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Items: 1 to 50 of 463

1.

Multilayered stable 2D nano-sheets of Ti2NTx MXene: synthesis, characterization, and anticancer activity.

Szuplewska A, Rozmysłowska-Wojciechowska A, Poźniak S, Wojciechowski T, Birowska M, Popielski M, Chudy M, Ziemkowska W, Chlubny L, Moszczyńska D, Olszyna A, Majewski JA, Jastrzębska AM.

J Nanobiotechnology. 2019 Nov 11;17(1):114. doi: 10.1186/s12951-019-0545-4.

2.

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.

Meloche J, Brunet V, Gagnon PA, Lavoie MÈ, Bouchard JB, Nadaf J, Majewski J, Morin C, Laprise C.

Mol Genet Genomic Med. 2019 Oct 2:e992. doi: 10.1002/mgg3.992. [Epub ahead of print]

3.

Shiga Toxin Induces Lipid Compression: A Mechanism for Generating Membrane Curvature.

Watkins EB, Majewski J, Chi EY, Gao H, Florent JC, Johannes L.

Nano Lett. 2019 Oct 9;19(10):7365-7369. doi: 10.1021/acs.nanolett.9b03001. Epub 2019 Sep 25.

PMID:
31538793
4.

A Unique Morphological Phenotype in Chemoresistant Triple-Negative Breast Cancer Reveals Metabolic Reprogramming and PLIN4 Expression as a Molecular Vulnerability.

Sirois I, Aguilar-Mahecha A, Lafleur J, Fowler E, Vu V, Scriver M, Buchanan M, Chabot C, Ramanathan A, Balachandran B, Légaré S, Przybytkowski E, Lan C, Krzemien U, Cavallone L, Aleynikova O, Ferrario C, Guilbert MC, Benlimame N, Saad A, Alaoui-Jamali M, Saragovi HU, Josephy S, O'Flanagan C, Hursting SD, Richard VR, Zahedi RP, Borchers CH, Bareke E, Nabavi S, Tonellato P, Roy JA, Robidoux A, Marcus EA, Mihalcioiu C, Majewski J, Basik M.

Mol Cancer Res. 2019 Sep 19. doi: 10.1158/1541-7786.MCR-19-0264. [Epub ahead of print]

PMID:
31537618
5.

Fibrillar and Nonfibrillar Amyloid Beta Structures Drive Two Modes of Membrane-Mediated Toxicity.

Vander Zanden CM, Wampler L, Bowers I, Watkins EB, Majewski J, Chi EY.

Langmuir. 2019 Sep 26. doi: 10.1021/acs.langmuir.9b02484. [Epub ahead of print]

PMID:
31509701
6.

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.

Weinberg DN, Papillon-Cavanagh S, Chen H, Yue Y, Chen X, Rajagopalan KN, Horth C, McGuire JT, Xu X, Nikbakht H, Lemiesz AE, Marchione DM, Marunde MR, Meiners MJ, Cheek MA, Keogh MC, Bareke E, Djedid A, Harutyunyan AS, Jabado N, Garcia BA, Li H, Allis CD, Majewski J, Lu C.

Nature. 2019 Sep;573(7773):281-286. doi: 10.1038/s41586-019-1534-3. Epub 2019 Sep 4.

PMID:
31485078
7.

A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.

Wong C, Chen F, Alirezaie N, Wang Y, Cuggia A, Borgida A, Holter S, Lenko T, Domecq C; Alzheimer’s Disease Neuroimaging Initiative, Petersen GM, Syngal S, Brand R, Rustgi AK, Cote ML, Stoffel E, Olson SH, Roberts NJ, Akbari MR, Majewski J, Klein AP, Greenwood CMT, Gallinger S, Zogopoulos G.

PLoS Genet. 2019 Aug 30;15(8):e1008344. doi: 10.1371/journal.pgen.1008344. eCollection 2019 Aug.

8.

Membrane-mediated fibrillation and toxicity of the tau hexapeptide PHF6.

Fanni AM, Vander Zanden CM, Majewska PV, Majewski J, Chi EY.

J Biol Chem. 2019 Oct 18;294(42):15304-15317. doi: 10.1074/jbc.RA119.010003. Epub 2019 Aug 22.

PMID:
31439664
9.

Anomalous origin of the right coronary artery from the left Valsalva sinus in a patient presenting with syncope, ventricular tachycardia, and electrocardiographic early repolarization pattern.

Majewski J, Shelton R, Varma M, Davis G.

Kardiol Pol. 2019 Sep 23;77(9):883-885. doi: 10.33963/KP.14909. Epub 2019 Jul 25. No abstract available.

10.

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 Sep;4(9):1516-1531. doi: 10.1038/s41564-019-0484-8. Epub 2019 Jul 8.

PMID:
31285585
11.

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.

12.

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
13.

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.

14.

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
15.

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
16.

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
17.

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
18.

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.

19.

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.

20.

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
21.

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
22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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
28.

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.

29.

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
30.

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
31.

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.

32.

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.

33.

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.

34.

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.

35.

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
36.

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
37.

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
38.

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.

39.

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
40.

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.

41.

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
42.

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
43.

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.

44.

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.

45.

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
46.

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
47.

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.

48.

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
49.

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.

50.

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.

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