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Items: 1 to 50 of 454

1.

CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection.

Yuki KE, Marei H, Fiskin E, Eva MM, Gopal AA, Schwartzentruber JA, Majewski J, Cellier M, Mandl JN, Vidal SM, Malo D, Dikic I.

Nat Microbiol. 2019 Jul 8. doi: 10.1038/s41564-019-0484-8. [Epub ahead of print]

PMID:
31285585
2.

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.

Beauchamp MC, Djedid A, Daupin K, Clokie K, Kumar S, Majewski J, Jerome-Majewska LA.

PLoS One. 2019 Jul 5;14(7):e0219280. doi: 10.1371/journal.pone.0219280. eCollection 2019.

3.

Epigenomic Reordering Induced by Polycomb Loss Drives Oncogenesis but Leads to Therapeutic Vulnerabilities in Malignant Peripheral Nerve Sheath Tumors.

Wojcik JB, Marchione DM, Sidoli S, Djedid A, Lisby A, Majewski J, Garcia BA.

Cancer Res. 2019 Jul 1;79(13):3205-3219. doi: 10.1158/0008-5472.CAN-18-3704. Epub 2019 Mar 21.

PMID:
30898839
4.

H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis.

Harutyunyan AS, Krug B, Chen H, Papillon-Cavanagh S, Zeinieh M, De Jay N, Deshmukh S, Chen CCL, Belle J, Mikael LG, Marchione DM, Li R, Nikbakht H, Hu B, Cagnone G, Cheung WA, Mohammadnia A, Bechet D, Faury D, McConechy MK, Pathania M, Jain SU, Ellezam B, Weil AG, Montpetit A, Salomoni P, Pastinen T, Lu C, Lewis PW, Garcia BA, Kleinman CL, Jabado N, Majewski J.

Nat Commun. 2019 Mar 19;10(1):1262. doi: 10.1038/s41467-019-09140-x.

5.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
6.

Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.

Takano T, Bareke E, Takeda N, Aoudjit L, Baldwin C, Pisano P, Matsuda J, El Andalousi J, Muhtadie L, Bernard C, Majewski J, Miyazaki T, Yamamura KI, Gupta IR.

Kidney Int. 2019 Jan;95(1):57-61. doi: 10.1016/j.kint.2018.08.014. Epub 2018 Oct 26.

PMID:
30612599
7.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

Accogli A, Guerrero K, D'Agostino MD, Tran L, Cieuta-Walti C, Thiffault I, Chénier S, Schwartzentruber J, Majewski J; Care4Rare Canada Consortium, Bernard G.

J Child Neurol. 2019 Feb;34(2):74-80. doi: 10.1177/0883073818811223. Epub 2018 Nov 28.

PMID:
30486714
8.

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8.

PMID:
30429576
9.

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R.

Am J Hum Genet. 2018 Nov 1;103(5):740-751. doi: 10.1016/j.ajhg.2018.10.007.

10.

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, Kleinman CL, Valera ET, Bassenden AV, Berghuis AM, Majewski J, Nelson MT, Gomez RS, Jabado N.

Nat Commun. 2018 Nov 1;9(1):4572. doi: 10.1038/s41467-018-06690-4.

11.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Erratum in: Nat Genet. 2018 Nov 14;:.

PMID:
30374066
12.

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.

Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD.

Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20.

PMID:
30362666
13.

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

Alirezaie N, Kernohan KD, Hartley T, Majewski J, Hocking TD.

Am J Hum Genet. 2018 Oct 4;103(4):474-483. doi: 10.1016/j.ajhg.2018.08.005. Epub 2018 Sep 13.

14.

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.

Valera ET, McConechy MK, Gayden T, Rivera B, Jones DTW, Wittmann A, Han H, Bareke E, Nikbakht H, Mikael L, Queiroz RG, Suazo VK, Phi JH, Kim SK, Park SH, Fukaya R, Yum MS, Ko TS, de Oliveira RS, Machado HR, Brassesco MS, do Santos AC, Simão GN, Ramalho LNZ, Neder L, Scrideli CA, Tone LG, Majewski J, Jabado N.

Acta Neuropathol. 2018 Oct;136(4):657-660. doi: 10.1007/s00401-018-1898-8. Epub 2018 Aug 24. No abstract available.

15.

Humidity Measurement in Carbon Dioxide with Capacitive Humidity Sensors at Low Temperature and Pressure.

Lorek A, Majewski J.

Sensors (Basel). 2018 Aug 9;18(8). pii: E2615. doi: 10.3390/s18082615.

16.

Absorbable sutures in general surgery - review, available materials, and optimum choices.

Gierek M, Kuśnierz K, Lampe P, Ochała G, Kurek J, Hekner B, Merkel K, Majewski J.

Pol Przegl Chir. 2018 Apr 30;90(2):34-37. doi: 10.5604/01.3001.0010.5632. Review.

17.

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.

Qian J, Nguyen NMP, Rezaei M, Huang B, Tao Y, Zhang X, Cheng Q, Yang H, Asangla A, Majewski J, Slim R.

Eur J Hum Genet. 2018 Jul;26(7):1007-1013. doi: 10.1038/s41431-018-0141-3. Epub 2018 Apr 25.

18.

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium, Rodenburg RJ, Boycott KM, Penney LS.

J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20.

PMID:
29560582
19.

Enhanced Ordering in Monolayers Containing Glycosphingolipids: Impact of Carbohydrate Structure.

Watkins EB, Frey SL, Chi EY, Cao KD, Pacuszka T, Majewski J, Lee KYC.

Biophys J. 2018 Mar 13;114(5):1103-1115. doi: 10.1016/j.bpj.2017.12.044.

20.

Pacemaker dependency: how should it be defined?

Majewski JP, Lelakowski J.

Europace. 2018 Oct 1;20(10):1708. doi: 10.1093/europace/euy010. No abstract available.

PMID:
29518191
21.

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R.

Acta Neuropathol. 2018 May;135(5):727-742. doi: 10.1007/s00401-018-1817-z. Epub 2018 Feb 8.

PMID:
29423877
22.

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac 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 BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS.

Nat Commun. 2018 Feb 2;9(1):554. doi: 10.1038/s41467-018-03054-w.

23.

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac 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 BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS.

Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Erratum in: Nat Commun. 2018 Feb 2;9(1):554.

24.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.

Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. No abstract available.

25.

Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Salloum R, McConechy MK, Mikael LG, Fuller C, Drissi R, DeWire M, Nikbakht H, De Jay N, Yang X, Boue D, Chow LML, Finlay JL, Gayden T, Karamchandani J, Hummel TR, Olshefski R, Osorio DS, Stevenson C, Kleinman CL, Majewski J, Fouladi M, Jabado N.

Acta Neuropathol Commun. 2017 Oct 30;5(1):78. doi: 10.1186/s40478-017-0479-8.

26.

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T; Care4Rare Consortium, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M.

Hum Mol Genet. 2017 Oct 1;26(19):3713-3721. doi: 10.1093/hmg/ddx256.

PMID:
28934384
27.

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium, Vanderver A, Bernard G.

Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21.

PMID:
28857146
28.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Bulman DE, Dyment DA, Boycott KM.

Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.

PMID:
28708278
29.

Bmp signaling maintains a mesoderm progenitor cell state in the mouse tailbud.

Sharma R, Shafer MER, Bareke E, Tremblay M, Majewski J, Bouchard M.

Development. 2017 Aug 15;144(16):2982-2993. doi: 10.1242/dev.149955. Epub 2017 Jul 13.

30.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen JS, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J.

Clin Genet. 2018 Jan;93(1):173-177. doi: 10.1111/cge.13086. Epub 2017 Nov 24.

PMID:
28657126
31.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD.

Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23.

32.

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E; Care4Rare Canada Consortium, Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26633. Epub 2017 May 16.

PMID:
28509377
33.

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Lacaria M, Srour M, Michaud JL, Doja A, Miller E, Schwartzentruber J, Goldsmith C, Majewski J; FORGE Canada Consortium, Boycott KM.

Am J Med Genet A. 2017 Jun;173(6):1611-1619. doi: 10.1002/ajmg.a.38231. Epub 2017 Apr 21.

PMID:
28432728
34.

LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples.

Carrot-Zhang J, Majewski J.

Oncotarget. 2017 Jun 6;8(23):37032-37040. doi: 10.18632/oncotarget.16144.

35.

Spatial heterogeneity in medulloblastoma.

Morrissy AS, Cavalli FMG, Remke M, Ramaswamy V, Shih DJH, Holgado BL, Farooq H, Donovan LK, Garzia L, Agnihotri S, Kiehna EN, Mercier E, Mayoh C, Papillon-Cavanagh S, Nikbakht H, Gayden T, Torchia J, Picard D, Merino DM, Vladoiu M, Luu B, Wu X, Daniels C, Horswell S, Thompson YY, Hovestadt V, Northcott PA, Jones DTW, Peacock J, Wang X, Mack SC, Reimand J, Albrecht S, Fontebasso AM, Thiessen N, Li Y, Schein JE, Lee D, Carlsen R, Mayo M, Tse K, Tam A, Dhalla N, Ally A, Chuah E, Cheng Y, Plettner P, Li HI, Corbett RD, Wong T, Long W, Loukides J, Buczkowicz P, Hawkins CE, Tabori U, Rood BR, Myseros JS, Packer RJ, Korshunov A, Lichter P, Kool M, Pfister SM, Schüller U, Dirks P, Huang A, Bouffet E, Rutka JT, Bader GD, Swanton C, Ma Y, Moore RA, Mungall AJ, Majewski J, Jones SJM, Das S, Malkin D, Jabado N, Marra MA, Taylor MD.

Nat Genet. 2017 May;49(5):780-788. doi: 10.1038/ng.3838. Epub 2017 Apr 10.

36.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM.

Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077.

PMID:
28334793
37.

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO; FORGE Canada Consortium.

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1736-1742. doi: 10.1167/iovs.16-20864.

PMID:
28324114
38.

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE.

J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6.

39.

Reversible Lifting of Surface Supported Lipid Bilayers with a Membrane-Spanning Nonionic Triblock Copolymer.

Hayden SC, Junghans A, Majewski J, Firestone MA.

Biomacromolecules. 2017 Apr 10;18(4):1097-1107. doi: 10.1021/acs.biomac.6b01461. Epub 2017 Mar 3.

PMID:
28225603
40.

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

Keser V, Khan A, Siddiqui S, Lopez I, Ren H, Qamar R, Nadaf J, Majewski J, Chen R, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1028-1036. doi: 10.1167/iovs.16-20281.

41.

Half-metre sea-level fluctuations on centennial timescales from mid-Holocene corals of Southeast Asia.

Meltzner AJ, Switzer AD, Horton BP, Ashe E, Qiu Q, Hill DF, Bradley SL, Kopp RE, Hill EM, Majewski JM, Natawidjaja DH, Suwargadi BW.

Nat Commun. 2017 Feb 10;8:14387. doi: 10.1038/ncomms14387.

42.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I.

Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6.

PMID:
28185376
43.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium, Innes AM, Boycott KM.

Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13.

PMID:
28170084
44.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.

J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.

45.

Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas.

Papillon-Cavanagh S, Lu C, Gayden T, Mikael LG, Bechet D, Karamboulas C, Ailles L, Karamchandani J, Marchione DM, Garcia BA, Weinreb I, Goldstein D, Lewis PW, Dancu OM, Dhaliwal S, Stecho W, Howlett CJ, Mymryk JS, Barrett JW, Nichols AC, Allis CD, Majewski J, Jabado N.

Nat Genet. 2017 Feb;49(2):180-185. doi: 10.1038/ng.3757. Epub 2017 Jan 9.

46.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.

La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA.

Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5.

PMID:
28058511
47.

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.

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