJ, Conibear E, Wasserman W, van Kanebeek C. Single point mutation in rabenosyn-5 in a female with intractable seizures and evidence of defective endocytic trafficking. Orphanet J Rare Dis 9:141, 2014
  8. Fischer S, Huemer M, Deodato F, Ballhausen D, Baumgartner M, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Gruenert SC, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Clinical presentation in a series of 88 patients with the cblC defect. J Inher Metab Dis 37:831-840, 2014
  9. Awan Z, Aljenedil S, Rosenblatt DS, Cusson J, Gilfix BM, Genest J. Severe hyperhomocysteinemia due to cystathionine beta synthase deficiency and factor V Leiden mutation in a patient with recurrent venous thrombosis. Thrombosis J 12:30, 2014
  10. Watkins D, Rosenblatt DS. Cerebral folate deficiency. Updated. MedLink Neurology http://www.medlink.com/MedLinkContent.asp, 2014
  11. Watkins D, Rosenblatt DS. Folic acid deficiency. Updated. MedLink Neurology http://www.medlink.com/MedLinkContent.asp, 2014
  12. Atkinson C, Miousse IR, Watkins D, Rosenblatt DS, Raiman JAJ. Clinical, biochemical, and molecular presentation in a patient with the cblD-variant 1 inborn error of cobalamin metabolism. JIMD Rep 17:77-81, 2014
  13. Quintana AM, Geiger EA, Achilly N, Rosenblatt DS, Maclean KN, Stabler SP, Arlinger KB, Appel B, Shaikh TH. Hcfc1, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Dev Biol 396:94-106, 2014
  14. Deme JC, Hancock MA, Xia X, Plesa M, Kim JC, Carpenter EP, Rosenblatt DS, Coulton JW. Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. Molecular Membrane Biology 31:250-261, 2014
  15. Carmel R, Watkins D, Rosenblatt DS. Megaloblastic anemia. In Nathan & Oski’s Hematology of Infancy and Childhood, 8th Edition (Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds) 2014.

 

2015

  1. Watkins D, Venditti CP, Rosenblatt DS. Vitamins: cobalamin and folate. In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th Edition (Rosenberg RN, Pascual JM, eds) 2015.
  2. Field MS, Kamynina E, Watkins D, Rosenblatt DS, Stover PJ. Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis Proc Natl Acad Sci USA 112:400-405, 2015
  3. Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR. Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. J Inher Metab Dis 38:863-872, 2015
  4. Rosenblatt DS. Obituary: F. Clark Fraser. Am J Med Genet 97:5, 2015
  5. Field MS, Kamynina E, Watkins D, Rosenblatt DS, Stover PJ. New Insights into the Metabolic and Nutritional Determinants of Severe Combined Immunodeficiency. Rare Diseases 3:e1112479, 2015

 

2016

  1. Rosenblatt DS, Watkins D. Prenatal diagnosis of miscellaneous biochemical disorders. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th edition, Milunsky A, Milunsky JM (eds),Wiley Blackwell, pp 927-941, 2016
  2. Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med 18:162-167, 2016
  3. Gupta S, Fahiminiya S, Wang T, Dempsey Nunez L, Rosenblatt DS, Gibson WT, Gilfix BM, Bergeron JJM, Jerome-Majewska LA. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23. Cold Spring Harb Mol Case Stud 2:a000737, 2016.
  4. Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. Mol Genet Metab 117:363-368, 2016
  5. Watkins D, Rosenblatt DS. Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism. Biochimie 126:3-5, 2016
  6. Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Next generation sequencing of patients with mut methylmalonic aciduria: validation of somatic cell studies and identification of 16 novel mutations. Mol Genet Metab 118:264-271, 2016
  7. Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Séguin C. Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. J Med Genet 53:705-709, 2016
  8. Pupavac M, Watkins D, Petrella F, Fahiminiya S, Janer A, Cheung W, Gingras AC, Pastinen T, Muenzer J, Majewski J, Shoubridge EA, Rosenblatt DS. Inborn error of cobalamin metabolism associated with the intracellular accumulation of transcobalamin-bound cobalamin and mutations in ZNF143, which codes for a transcriptional activator. Human Mutation 37:976-982, 2016
  9. Waters PJ, Thuriot F, Clarke JTR, Gravel S, Watkins D, Rosenblatt DS, Lévesque S. Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. Mol Genet Metab Rep 9:19-24, 2016
  10. Rosenblatt DS, Watkins D, Rajabi F, Levy HL. Commentary on: Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotech 34:1103-1104, 2016
  11. Watkins D, Rosenblatt DS, Fowler B. Disorders of folate and cobalamin transport and metabolism. In: Inborn Metabolic Diseases, 6th Edition, Saudubray JM, Baumgartner M, Walter J (eds) Springer pp 385-399, 2016
  12. Watkins D, Rosenblatt DS. Inherited defects in cobalamin metabolism. In: Vitamin B12: Advances and Insights, Obeid R (ed) CRC Press, Boca Raton, 2017
  13. Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Corrigendum to “Next generation sequencing of patients with mut methylmalonic aciduria: validation of somatic cell studies and identification of 16 novel mutations.” Mol Genet Metab 120:295, 2016

 

2017

  1. Pupavac M, Zawati M, Rosenblatt DS. A RaDiCAL gene hunt. J Taibah University Med Sci 12:194-198, 2017
  2. Kernohan KD, Dyment DA, Pupavac M, McBride A, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge EA, Mhanni A, Myers T, Farrow E, Kaussman J, Safina N, Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentyltransferase (TRIT1) gene. Hum Mut 38:511-516, 2017
  3. Quintana AM, Yu HC, Brebner A, Geiger EA, Appel B, Cheung W, Pupavac M, Shen SH, Watkins D, Skovby F, Pastinen T, Rosenblatt DS, Shaikh TH. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet 26:2838-2849, 2017
  4. Watkins D, Morel CF, Rosenblatt DS. Inborn errors of folate and cobalamin transport and metabolism. In: Pediatric Endocrinology and Inborn Errors of Metabolism 2nd Edition (Sarafoglou K, Hoffmann GF, Roth KS, eds) McGraw –Hill, New York, pp. 287-307, 2017

 

2018

  1. Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayak J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby B, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorine Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nature Comm 9:67, 2018
  2. Campanello GC, Ruetz M, Dodge DJ, Gouda H, Gupta A, Twahir UT, Killian MM, Watkins D, Rosenblatt DS, Brunold TC, Warncke K, Smith JL, Banerjee R. Sacrificial cobalt-carbon bond homolysis in coenzyme B12 as a cofactor conservation strategy. J Am Chem Soc 140:13205-13208, 2018

 

2019

  1. Wang T, Azeddine B, Mah W, Harvey EJ, Rosenblatt D, Séguin C. Osteonecrosis of the femoral head: genetic basis. International Orthopaedics 43:519-530, 2019
  2. Ruetz M, Campanello GC, McDevitt L, Yokom AL, Watkins D, Rosenblatt DS, Ohi MD, Southworth DR, Banerjee R. Allosteric regulation of oligomerization by a B12 trafficking G-protein is corrupted in methylmalonic aciduria. Cell Chem Biol 26:960-969, 2019
  3. Wehbe Z, Behringer S, Altabi KI, Watkins D, Rosenblatt DS, Spierkerkoetter U, Tucci S. The emerging role of the mitochondrial fatty acid synthase (mtFSII) in the regulation of energy metabolism. Biochim Biophys Acta Mol Cell Biol Lipids 1864:1629-1643, 2019

 

2020

  1. Abdrabo LS, Watkins D, Wang SR, Lafond-Lapalme J, Riviere JB, Rosenblatt DS. Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. Genet Med 22:432-436, 2020
  2. Watkins D, Venditti CP, Rosenblatt DS. Vitamins: cobalamin and folate. In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 6th Edition (Rosenberg RN, Pascual JM, eds) 2020.
  3. Watkins D, Rosenblatt DS. Immunodeficiency and inborn disorders of vitamin B12 and folate. Current Opin Clin Nutr Metab Care 23:241-246 2020
  4. Bidla G, Watkins D, Chéry C, Froese DS, Ells C, Kerachian M, Saskin A, Christensen KE, Gilfix BM, Guéant JL, Rosenblatt DS. Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency. Mol Genet Metab 130:179-182, 2020
  5. Yeganeh M, Basha T, Abdrabo LS, Wang SR, Lafond-Lapalme J, Rivière JB, Lejtenyi D, Rosenblatt DS, McCusker C, Alizadehfar R, Mazer BD. Primary antibody deficiency associated with ring chromosome 18. LymphoSign J 7:25-36, 2020
  6. Rashka C, Hergalant S, Oussalah A, Camadro JM, Motorine Y, Hassan Z, Baumgartner MR, Rosenblatt DS, Feillet F, Guéant JL, Coelho D. Transcriptomic analysis of fibroblasts from patients with cblC and cblG inherited defects of cobalamin metabolism reveals global dysregulation of alternative splicing. Hum Mol Genet 29:1969-1985, 2020
  7. Bascunana C, El Helou J, Rauch F, Bardai G, Glorieux FH, Riviere JB, Byers P, Kaplan PB, Rosenblatt DS. Perspectives on the evolution of genetic counselling: experience over three decades in a family with recurrent lethal osteogenesis imperfecta. Mol Genet Metab 131:114-115, 2020

 

2021

  1. Rosenblatt DS, Watkins D. Prenatal diagnosis of disorders of folate and cobalamin metabolism. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 8th Edition Milunsky A, Milunsky JM (eds) John Wiley and Sons, Hoboken, pp 1035-1049, 2021.
  2. Bidla G, Rosenblatt DS, Gilfix BM. Identification of variants in alpha-1-antitrypsin by high resolution melting. J Applied Lab Med 6:715-728, 2021
  3. Sorin M, Watkins D, Gilfix BG, Rosenblatt DS. Methionine dependence in tumor cells: the potential role of cobalamin and MMACHC. Mol Genet Metab 132:155-161, 2021
  4. Weile J, Kishore N, Run S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. Shifting landscapes of human MTHFR missense variant effects. Am J Hum Genet 108:1283-1300, 2021

 

2022

  1. Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR. Methionine synthase deficiency: variable clinical presentation and benefit of early diagnosis and treatment. J Inher Metab Dis 45:157-168, 2022
  2. Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajam P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poché RA. Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and a ribosomopathy. Nature Comm 13(1):134, 2022
  3. Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Brown ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan JL, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC. Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. Am J Med Genet Part A188A:1124-1141, 2022
  4. Guéant JL, Siblini Y, Chéry C, Schmitt G, Guéant-Rodriguez RM, Coelho D, Watkins D, Rosenblatt DS, Oussalah A. Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes. Hum Genet 141:1309-1325, 2022
  5. Watkins D, Rosenblatt DS. Inherited defects of cobalamin metabolism. Vitamins & Hormones 119:355-376, 2022
  6. El Helou J, Perry TB, Anastasio N, Holbrook KA, Rosenblatt DS. Lesssons on the value of long-term follow-up from counselling of a family with severe autosomal recessive congenital ichtyosis. Mol Genet Metab 135:309-310, 2022
  7. Oussalah A, Siblini Y, Hergalant S, Chery C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Bareke E, Chung WK, Ficicioglu C, Feillet F, Froese S, Baumgartner MR; Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Gueant JL. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenet 14:52, 2022
  8. De Carvalho Nunes G, Grenier K, Maedler Kron C, Kitzler T, El Helou J, Rosenblatt DS, Olivier F. Pulmonary lymphangiectasia in myotubular myopathy : a novel unrecognized association? Neuromuscular Disorders 32:512-515, 2022
  9. Watkins D, Froese DS, Fowler B. Disorders of cobalamin and folate transport and metabolism. In: Inborn Metabolic Diseases, 7th Edition, Saudubray JM, Baumgartner M, Garcia-Cazorla A, Walter J (eds) Springer pp. 511-529, 2022
  10. Kubicek S, Lin JM, D’Angelo L, Buphamalai P, Siklos M, Genger JW, Hofstätter G, Koren A, Runggatscher K, Guertl B, Froese DS, Rosenblatt D, Hannich JT, Klavins K, Bergthaler A, Menche J, Sdelci S. Distinct MTHFD1 enzymatic activities control a switch between adenosine dependency and toxicity. Nature Cell Biol (submitted) 2022

 

2023

  1. Melvill K, Fitzpatrick J, Rosenblatt DS. Perspective on the future of genetic counseling assistants – Should it be a steppingstone or a stand-alone career? Mol Genet Metab 138:107370, 2023

2024

  1. Bauer WG, Watkins D, Zacharias C, Gilfix BM, Rosenblatt DS. Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation. Mol. Genet. Metab. 141:108111

 

Gilfix, BM Publications

2014

  1. Gilfix BM. Utility of measuring serum or red blood cell folate in the era of folate fortification of flour. Clin Biochem. 2014 May;47(7-8):533-8. doi: 10.1016/j.clinbiochem.2014.01.023. Epub 2014 Jan 31. PMID: 24486651.
  2. Grunbaum AM, Gosselin S, Gilfix BM, Blank DW. Comment on complications following antidotal use of intravenous lipid emulsion therapy (Levine et Al., J Med Toxicol 2013). J Med Toxicol. 2014 Jun;10(2):245-6. doi: 10.1007/s13181-014-0388-1. PMID: 24515529; PMCID: PMC4057532.

2015

  1. Gosselin S, Morris M, Miller-Nesbitt A, Hoffman RS, Hayes BD, Turgeon AF, Gilfix BM, Grunbaum AM, Bania TC, Thomas SH, Morais JA, Graudins A, Bailey B, Mégarbane B, Calello DP, Levine M, Stellpflug SJ, Hoegberg LC, Chuang R, Stork C, Bhalla A, Rollins CJ, Lavergne V; AACT Lipid Emulsion Therapy workgroup. Methodology for AACT evidence-based recommendations on the use of intravenous lipid emulsion therapy in poisoning. Clin Toxicol (Phila). 2015 Jul;53(6):557-64. doi: 10.3109/15563650.2015.1052498. Epub 2015 Jun 10. PMID: 26059735.

2016

  1. Gupta S, Fahiminiya S, Wang T, Dempsey Nunez L, Rosenblatt DS, Gibson WT, Gilfix B, Bergeron JJ, Jerome-Majewska LA. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000737. doi: 10.1101/mcs.a000737. PMID: 27148587; PMCID: PMC4853519.
  2. Gilfix BM. The Importance of Assessment of Function in the Era of In Silico Analysis. Hum Mutat. 2016 Nov;37(11):1119. doi: 10.1002/humu.23126. PMID: 27737503.
  3. Grunbaum AM, Gilfix BM, Hoffman RS, Lavergne V, Morris M, Miller-Nesbitt A, Gosselin S. Review of the effect of intravenous lipid emulsion on laboratory analyses. Clin Toxicol (Phila). 2016;54(2):92-102. doi: 10.3109/15563650.2015.1115515. Epub 2015 Dec 1. PMID: 26623668.

2017

  1. Gilfix BM. Congenital Disorders of Glycosylation: A Pipeline to Treatment? Hum Mutat. 2017 Feb;38(2):127. doi: 10.1002/humu.23156. PMID: 28073185.

2019

  1. Gilfix BM. Congenital disorders of glycosylation and the challenge of rare diseases. Hum Mutat. 2019 Aug;40(8):1010-1012. doi: 10.1002/humu.23829. Epub 2019 Aug 2. PMID: 31374155.
  2. Brasell EJ, Chu LL, Akpa MM, Eshkar-Oren I, Alroy I, Corsini R, Gilfix BM, Yamanaka Y, Huertas P, Goodyer P. The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis. PLoS One. 2019 Dec 4;14(12):e0223954. doi: 10.1371/journal.pone.0223954. PMID: 31800572; PMCID: PMC6892560.

2020

  1. Chen T, Gilfix BM, Rivera J, Sadeghi N, Richardson K, Hier MP, Forest VI, Fishman D, Caglar D, Pusztaszeri M, Mitmaker EJ, Payne RJ. The Role of the ThyroSeq v3 Molecular Test in the Surgical Management of Thyroid Nodules in the Canadian Public Health Care Setting. Thyroid. 2020 Sep;30(9):1280-1287. doi: 10.1089/thy.2019.0539. Epub 2020 May 5. PMID: 32242511.
  2. Mattman A, Gilfix BM, Chen SX, DeMarco ML, Kyle BD, Parker ML, Agbor TA, Jung B, Selvarajah S, Barakauskas VE, Vaags AK, Estey MP, Nelson TN, Speevak MD. Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison. Clin Biochem. 2020 Jul;81:27-33. doi: 10.1016/j.clinbiochem.2020.05.001. Epub 2020 May 6. PMID: 32387440.

2021

  1. Therrien C, Serhir B, Bélanger-Collard M, Skrzypczak J, Shank DK, Renaud C, Girouard J, Loungnarath V, Carrier M, Brochu G, Tourangeau F, Gilfix B, Piche A, Bazin R, Guérin R, Lavoie M, Martel-Laferrière V, Fortin C, Benoit A, Marcoux D, Gauthier N, Laumaea AM, Gasser R, Finzi A, Roger M. Multicenter Evaluation of the Clinical Performance and the Neutralizing Antibody Activity Prediction Properties of 10 High-Throughput Serological Assays Used in Clinical Laboratories. J Clin Microbiol. 2021 Feb 18;59(3):e02511-20. doi: 10.1128/JCM.02511-20. PMID: 33303562; PMCID: PMC8106733.

2022

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