Rosenblatt, DS Publications

2025

  1. Malta M, Fortin O, Badner B, Charouf D, Addour-Boudrahem N, Beaudet-Leclair O, Rampakakis E, Rosenblatt DS, Nedelchev AA, Shear R, Carpineta L, Srour M. Posterior fossa malformations in fetuses: A retrospective analysis of imaging characteristics, postnatal imaging concordance, pregnancy outcomes and yield of genetic testing in 116 fetuses. Cerebellum (submitted)
  2. Nguyen TA, Lin JM, Marques ASMC, Fottner M, Bauer LG, Daum D, Scrofani L, Liu Y, Chang C, D’Angelo L, Sanchez J, Bueschl C, Marella N, Buphamalai P, Traversi F, Beres M, Moll HP, Siklos M, Genger JW, Hofstätter G, Villanti L, Malik M, Klimek C, Runggatscher K, Guertl B, Hansen JS, Dobner S, Babosova O, Becirovic T, de Rooij LPMH, Casanova E, Koren A, Froese DS, Rosenblatt DS, Klavins K, Berthaler A, Menche J, Hannich JT,Abele M, Sdelci S, Lang K, Huber KVM, Kubicek S. A non-enzymic role of Nudix hydrolase 5 in repressing purine de novo synthesis. Science 390:1143-1150
  3. Watkins D, Zacharias C, Arbabian-Urquilla K, Ragupathi K, Gilfix BM, Jimenez D, Anastasio N, Rivi``````ere J-B, Rosenblatt DS. Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis. Mol. Genet. Metab. 146(4): 109280
  4. Langleben D, Lesenko L, Fox BD, Eintracht S, Foulkes WD, Rosenblatt DS. Inef-fectiveness of sotatercept therapy in a patient with heritable pulmonary arterial hypertension associated with a previously unreported missense variant in GDF2, the gene for Bone Morphogenic Protein-9. Chest 167:e37-e39
  5. Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa M, Chung CF, Riviêre JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM. Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. Hum Mol Genet 34:368-380

2024

  1. Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O’Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA. The MMACHC variant c.158T>C: mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients. Mol Genet Metab 142:108345
  2. Gouda H, Ji Y, Rath S, Watkins D, Rosenblatt D, Mootha V, Jones JW, Banerjee R. Differential utilization of B12-dependent and independent pathways for propionate metabolism in mammalian cells. J Biol Chem 300:107662
  3. 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

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

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

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 BM, 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

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

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

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

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

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

Gilfix, BM Publications

2025

  1. Geerts CJ, Alvarez F, Gilfix BM, Schultz MJ, Campeau PM. Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature. Mol Genet Metab. 2025 Nov;146(3):109234. doi: 10.1016/j.ymgme.2025.109234

2024

  1. Quispialaya KM, Therriault J, Aliaga A, Tissot C, Servaes S, Rahmouni N, Karikari TK, Benedet AL, Ashton NJ, Macedo AC, Lussier FZ, Stevenson J, Wang YT, Arias JF, Hosseini A, Matsudaira T, Jean-Claude B, Gilfix BM, Zimmer ER, Soucy JP, Pascoal TA, Gauthier S, Zetterberg H, Blennow K, Rosa-Neto P; Alzheimer's Disease Neuroimaging Initiative. Plasma phosphorylated tau181 outperforms [18F] fluorodeoxyglucose positron emission tomography in the identification of early Alzheimer disease. Eur J Neurol. 2024 Dec;31(12):e16255. doi: 10.1111/ene.16255

2022

  1. Dibernardo A, Toledo NP, Robinson A, Osiowy C, Giles E, Day J, Robbin Lindsay L, Drebot MA, Booth TF, Pidduck T, Baily A, Charlton CL, Tipples G, Kanji JN, Brochu G, Lang A, Therrien C, Bélanger-Collard M, Beaulac SN, Gilfix BM, Boivin G, Hamelin MÈ, Carbonneau J, Lévesque S, Martin P, Finzi A, Gendron-Lepage G, Goyette G, Benlarbi M, Gasser R, Fortin C, Martel-Lafferrière V, Lavoie M, Guérin R, Haraoui LP, Renaud C, Jenkins C, O'Brien SF, Drews SJ, Conrod V, Tran V, Awrey B, Scheuermann R, DuPuis A, Payne A, Warszycki C, Girardin R, Lee W, Zahariadis G, Jiao L, Needle R, Cordenbach J, Zaharatos J, Taylor K, Teltscher M, Miller M, Elsherif M, Robertson P, Robinson JL. Evaluation of the performance of multiple immunoassay diagnostic platforms on the National Microbiology Laboratory SARS-CoV-2 National Serology Panel. J Assoc Med Microbiol Infect Dis Can. 2022 Sep 27;7(3):186-195. doi: 10.3138/jammi-2021-0026. PMID: 36337598; PMCID: PMC9629736.
  2. Quispialaya KM, Therriault J, Aliaga A, Zimmermann M, Fernandez-Arias J, Lussier F, Massarweh G, Pascoal T, Soucy JP, Gauthier S, Jean-Claude B, Gilfix B, Vitali P, Rosa-Neto P. Discordance and Concordance Between Cerebrospinal and [18F]FDG-PET Biomarkers in Assessing Atypical and Early-Onset AD Dementia Cases. Neurology. 2022 Nov 29;99(22):e2428-e2436. doi: 10.1212/WNL.0000000000201198. Epub 2022 Oct 20. PMID: 36266044; PMCID: PMC9728035.

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.

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.

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.

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.

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.