Jacek Majewski Ph.D.

Recent Publications

  1. Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Chardon JW, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat. 2013 Oct 1. doi: 10.1002/humu.22451.
  2. Caignard G, Leiva-Torres GA, Leney-Greene M, Charbonneau B, Dumaine A, Fodil-Cornu N, Pyzik M, Cingolani P, Schwartzentruber J, Dupaul-Chicoine J, Guo H, Saleh M, Veillette A, Lathrop M, Blanchette M, Majewski J, Pearson A, Vidal SM. Genome-Wide Mouse Mutagenesis Reveals CD45-Mediated T Cell Function as Critical in Protective Immunity to HSV-1. PLoS Pathog. 2013 Sep;9(9):e1003637.
  3. Alonso-Perez E, Fernandez-Poceiro R, Lalonde E, Kwan T, Calaza M, Gomez-Reino JJ, Majewski J, Gonzalez A. Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies. Arthritis Res Ther. 2013 Aug 13;15(4):R82
  4. Fahiminiya S, Majewski J, Roughley P, Roschger P, Klaushofer K, Rauch F. Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. Bone. 2013 Nov;57(1):41-6.
  5. Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis. Hum Mutat. 2013 Oct;34(10):1366-70
  6. Górnik-Właszczuk E, Majewski J, Szczygieł R, Dusiel A. Anaesthesia in children with osteogenesis imperfecta - report of 14 general anaesthetics in three children. Anaesthesiol Intensive Ther. 2013 Apr-Jun;45(2):85-8
  7. Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet J Rare Dis. 2013 Jul 9;8(1):98.
  8. Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, Gronych J, Lasitschka B, Schmidt S, Seker-Cin H, Witt H, Sultan M, Ralser M, Northcott PA, Hovestadt V, Bender S, Pfaff E, Stark S, Faury D, Schwartzentruber J, Majewski J, Weber UD, Zapatka M, Raeder B, Schlesner M, Worth CL, Bartholomae CC, von Kalle C, Imbusch CD, Radomski S, Lawerenz C, van Sluis P, Koster J, Volckmann R, Versteeg R, Lehrach H, Monoranu C, Winkler B, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, Ebinger M, Schuhmann MU, Cho YJ, Pomeroy SL, von Deimling A, Witt O, Taylor MD, Wolf S, Karajannis MA, Eberhart CG, Scheurlen W, Hasselblatt M, Ligon KL, Kieran MW, Korbel JO, Yaspo ML, Brors B, Felsberg J, Reifenberger G, Collins VP, Jabado N, Eils R, Lichter P, Pfister SM; International Cancer Genome Consortium PedBrain Tumor Project. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet. 2013 Aug;45(8):927-32.
  9. Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11;93(1):158-66
  10. Leblanc MA, Penney LS, Gaston D, Shi Y, Aberg E, Nightingale M, Jiang H, Gillett RM, Fahiminiya S, Macgillivray C, Wood EP, Acott PD, Khan MN, Samuels ME, Majewski J, Orr A, McMaster CR, Bedard K. A novel rearrangement of occludin causes brain calcification and renal dysfunction. Hum Genet. 2013 Nov;132(11):1223-34
  11. Majewski J, Karkowski G, Miszalski-Jamka T, Lelakowski J, Urbańczyk M. [Ablation of slow pathway in a patient with persistent left superior vena cava] . Kardiol Pol. 2013;71(5):509-11
  12. Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD. Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. J Pathol. 2013 Sep;231(1):35-43
  13. Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 2013 Apr 26;8(1):62
  14. McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62
  15. Shi Y, Majewski J. FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics. 2013 Jun 1;29(11):1461-2.
  16. Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP. Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J Allergy Clin Immunol. 2013 Jun;131(6):1594-603.
  17. Zhang J, Shi Y, Lalonde E, Li L, Cavallone L, Ferenczy A, Gotlieb WH, Foulkes WD, Majewski J. Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient. BMC Cancer. 2013 Mar 22;13:146.
  18. Koczy B, Semenowicz J, Majewski J, Wąsik J. Mortality as an indicator of treatment quality after pertrochanteric fractures in the elderly. Pol Orthop Traumatol. 2013 Feb 26;78:65-9
  19. Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013 May;50(5):345-8.
  20. Gupta IR, Baldwin C, Auguste D, Ha KC, El Andalousi J, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet. 2013 May;50(5):330-8
  21. Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19.
  22. Fontebasso AM, Schwartzentruber J, Khuong-Quang DA, Liu XY, Sturm D, Korshunov A, Jones DT, Witt H, Kool M, Albrecht S, Fleming A, Hadjadj D, Busche S, Lepage P, Montpetit A, Staffa A, Gerges N, Zakrzewska M, Zakrzewski K, Liberski PP, Hauser P, Garami M, Klekner A, Bognar L, Zadeh G, Faury D, Pfister SM, Jabado N, Majewski J. Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas. Acta Neuropathol. 2013 May;125(5):659-69. doi: 10.1007/s00401-013-1095-8. Epub 2013 Feb 16.
  23. Rødahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Kråkenes J, Boman H. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. Am J Ophthalmol. 2013 May;155(5):946-53. doi: 10.1016/j.ajo.2012.11.028. Epub 2013 Feb 6.
  24. Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J. Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings. Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31.
  25. Lelakowski J, Domagała TB, Rydlewska A, Januszek R, Kotula-Horowitz K, Majewski J, Ząbek A, Małecka B. Relationship between changes in selected thrombotic and inflammatory factors, echocardiographic parameters and the incidence of venous thrombosis after pacemaker implantation based on our own observations. Arch Med Sci. 2012 Dec 20;8(6):1027-34. doi: 10.5114/aoms.2012.28600. Epub 2012 May 13.
  26. Lelakowski J, Piekarz J, Rydlewska A, Majewski J, Senderek T, Ząbek A, Małecka B. Factors predisposing to ventricular tachyarrhythmia leading to appropriate ICD intervention in patients with coronary artery disease or non-ischaemic dilated cardiomyopathy. Kardiol Pol. 2012;70(12):1264-75.
  27. Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. “Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy”. Pediatrics. 2013 Jan 14. PMID: 23319530
  28. Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoëy J; FORGE Canada Consortium. “Bioinactive ACTH Causing Glucocorticoid Deficiency”. J Clin Endocrinol Metab. 2013 Jan 4. PMID: 23293326
  29. Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C; FORGE Canada Consortium, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. “Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2”. Am J Hum Genet. 2012 Dec 31. PMID: 23290074
  30. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. “Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients”. J Med Genet. 2013 Jan;50(1):21-4. PMID: 23240094
  31. McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA, Forge Canada Consortium, Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. “Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency”. Orphanet J Rare Dis. 2012 Nov 22;7(1):90. PMID: 23181892
  32. Beaulieu YB, Kleinman CL, Landry-Voyer AM, Majewski J, Bachand F. “Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1”. PLoS Genet. 2012 Nov;8(11):e1003078. PMID: 23166521
  33. Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. “Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency”. Hum Mutat. 2012 Nov 15. PMID: 23161826
  34. Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS. “Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing”. Mol Genet Metab. 2012 Dec;107(4):664-8. PMID: 23141461
  35. Sturm D, Witt H, Hovestadt V, Khuong-Quang DA, Jones DT, Konermann C, Pfaff E, Tönjes M, Sill M, Bender S, Kool M, Zapatka M, Becker N, Zucknick M, Hielscher T, Liu XY, Fontebasso AM, Ryzhova M, Albrecht S, Jacob K, Wolter M, Ebinger M, Schuhmann MU, van Meter T, Frühwald MC, Hauch H, Pekrun A, Radlwimmer B, Niehues T, von Komorowski G, Dürken M, Kulozik AE, Madden J, Donson A, Foreman NK, Drissi R, Fouladi M, Scheurlen W, von Deimling A, Monoranu C, Roggendorf W, Herold-Mende C, Unterberg A, Kramm CM, Felsberg J, Hartmann C, Wiestler B, Wick W, Milde T, Witt O, Lindroth AM, Schwartzentruber J, Faury D, Fleming A, Zakrzewska M, Liberski PP, Zakrzewski K, Hauser P, Garami M, Klekner A, Bognar L, Morrissy S, Cavalli F, Taylor MD, van Sluis P, Koster J, Versteeg R, Volckmann R, Mikkelsen T, Aldape K, Reifenberger G, Collins VP, Majewski J, Korshunov A, Lichter P, Plass C, Jabado N, Pfister SM. “Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma”. Cancer Cell. 2012 Oct 16;22(4):425-37. PMID: 23079654
  36. Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. “An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect”. Am J Hum Genet. 2012 Oct 5;91(4):737-43. PMID: 23022098
  37. Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL. “Mutations in TMEM231 cause Joubert syndrome in French Canadians”. J Med Genet. 2012 Oct;49(10):636-41. PMID: 23012439
  38. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. “Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism”. Nat Genet. 2012 Oct;44(10):1152-5.
  39. Liu XY, Gerges N, Korshunov A, Sabha N, Khuong-Quang DA, Fontebasso AM, Fleming A, Hadjadj D, Schwartzentruber J, Majewski J, Dong Z, Siegel P, Albrecht S, Croul S, Jones DT, Kool M, Tonjes M, Reifenberger G, Faury D, Zadeh G, Pfister S, Jabado N. “Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations”. Acta Neuropathol. 2012 Nov;124(5):615-25. PMID: 22886134
  40. Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. “Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration”. Nat Genet. 2012 Sep;44(9):1035-9. PMID: 22842230
  41. Kleinman CL, Adoue V, Majewski J. “RNA editing of protein sequences: a rare event in human transcriptomes”. RNA. 2012 Sep;18(9):1586-96. PMID: 22832026
  42. Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. “De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes”. Nat Genet. 2012 Jun 24;44(8):934-40. PMID: 22729224
  43. Khuong-Quang DA, Buczkowicz P, Rakopoulos P, Liu XY, Fontebasso AM, Bouffet E, Bartels U, Albrecht S, Schwartzentruber J, Letourneau L, Bourgey M, Bourque G, Montpetit A, Bourret G, Lepage P, Fleming A, Lichter P, Kool M, von Deimling A, Sturm D, Korshunov A, Faury D, Jones DT, Majewski J, Pfister SM, Jabado N, Hawkins C. “K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas” . Acta Neuropathol. 2012 Sep;124(3):439-47. PMID: 22661320
  44. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. “Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome”. Am J Hum Genet. 2012 May 4;90(5):925-33. PMID: 22541558
  45. Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL. “Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population”. Am J Hum Genet. 2012 Apr 6;90(4):693-700. PMID: 22425360
  46. Huot MÉ, Vogel G, Zabarauskas A, Ngo CT, Coulombe-Huntington J, Majewski J, Richard S. “The Sam68 STAR RNA-binding protein regulates mTOR alternative splicing during adipogenesis”. Mol Cell. 2012 Apr 27;46(2):187-99. PMID: 22424772
  47. Kleinman CL, Majewski J. “Comment on "Widespread RNA and DNA sequence differences in the human transcriptome"”. Science. 2012 Mar 16;335(6074):1302; author reply 1302. PMID: 22422962
  48. Majewski J, Rosenblatt DS. “Exome and whole-genome sequencing for gene discovery: the future is now!”. Hum Mutat. 2012 Apr;33(4):591-2. PMID: 22411407
  49. Wu X, Northcott PA, Dubuc A, Dupuy AJ, Shih DJ, Witt H, Croul S, Bouffet E, Fults DW, Eberhart CG, Garzia L, Van Meter T, Zagzag D, Jabado N, Schwartzentruber J, Majewski J, Scheetz TE, Pfister SM, Korshunov A, Li XN, Scherer SW, Cho YJ, Akagi K, MacDonald TJ, Koster J, McCabe MG, Sarver AL, Collins VP, Weiss WA, Largaespada DA, Collier LS, Taylor MD. “Clonal selection drives genetic divergence of metastatic medulloblastoma” . Nature. 2012 Feb 15;482(7386):529-33. PMID: 22343890
  50. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. “Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly”. Am J Hum Genet. 2012 Feb 10;90(2):369-77. PMID: 22305528
  51. Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N. “Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma”. Nature. 2012 Jan 29;482(7384):226-31. PMID: 22286061
  52. Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM. “Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome”. Am J Hum Genet. 2012 Feb 10;90(2):308-13. PMID: 22265015
  53. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. “Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome”. Am J Hum Genet. 2012 Feb 10;90(2):282-9. PMID: 22265014
  54. Ha KC, Lalonde E, Li L, Cavallone L, Natrajan R, Lambros MB, Mitsopoulos C, Hakas J, Kozarewa I, Fenwick K, Lord CJ, Ashworth A, Vincent-Salomon A, Basik M, Reis-Filho JS, Majewski J, Foulkes WD. “Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines”. BMC Med Genomics. 2011 Oct 27;4:75. PMID: 22032724
  55. Majewski J, Wang Z, Lopez I, Al Humaid S, Ren H, Racine J, Bazinet A, Mitchel G, Braverman N, Koenekoop RK. “A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing”. J Med Genet. 2011 Sep;48(9):593-6. PMID: 21862673
  56. Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS. “Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband”. J Med Genet. 2011 Sep;48(9):590-2. PMID: 21813566
  57. Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”. J Med Genet. 2011 Sep;48(9):602-5. PMID: 21785126
  58. Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N. “What can exome sequencing do for you?”. J Med Genet. 2011 Sep;48(9):580-9. PMID: 21730106
  59. Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium, Michaud JL, Samuels ME. “Mutations in NOTCH2 in families with Hajdu-Cheney syndrome”. Hum Mutat. 2011 Oct;32(10):1114-7. PMID: 21681853
  60. Akoury E, El Zir E, Mansour A, Mégarbané A, Majewski J, Slim R. “A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome”. Ophthalmic Genet. 2011 Nov;32(4):245-9. PMID: 21675857
  61. Alonso-Perez E, Suarez-Gestal M, Calaza M, Kwan T, Majewski J, Gomez-Reino JJ, Gonzalez A. “Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines”. Arthritis Res Ther. 2011 May 31;13(3):R80. PMID: 21627826
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