GRANTS  

Asangla Ao 

September 2013-August 2018: CIHR, Operating. Identify New Genes for Recurrent Molar Pregnancies and Characterize Mechanisms of Mole Formation. A total of $709,705 (CO-PI)

January 2013-Decemebr 2015 : CIHR, operating. Nanoconfinement Based Single-Cell Cytogenetic Platform for Pre-/Post-Implantation Genetic Diagnosis $438.370 (CO-PI).

2012-2014: Saudi Arabia government scholarship for one graduate student; $203, 000 Simon Gravel

CIHR Operating Grant (PI Gravel) 09/01/2014{09/01/2018 ($289; 886, single applicant) Modelling recent genetic events in complex cohorts The major goal of this project is development of population genetic theory and statistical genomic approaches for modeling large medical cohorts that feature extensive

relatedness patterns and population structure.

DMS 1201234 (Subaward to Gravel) 09/01/2012{08/31/2016 National Science Foundation ($227; 565 subaward) Statistical Methods for Enabling Medical and Population Genomics of Ad-mixed Human Populations The major goal of this project is development of population genetic theory and statistical genomic approaches for modeling the demographic history of admixed human populations.

Celia Greenwood

Mar 2014 – Feb 2019. C Greenwood (PI). Finding important associations in genetic and genomic data. NSERC Discovery grant, $10,000/year.

Oct 2013 – Sept 2017. Ludmer Centre for Neuroinformatics and Mental Health. Co-Directors: M Meaney, A. Evans, C Greenwood. $ 3.3 million/year, $870,000 to JGH.

Oct 2013 – Sept 2017. C. Greenwood (PI), A. Labbe (co-PI), A. Ciampi, D. Stephens. Analysis of DNA methylation data. Canadian Institute of Health Research. $100, 537 per year.

Apr 2013 – Apr 2018. D. Daley (PI), C Greenwood, M. Kobor, A. Kozyrskyj, A. Labbe, C. Laprise, P. Pare, A. Sandford. Epigenetic mechanisms for the development of asthma.

CIHR Team Grant: Canadian Epigenetics, Environment, and Health Research Consortium (CEEHRC). $250,000 per year.

Sept 2012- Aug 2015. D. Bickel (PI), C. Greenwood. Statistical methods of detecting and estimating associations with uncommon genetic variants. CIHR Operating Grant, $113,000/year.

March 2012 –February 2015. B. Richards (PI), T Pastinen, C. Greenwood. Pinpointing causal variants for osteoporosis. CIHR Operating Grant, $816,608 over 4 years.

Danielle Malo

CIHR operating grant, 2014‐2019, $128,927.00/year, Danielle Malo (PI) Project Title: Functional characterization of new mouse models for susceptibility to Salmonella infection identified in a genome‐wide ENU mutagenesis screen

Jacek Majewski

Applications of Massively Parallel Sequencing in Cancer. We aim to identify germline variants underlying rare familiar cancers by sequencing affected individuals with familial cancers. We are also directly sequencing tumor DNA to find somatic mutations associated with the progression of the disease. This approach has recently resulted in identification of histone H3F3 mutants as the driver defects in pediatric glioblastoma (Schwartzentruber et al. 2012, Nature). We are also investigating aberrations at the epigenome level using ChIPSeq, and transcriptomic changes using RNASeq (e.g. Kleinman et al, Nat Gen 2014).

Current

Genome Canada 04/01/2013-03/30/2017 C4R – Diagnostics and Therapy for Rare Diseases Role: Co-applicant (Kym Boycott, PI) Total value: $11,500,000 Share: 15% Genome Canada 04/01/2013-03/30/2017 iChange – Pediatric Glioblastoma Consortium Role: Co-Leader (Nada Jabado, PI) Total value: $5,000,000 Share: 10% Canadian Institutes of Health Research (CIHR) 03/01/2013-02/28/2018 Models and Therapeutics for Pediatric Glioblastoma Role: Co-PI (Nada Jabado PI) Total Value: $750,000 Share: 15% Canadian Institutes of Health Research (CIHR) 10/01/2009-09/30/2014 Determinants of Alternative Splicing in Humans (Renewal) This study uses high throughput genomics and proteomics approaches to identify mechanisms and downstream phenotypic effects of alternative mRNA processing in humans. Role: PI Total Value: $590,000 Share: 100% Qatar National Research Fund 05/10/2012 – 05/09/2015 Genetics of Disease in Qatar Using next generation sequencing to identify genes underlying genetic disease in the population of Qatar. Role: PI Total Value: $1,050,000 Share: 100% MDEIE (Quebec) 04/01/2013-31/03/2016 Identification of new colorectal cancer susceptibility genes Role: Co-PI (William Foulkes PI) Total Value: $150,000 Share: 20% MESRST (Quebec) 04/01/2014 – 03/31/2017 Patrons de croissance des métastases hépatiques : de la biologie aux biomarqueurs Role: Co-PI (Pnina Brodt, PI) Total Value: $250,000 Share:20%

Fondation du cancer du sein du Québec 04/01-2015 -03/31/2019 Role: Co-PI (Will Foulkes, PI) Total Value: $ 600,000 Share: 15% Genome Quebec 10/01/2010-03/31/2015 The genomics and proteomics of drug resistant breast cancer. Role: Co-applicant (Mark Basik, PI) Total value: $2,170,000 Share: 5% Held in the Past

Genome Canada 06/01/2011-05/30/2014 IGNITE – Therapeautics for Rare Diseases Role: Co-applicant (Chris McMaster, PI) Total value: $4,000,000 Share: 2%

Pierre Moffat CIHR – Operating grant Mar-2014 $549,170 for 5y PI The Role of BRIL in the Pathogenesis of Osteogenesis Imperfecta Type V

Roberta Palmour

Grants as PI (granting agency, title, amount per annum) : Fidelity Foundation Non-human primate model of Alzheimer- type cognitive impairment $146,000 per annum

Grants as co-investigator (granting agency, title, amount annum) : CIHR, Effectiveness of a relational intervention in reducing violence and victimization in at-risk adolescent girls and boys (Marlene Moretti, PI) $239,000 per annum

Tomi Pastinen

Crohns’ and Colitis Foundation Canada (CCFC) Research Grant: “Use of high-tech sequencing platform to uncover new types of high-risk genetic risk factors in IBD” 2014-2018. Principal Investigator(s): PASTINEN, Tomi; LATHROP, Mark My role: Co-PI $375K

TEKES/Finland: “Individualized diagostics and care.: Subcontract for sequencing

non-coding variants in graft-vs.-host disease and IBD” 2014-2017 Principal Investigator(s): PASTINEN, Tomi (for subcontract) My role: PI €375K

Canadian Institutes of Health Research (CIHR) Team Grant: Advancing Research to Improve Boys’ and Men’s Health. “Father's lasting influence: Molecular foundations of intergenerational transmission of the paternal environment” 2014-2018. Principal Investigator(s): Multiple PIs, NPI Bailey My role: co-applicant $1.5M

Canadian Institutes of Health Research (CIHR) “Genomic risk in asthma susceptibility accessed by next-generation integrative tools” 2014-2018 Principal Investigator(s): LAPRISE, Catherine; PASTINEN, Tomi My role PI ($1,021,307 CDN)

Ioannis Ragoussis

Oxford – McGill Travel Award in Neurogentics (Applicant, GBP 4,000) Science and Technology Innovation Centre Support, Genome Canada . Co-applicant, 2013-2015,

CAD 9.8 million CFI Leaders Fund, Canada Foundation for Innovation (New Opportunities Fund), Sole Apllicant.

Total Funding: $1,000,000 2014/5 - 2016/5 Genome Innovation Centre Membership, Genome Canada, co-applicant, 2015-2017, CAD 2

million. Brent Richard

2014 Merck, Sharpe & Dohme/McGill Faculty of Medicine Grants for Translational Research. Role: Principal Investigator. An investigator-led, peer-reviewed grant. $42,500 over one year.

2014 Jody Ginsburg Young Investigator Award. Canadian Society of Endocrinology and Metabolism. $20,000 over one year for research program costs. (Also mentioned above in Awards section)

2013 – 2018 Canadian Institute of Health Research (CIHR), Canadian Epigenetics, Environment and Health Research Consortium: Full Resolution Metabolic Disease Epigenomics in Human Populations. Role: Co-investigator. PI: Mark Lathrop. $1.25M over 5 years. This grant ranked first within the competition. Funds received: $10,000 per annum.

2013-2015 GlaxoSmithKline. Genomics-Based Drug Repositioning. Role: Principle Investigator. An investigator-led, peer-reviewed grant. $88,333

2012 - 2016 Canadian Institutes of Health Research (CIHR): Pinpointing Causal Variants for Osteoporosis. Role: Nominated Principal Investigator. $204,152 per annum. This grant ranked first for the CIHR Genetics panel and led to receipt of the Maud-Menten Award above.

2011-2016 Canadian Institutes of Health Research (CIHR). Canadian Multicentre Osteoporosis Study. Role: Co-Applicant. $684,410 per annum. Funds received: $0.

Peter Roughley

AO Biological repair of the degenerate intervertebral disc (coPI) $105,000pa (2011-16) CIHR The role of hyaluronan in the growth and function of the skeletal system (coPI) $110,283pa

(2012-17)

Guy Rouleau

Montreal Neurological Institute, Medicine. Genetic & Biological Studies of Brain

Disorders $4,959,666

Rima Rosen 2001-present James McGill Professorship (equivalent to Canada Research Chair Tier I)

$25,000 Annual Operating and Salary Support 2011-2015 Fonds de la Recherche en Santé du Québec

(PI, Tommy. Nilsson, with J.Bergeron, P. Metrakos, B. Posner, R. Sladek and S.Vidal) Total funding $1.4M, Total to Rozen = $40,000 Title: Towards the systems medicine of fatty liver diseae

2011-2016 CIHR (Operating grant, PI)

$119,760 per year Title: Trifunctional folate-metabolizing enzyme MTHFD1: impact on birth defects and cancer

2014-2019 CIHR (Operating grant, PI) $191,037 Title: Methylenetetrahydrofolate reductase (MTHFR) and multifactorial diseases

Erwin Schurr

Research Institute of the McGill University Health Centre, Medicine. Host genetic dissection

of mycobacterial infection phenotypes $2,478,941

Eric Shoubridge

Grant #MT-15460 Shoubridge (PI) 2010-2015 CIHR; $181,000 annual direct costs Canadian Institutes of Health Research "Cloning and functional analysis of nuclear gene defects for respiratory chain disorders"

CIHR Operating grant Shoubridge (PI) (2014-2019) Canadian Institutes of Health Research “Posttranscriptional regulation of mitochondrial gene expression’. $126,500 annual direct costs

CIHR Emerging Team Grant C. Desrosiers (PI) Shoubridge (Co-PI) 2010—2015 CIHR; $500,000 annual direct costs (between 5 PIs) CIHR Team in Leigh Syndrome French Canadian Type (LSFC): Translating LSFC gene

discovery into treatments for patients. We are investigating the molecular basis of LRPPRC function in these patients.

CIHR Emerging Team Grant: Rare Diseases. B. Brais (PI) Shoubridge (Co-PI). 2012-2017. ($500,000 annual direct costs). Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies.

ARSACS Foundation. Shoubridge (PI). 2013-2015. Role of SACSIN in mitochondrial function. $94,000 total direct costs.

Rima Slim

2013-2018 CIHR, Operating. Identify New Genes for Recurrent Molar Pregnancies and Characterize Mechanisms of Mole Formation. A total of $709,705.

2013-2014 FRSQ, Programme d’échanges internationaux-collaboration avec la Chine, missions ponctuelles. A total of $22,000 (From FRSQ and NSFC). Project: Collaboration with China for the identification and analysis of recurrent molar pregnancies.

2013-2016 CIHR, Canada-China Joint Health Initiative, Identify new genes responsible for recurrent moles in China, $225,000.

2011-2014 CIHR Operating. NLRP7 in the Spectrum of Reproductive Wastage A total of $371,673.

Jacquetta Trasler

2013-2018 Canadian Institutes of Health Operating Grant (PI – J. Trasler)

Title: Sex-specific susceptibility for fetal origins of adult disease and transgenerational effects Amount awarded: $173,587/year (ranked #1 out of 29 grants submitted)

2014-2015 CIHR Catalyst Grant (PI- J. Bailey with J. Trasler, S. Kimmins, A. Droit) Title: Molecular underpinnings of how paternal exposure to environmentally-relevant organochlorines compromises health of future generations: A possible mechanism for health discrepancies between northern aboriginal and non-aboriginal Canadians Program: Environments, Genes and Chronic Disease Amount awarded: $100,000

2012-2017 Canadian Institutes of Health CEEHRC Epigenomics Platform Grant (PI- M.

Lathrop) Title: Multidimensional Epigenomics Mapping Centre (EMC) at McGill Amount awarded: $5,665,000

2011-2016 Canadian Institutes of Health Operating Grant (PI- J. Trasler)

Title: Mechanisms of regulation of gene expression in the mammalian germ line. Amount Awarded: $773,775 Ranked #1 out of 33 grants, Score 4.62

2009-2015 Canadian Institutes of Health Research (PI- J. Baltz)

Title: Training Programs in Reproduction, Early Development, and the Impact on Health (REDIH) Amount Awarded: $1,787,598

2009-2014 Canadian Institutes of Health Research (PI: J. Baltz and Co-PI: J. Trasler)

Title: Betaine-dependent methylation pathways in preimplantation embryos and their contribution to fetal, placental and offspring health. Amount Awarded: $797,686

2009-2014 RHF – 94615 (PI-C. Goodyer), Co-PI – B. Hales, P. Chan, B. Murphy, B.

Robaire, J. Trasler, et al Canadian Institute of Health Research - Team Grant Title: Effects of Brominated Flame Retardants (BFR) on Reproductive Health: Human, Ethical, Legal and Social Studies Amount Awarded: $2,495,000

2009-2014 NSERC (PI – B. Murphy, L.C. Smith, M.A. Fortier, D. Boerboom, B.

Robaire, J.M.Trasler, H.J. Clarke and E.Asselin). Program: Collaborative Research and Training Experience Application Title: Training in Reproductive Biology Amount Awarded: $1,650,000

2009-2015 CFI (PI – V. Papadopoulos, Trasler – Project Leader on 1 of 8 projects)

Translational Research and Intervention Across the Lifespan Program: Large Scale Institutional Endeavors – Research Hospital Fund Amount Awarded: $99,988,430

2008-2016 CIHR Regional/National Clinical Research Initiative

Title: The Integrated Research Network in Perinatology of Quebec (IRNPQ) W. Fraser (PI), J. Trasler directs ART Cohort Studies (one of four clinical projects) Amount awarded: $10,000,000 (Trasler receives $80,000/year)

2011-2016 FQRNT (PI – B. Murphy) Reseau Quebecois en Reproduction (Infrastructure support for trainees, conferences, workshops) Amount awarded: $1,750,000

2014-2021 James McGill Research Grant

Amount Awarded: $105,000

Silvia Vidal

Title of project Funding Source Amount/Year Years

Immunopathogenesis of inflammatory diseases: genetic, cellular and molecular pathways regulating acute and chronic inflammation. PI: Silvia Vidal, co-PI: P. Gros

CIHR Operating grant $150,960 2014-2019

Host genetic determinants of colon cancer metastasis. PI: Maya Saleh, co-PI: S. Vidal, N. Beauchemin, P. Siegel

Canadian Cancer Society Research Institute

$100,000 (Vidal portion $20,000)

2012-2014

Genetics of host susceptibility to virus infections PI: Silvia Vidal

Canada Research Chair Research Allowance

$ 50,000 2011-2018

Genetic Dissection of Airway Hyperresponsiveness and Susceptibility to Allergic Asthma PI: Danuta Radzioch, co-PI: S. Vidal

CIHR operating grant $ 142,633 2010-2015

Genetics of natural killer cell response to virus infection PI: Silvia Vidal

CIHR operating grant $179,083 2010-2015

CIHR Training Program in Integrative Approaches to Human Health. PI: Michael Hallet (12 co-PIs)

CIHR Training Program

$488,619 2009-2015

Yojiro Yamanaka

CIHR Operating Grant CIHR MOP 111197 Role: PI $148,909 x 5 years 01/04/2011-

30/03/2016 Cell polarity and generation of the first distinct lineages in the mouse embryo The goal of this study is understanding of molecular and cellular mechanisms of cell polarization

and subsequent lineage specification in the mouse embryo.

(My proposal was ranked 1st out of 43 proposals in the Developmental Biology committee of 2010Fall CIHR Operating Grant competition.)

 

PUBLICATIONS/CHAPTERS/ARTICLES  Asangla Ao

Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R. Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. J Med Genet. 2014 Sep;51(9):623-34. doi: 10.1136/jmedgenet-2014-102546. Epub 2014 Aug 5. PubMed PMID: 25097207.

Simon Gravel

G. H. Perry et al., Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter gatherers, PNAS, 111: E3596 (2014)

S. Gravel, Non-parametric estimation of the number of genomic features, Genetics, 197: 601(2014)

E. Patin et al., Assessing the impact of the emergence of agriculture on the genomes of African pygmies and agriculturalists, Nature Communications, 5:

3163 (2014) Celia Greenwood

A Haghighi, MG Melka, M Bernard, M Abrahamowicz, GT Leonard, L Richer, M Perron, S Veillette, CJ Xu, CMT Greenwood, A Dias, A El-Sohemy, D Gaudet, T Paus and Z Pausova (2014). Opioid receptor mu 1 gene, fat intake and obesity in adolescence. Mol Psychiatry 19(1):63-8; doi: 10.1038/mp.2012.179.

L Dufresne, K Oualkacha, V Forgetta, CMT Greenwood. (2014). Pathway Analysis, To Do or Not To Do? That is the question. In Genetic Analysis Workshop 18. BMC Proceedings. 8(1):S103. doi: 10.1186/1753-6561-8-S1-S103. (NSERC).

Cotterchio M, Lowcock E, Hudson T, Greenwood CMT, Gallinger S. (2014) Association between allergies and risk of pancreatic cancer. Journal of Cancer Epidemiology, Biomarkers and Prevention. 23(3): 469-480.

R Lui, A Montpetit, M Rousseau, SYM Wu, CMT Greenwood, TD Spector, M Pollak, C Polychronakos, JB Richards. (2014) Somatic Mutations Occurring in Early Development: A Monozygotic Twin Study. Journal of Medical Genetics. 51(1):28-34. doi: 10.1136/jmedgenet-2013-101712.

C Xu, I Tachmazidou, UK10K Consortium, A, E Zeggini, CMT Greenwood. (2014) Estimating genome-wide significance for whole genome sequencing studies. Genetic Epidemiology doi: 10.1002/gepi.21797.

C Xu, A Ciampi, CMT Greenwood, the UK10K Consortium. (2014) Exploring the potential benefits of stratified false discovery rates for region based testing of association with rare genetic variation. Frontiers in Genetics: Statistical Genetics and Methodology (5):11. doi: 10.3389/fgene.2014.00011.

KM Burkett, B McNeney, J Graham, CMT Greenwood (2014). Using gene genealogies to detect rare variants associated with complex traits. Human Heredity, 2014; 78:117-130.

E Przybytkowski, E Lenkiewicz, MT Barrett, K Klein, CMT Greenwood, M Basik. (2014). Chromosome-breakage genomic instability and chromothripsis in breast cancer. BMC Genomics, 15(1):579. doi:10.1186/1471-2164-15-579.

JP Fortin, A Labbe, M Lemire, BW Zanke, TJ Hudson, EJ Fertig, CMT Greenwood, KD Hansen. (2014). Functional normalization of 450K methylation array data improves replication in large cancer studies. Genome Biology, 15(11):503. doi: 10.1186/s13059-014-0503-2.

A Leong, D Goltzman, D Hanley, W Rehman, Z Dastani, CMT Greenwood, N. Timpson, L. Langsetmo, C. Berger, S. Malik, D. Cole (2014). The causal effect of vitamin D binding protein levels on calcemic and cardiometabolic diseases: A Mendelian randomization study. PLoS Medicine 11(10) e1001751.

Nada Jabado

Zhukova N, Ramaswamy V, Remke M, Martin DC, Castelo-Branco P, Zhang CH, Fraser M, Tse K, Poon R, Shih DJH, Baskin B, Ray PN, Bouffet E, Dirks P, von Bueren AO, Pfaff E, Korshunov A, Jones DTW, Northcott PA, Kool M, Pugh TJ, Pomeroy SL, Cho Y-J, Pietsch T, Gessi M,

Rutkowski S, Bognár L, Cho B-K,

Eberhart CG, Conter CF, Fouladi M, French PJ, Grajkowska WA, Gupta N, Hauser P, Jabado N, Vasiljevic A, Jung S, Kim S-K, Klekner A, Kumabe T, Lach B, Leonard JR, Liau LM, Massimi L, Pollack IF, Ra YS, Rubin JB, Van Meir EG, Wang K-C, Weiss WA, Zitterbart K, Bristow RG, Alman B, Hawkins CE, Malkin D, Clifford SC, Pfister SM, Taylor MD

and Tabori U (2014). WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma. Acta Neuropathol Commun 2(174): 10.1186/s40478-014-0174-y.

Mangerel J, Price A, Castelo-Branco P, Brzezinski J, Buczkowicz P, Rakopoulos P, Merino D, Baskin B, Wasserman J, Mistry M, Barszczyk M, Picard D, Mack S, Remke M, Starkman H, Elizabeth C, Zhang C, Alon N, Lees J, Andruilis I, Wunder J, Jabado N, Johnston D, Rutka J, Dirks P, Bouffet E, Taylor M, Huang A, Malkin D, Hawkins C and Tabori U. Alterna (2014). Alternative lengthening of telomeres is enriched in, and impacts survival of TP53 mutant pediatric malignant brain tumors. Acta Neuropathol 128(6): 853-862. ISI 9.777.

Kracker S, Di Virgilio M, Schwartzentruber J, Cuenin C, Forveille M, Deau MC, McBride KM, Majewski J, Gazumyan A, Seneviratne S, Grimbacher B, Kutukculer N, Herceg Z, Cavazzana Calvo M, Jabado N, Nussenzweig MC, Fischer A and Durandy A (2015). An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex. J Allergy Clin Immunol 135(4):998-1007. ISI 11.248

Bechet D, Gielen, GH, Korshunov A, Pfister SM, Rousso C, Faury D, Fiset PO, Benlimane N, Kimura H, Lewis PW, Lu C, Allis D, Kieran MW, Ligon K, Pietsch T, Ellezam B, Albrecht S and Jabado N (2014). Specific detection of methionine 27 mutation in histone 3 variants (H3K27M) in fixed tissue from high-grade astrocytoma. Acta Neuropathol 128(5): 733-741. ISI 9.777

Fontebasso A M, Gayden T, Nikbakht H, Neirinck M, Papillon-Cavanagh S, Majewski J and Jabado N (2014). Epigenetic dysregulation: a novel pathway of oncogenesis in pediatric brain tumors. Acta Neuropathol 128(5): 615-627. ISI 9.777

Fernandez C V, Bouffet E, Malkin D, Jabado N, O'Connell C, Avard D, Knoppers B M, Ferguson M, Boycott K M, Sorensen P H, Orr A C, Robitaille J M and McMaster C R (2014). Attitudes of parents toward the return of targeted and incidental genomic research findings in children. Genet Med 16(8): 633-640. ISI 6.435

Kool M, Jones D T, Jager N, Northcott P A, Pugh T J, Hovestadt V, Piro R M, Esparza L A, Markant S L, Remke M, Milde T, Bourdeaut F, Ryzhova M, Sturm D, Pfaff E, Stark S, Hutter S, Seker-Cin H, Johann P, Bender S, Schmidt C, Rausch T, Shih D, Reimand J, Sieber L, Wittmann A, Linke L, Witt H, Weber U D, Zapatka M, Konig R, Beroukhim R, Bergthold G, van Sluis P, Volckmann R, Koster J, Versteeg R, Schmidt S, Wolf S, Lawerenz C, Bartholomae C C, von Kalle C, Unterberg A, Herold-Mende C, Hofer S, Kulozik A E, von Deimling A, Scheurlen W, Felsberg J, Reifenberger G, Hasselblatt M, Crawford J R, Grant G A, Jabado N, Perry A, Cowdrey C, Croul S, Zadeh G, Korbel J O, Doz F, Delattre O, Bader G D, McCabe M G, Collins V P, Kieran M W, Cho Y J, Pomeroy S L, Witt O, Brors B, Taylor M D, Schuller U, Korshunov A, Eils R, Wechsler-Reya R J, Lichter P and Pfister S M (2014). Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25(3): 393-405. ISI 23.893

Mack S C, Witt H, Piro R M, Gu L, Zuyderduyn S, Stutz A M, Wang X, Gallo M, Garzia L, Zayne K, Zhang X, Ramaswamy V, Jager N, Jones D T, Sill M, Pugh T J, Ryzhova M, Wani K M, Shih D J, Head R, Remke M, Bailey S D, Zichner T, Faria C C, Barszczyk M, Stark S, Seker-Cin H, Hutter S, Johann P, Bender S, Hovestadt V, Tzaridis T, Dubuc A M, Northcott P A, Peacock J, Bertrand K C, Agnihotri S, Cavalli F M, Clarke I, Nethery-Brokx K, Creasy C L, Verma S K, Koster J, Wu X, Yao Y, Milde T, Sin-Chan P, Zuccaro J, Lau L, Pereira S, Castelo-Branco P, Hirst M, Marra M A, Roberts S S, Fults D, Massimi L, Cho Y J, Van Meter T, Grajkowska W, Lach B, Kulozik A E, von Deimling A, Witt O, Scherer S W, Fan X, Muraszko K M, Kool M, Pomeroy S L, Gupta N, Phillips J, Huang A, Tabori U, Hawkins C, Malkin D, Kongkham P N, Weiss W A, Jabado N, Rutka J T, Bouffet E, Korbel J O, Lupien M, Aldape K D, Bader G D, Eils R, Lichter P, Dirks P B, Pfister S M, Korshunov A and Taylor M D (2014). Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature 506(7489): 445-450. ISI 42.351

Magnus N, Garnier D, Meehan B, McGraw S, Lee T H, Caron M, Bourque G, Milsom C, Jabado N, Trasler J, Pawlinski R, Mackman N and Rak J (2014). Tissue factor expression provokes escape from tumor dormancy and leads to genomic alterations. Proc Natl Acad Sci USA 111(9): 3544-3549. ISI 9.809

Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschke P, Esposti M D, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn R F, Picard C, Fischer A, Arkwright P D and Latour S (2014). CTP synthase 1 deficiency in humans reveals its central role

in lymphocyte proliferation. Nature 510(7504): 288-292. ISI 42.351 Shih D J, Northcott P A, Remke M, Korshunov A, Ramaswamy V, Kool M, Luu B, Yao Y, Wang

X, Dubuc A M, Garzia L, Peacock J, Mack S C, Wu X, Rolider A, Morrissy A S, Cavalli F M, Jones D T, Zitterbart K, Faria C C, Schuller U, Kren L, Kumabe T, Tominaga T, Shin Ra Y, Garami M, Hauser P, Chan J A, Robinson S, Bognar L, Klekner A, Saad A G, Liau L M, Albrecht S, Fontebasso A M, Cinalli G, De Antonellis P, Zollo M, Cooper M K, Thompson R C, Bailey S, Lindsey J C, Di Rocco C, Massimi L, Michiels E M, Scherer S W, Phillips J J, Gupta N, Fan X, Muraszko K M, Vibhakar R, Eberhart C G, Fouladi M, Lach B, Jung S, Wechsler-Reya R J, Fevre-Montange M, Jouvet A, Jabado N, Pollack I F, Weiss W A, Lee J Y, Cho B K, Kim S K, Wang K C, Leonard J R, Rubin J B, de Torres C, Lavarino C, Mora J, Cho Y J, Tabori U, Olson J M, Gajjar A, Packer R J, Rutkowski S, Pomeroy S L, French P J, Kloosterhof N K, Kros J M, Van Meir E G, Clifford S C, Bourdeaut F, Delattre O, Doz F F, Hawkins C E, Malkin D, Grajkowska W A, Perek-Polnik M, Bouffet E, Rutka J T, Pfister S M and Taylor M D (2014). Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol 32(9): 886-896. ISI 17.879

Sturm D, Bender S, Jones D T, Lichter P, Grill J, Becher O, Hawkins C, Majewski J, Jones C, Costello J F, Iavarone A, Aldape K, Brennan C W, Jabado N* and Pfister S M (2014). Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge. Nat Rev Cancer 14(2): 92-107. ISI 37.912

Yann Joly Book

Joly Y & Knoppers BM, Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014).

Book Chapters

Dalpé G & Joly Y, “Towards precision medicine: the legal and ethical challenges of pharmacogenomics” in Joly Y & Knoppers BM (eds) Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014), 339.

Joly Y, Kim R, Salman S & Ngueng Feze I, “The use of Genetic Information Outside of the Therapeutic Health Relationship: An International Perspective”, in Quinn G, De Paor A, Blanck P (eds) Genetic Discrimination Transatlantic Perspectives on the Case for a European Level Legal Response (Oxford: Routledge, 2014), 68-95.

Rahimzadeh V, Joly Y & Knoppers BM, “Introduction” in Joly Y & Knoppers BM (eds) Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014), 1.

Articles

Dalpé G & Joly Y, “Opportunities and Challenges Provided by Cloud Repositories for Bioinformatics-Enabled Drug Discovery” (2014) 75:6 Drug Development Research, 393.

Dove ES, Joly Y, Tassé AM, P3 G International Steering Committee, ICGC Ethics and Policy Committee & Knoppers BM, “Genomic cloud computing: legal and ethical points to consider” (2014) European Journal of Human Genetics, doi:10.1038/ejhg.2014.196, 1.

Dove ES, Joly Y, Tassé AM, P3 G International Steering Committee, ICGC Ethics and Policy Committee & Knoppers BM, “What Are Some of the ELSI Challenges of International Collaborations Involving Biobanks, Global Sample Collection, and Genomic Data Sharing and How Should They Be Addressed?” (2014) 12:6 Biopreservation and Biobanking, 363.

Joly Y, “Au gré des vents et marées, l’évolution de l’éthique de la recherche au Québec” (2014) 53 Revue générale de droit médical, 31-33.

Joly Y, Burton H, Knoppers BM, Ngueng Feze I, Dent T, Pashayan N, Chowdhury S, Foulkes W, Hall A, Hamet P, Kirwan N, Macdonald A, Simard J & Van Hoyweghen V, “Life Insurance: Genomic Stratification and Risk Classification” (2014) 22:5 European Journal of Human Genetics, 575.

Joly Y & Knoppers BM, “Médecine personnalisée : équité et accès” (2014) 30:2 Medecine/sciences, 27.

Joly Y, Saulnier KM, Osien G & Knoppers BM, “The ethical framing of personalized medicine” (2014) 14:5 Current Opinion in Allergy and Clinical Immunology, 404.

Joly Y & Tonin PN, “Social, Ethical and Legal Considerations Raised by the Discovery and Patenting of the BRCA1 and BRCA2 genes” (2014) 33:2 New Genetics and Society, 167.

Lévesque M, Kim JR, Isasi R, Knoppers BM, Plomer A & Joly Y, “Stem Cell Research Funding Policies and Dynamic Innovation: A Survey of Open Access and Commercialization Requirements” (2014) 10:4 Stem Cell Reviews and Reports, 455.

Milius D, Dove ES, Chalmers D, Dyke SOM, Kato K, Nicolás P, Ouellette BFF, Ozenberger B, Rodriguez LL, Zeps N & Joly Y, “The International Cancer Genome Consortium’s Evolving Data-Protection Policies” (2014) 32:6 Nature Biotechnology, 519.

Ngueng Feze I & Joly Y, “Can’t Always Get What you Want? Try an Indirect Route you Just Might Get What you Need: A Study on Access to Genetic Data by Canadian Life Insurers” (2014) 12:1 Current Pharmacogenomics and Personalized Medicine, 56.

Ngueng Feze I, Prystajecky N, Cook C, Knoppers BM, Özdemir V, Dunn G, Isaac-Renton J & Joly Y, “The regulation of water quality assessment biotechnologies: Is Canada ready to surf the next wave?” (2014) 26:3 Journal of Environmental Law and Practice, 201.

Nicholls SG, Joly Y, Moher E & Little J, “Genetic discrimination and insurance in Canada: Where are we now?” (2014) 30:3 On the Risk, 46.

Nicholls SG, Joly Y, Moher E & Little J, “Genetic discrimination and insurance in Canada: Where are we now?” (2014) 30:3 On the Risk, 46.

Ogbogu U, Burningham S, Ollenberger A, Calder K, Du L, El Emam K, Hyde-Lay R, Isasi R, Joly Y, Kerr I, Malin B, McDonald M, Penney S, Piat G, Roy DC, Sugarman J, Vercauteren S, Verhenneman G, West L & Caulfield T, “Policy Recommendations for Addressing Privacy Challenges Associated with Cell-Based Research and Interventions” (2014) 15:7 BMC Medical Ethics, doi:10.1186/1472-6939-15-7, 1.

Ragoussis V, Ngueng Feze I & Joly Y, “Sharing Genetic Information Online: An Exploration of GINA’s 2.0 Frontier” (2014) 14:11 The American Journal of Bioethics, 53.

Claudia Kleinman

CL Kleinman et al. “Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B in the embryonal brain tumour ETMR”, Nature Genetics 46:39-44 (2014).

This article has been highlighted in the News and Views Nature Genetics 46:2-3 (2014) Bartha Knoppers Book

Joly Y & Knoppers BM, Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014).

Book Chapters

Knoppers BM & Özdemir V, “The Concept of Humanity and Biogenetics” in Humanity Across International Law and Biolaw (Cambridge: Cambridge University Press, 2014), 223.

Rahimzadeh V, Joly Y & Knoppers BM, “Introduction” in Joly Y & Knoppers BM (eds) Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014), 1.

Thorogood A & Knoppers BM, “The ethical and legal duties of physicians in clinical genetics and genomics” in Joly Y & Knoppers BM (eds) Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014), 319.

Articles

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers BM, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJM, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW & FORGE Canada Consortium et al., “FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project” (2014) 94:6 The American Journal of Human Genetics, 809.

Boccia S, McKee M, Adany R, Boffetta P, Burton H, Cambon-Thomsen A, Cornel MC, Gray M, Jani A, Knoppers BM, Khoury MJ, Meslin EM, Van Duijn CM, Villari P, Zimmern R, Cesario A, Puggina A, Colotto M & Ricciardi W, “Beyond public health genomics: proposals from an international working group” (2014) 24:6 European Journal of Public Health, 877.

Borry P, Rusu O, Dondorp W, DeWert G, Knoppers BM & Howard H, “Anonymity 2.0. Direct-to-Consumer Genetic Testing and Donor Conception” (2014) 101:3 Fertility and Sterility, 630.

Brownstein CA, Beggs AH, Homer N et al. (including Knoppers BM), “An International Effort Towards Developing Standards for Best Practices in Analysis, Interpretation and Reporting of Clinical Genome Sequencing Results in the CLARITY Challenge” (2014) 15:3 Genome Biology, 1.

Budin-Ljøsne I, Isaeva J, Knoppers BM, Tassé AM, Shen H-Y, McCarthy MI & ENGAGE Consortium and Harris JR, “Data Sharing in Large Research Consortia: Experiences and Recommendations from ENGAGE” (2014) 22:3 European Journal of Human Genetics, 317.

Caulfield T, Burningham S, Joly Y, Master Z, Shabani M, Borry P, Becker A, Burgess M, Calder K, Critchley C, Edwards K, Fullerton SM, Gottweis H, Hyde-Lay R, Illes J, Isasi R, Kato K, Kaye J, Knoppers BM, Lynch J, McGuire A, Meslin E & Zawati MH, “A review of the Key Issues Associated with the Commercialization of Biobanks” (2014) 1:1 Journal of Law and the Biosciences, 94.

Dove ES, Joly Y, Tassé AM, P3 G International Steering Committee, ICGC Ethics and Policy Committee & Knoppers BM, “Genomic cloud computing: legal and ethical points to consider” (2014) European Journal of Human Genetics, doi:10.1038/ejhg.2014.196, 1.

Dove ES, Joly Y, Tassé AM, P3 G International Steering Committee, ICGC Ethics and Policy Committee & Knoppers BM, “What Are Some of the ELSI Challenges of International Collaborations Involving Biobanks, Global Sample Collection, and Genomic Data Sharing and How Should They Be Addressed?” (2014) 12:6 Biopreservation and Biobanking, 363.

Dove ES, Knoppers BM & Zawati MH, “Towards an Ethics Safe Harbor for Global Biomedical Research” (2014) 1:1 Journal of Law and the Biosciences, 3. Dove ES & Özdemir V, “Glocal Bioethics: When International IRB Collaboration Confronts Local Politics” (2014) 14:5 American Journal of Bioethics, 20.

Dove ES, Townend D & Knoppers BM, “Data Protection and Consent to Biomedical Research: A Step Forward?” (2014) 384:9946 The Lancet, 855.

Fernandez CV, Bouffet E, Malkin D, Jabado N, O’Connell C, Avard D, Knoppers BM, Ferguson M, Boycott K, Sorensen PH, Orr AC & McMaster C, “Attitudes of Parents to the Return of Targeted and Incidental Genomic Research Findings in Children” (2014) 16:8 Genetics in Medicine, 633.

Graham CE, Molster C, Baynam GS, Bushby K, Hansson M, Kole A, Mora M, Monaco L, Bellgard M, Carpentieri D, Posada M, Riess O, Rubinstein YR, Schaefer F, Taruscio D, Terry SF, Zatloukal K, Knoppers BM, Lochmuller H & Dawkins HJS, “Current trends in biobanking for rare diseases: a review” (2014) 2 Journal of Biorepository Science for Applied Medicine, 49.

Henderson GE, Wolf SM, Kuczynski KJ, Joffe S, Sharp RR, Williams Parsons D, Knoppers BM, Yu J-H & Appelbaum PS, “The challenge of informed consent and return of results in translational genomics: Empirical analysis and recommendations” (2014) 42:3 Journal of Law, Medicine & Ethics, 344.

Isasi R, Andrews PW, Baltz JM, Bredenoord AL, Burton P, Chiu I-M, Hull SC, Jung J-W, Kurtz A, Lomax G, Ludwig T, McDonald M, Morris C, Ng HH, Rooke H, Sharma A, Stacey GN, Williams C, Zeng F & Knoppers BM, “Identifiability and Privacy in Pluripotent Stem Cell Research” (2014) 14:4 Cell Stem Cell, 427.

Joly Y, Burton H, Knoppers BM, Ngueng Feze I, Dent T, Pashayan N, Chowdhury S, Foulkes W, Hall A, Hamet P, Kirwan N, Macdonald A, Simard J & Van Hoyweghen V, “Life Insurance: Genomic Stratification and Risk Classification” (2014) 22:5 European Journal of Human Genetics, 575.

Joly Y & Knoppers BM, “Médecine personnalisée : équité et accès” (2014) 30:2 Medecine/sciences, 27.

Joly Y, Saulnier KM, Osien G & Knoppers BM, “The ethical framing of personalized medicine” (2014) 14:5 Current Opinion in Allergy and Clinical Immunology, 404.

Kleiderman E, Knoppers BM, Fernandez CV, Boycott KM, Ouellette G, Wong-Rieger D, Adam S, Richer J & Avard D, “Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases” (2014) 40:10 Journal of Medical Ethics, 665.

Knoppers BM, “Framework for responsible sharing of genomic and health-related data” (2014) 8:1 The HUGO Journal, 1.

Knoppers BM, “International Ethics Harmonization and the Global Alliance for Genomics and Health” (2014) 6:13 Genome Medicine, doi:10.11186/gm530, 1.

Knoppers BM, “Introduction: From the Right to Know to the Right Not to Know” (2014) 42:1 Journal of Law, Medicine and Ethics, 6.

Knoppers BM, Avard D, Sénécal K, Zawati MH & P3G International Paediatrics Platform Members, “Return of Whole-Genome Sequencing Results in Paediatric Research: A Statement of the P3 G International Paediatrics Platform” (2014) 22:1

European Journal of Human Genetics, 3. Knoppers BM, Harris JR, Budin-Ljøsne I & Dove ES, “A Human Rights Approach to an International Code of Conduct for Genomic and Clinical Data Sharing” (2014) 133:7 Human Genetics, 895.

Knoppers BM, Sénécal K, Borry P & Avard D, “Whole Genome Sequencing in Newborn Screening Programmes?” (2014) 6:229 Science Translational Medicine, 1. Knoppers BM, Zawati MH & Cohen E, “Special Issue - From Biobanks to the Clinic” (2014) 3:2 Applied & Translational Genomics, 21.

Kosseim P, Dove ES, Baggaley C, Meslin EM, Cate FH, Kaye J, Harris JR & Knoppers BM, “Building a Data Sharing Model for Global Genomic Research” (2014) 15:8 Genome Biology, 1.

Lévesque M, Kim JR, Isasi R, Knoppers BM, Plomer A & Joly Y, “Stem Cell Research Funding Policies and Dynamic Innovation: A Survey of Open Access and Commercialization Requirements” (2014) 10:4 Stem Cell Reviews and Reports, 455.

Lévesque E & Knoppers BM, “Management Strategies for Ethics in International Research” (2014) 2 Current Genetic Medicine Reports, 255.

MacLeod SM, Knoppert DC, Stanton-Jean M & Avard D, “Pediatric Clinical Drug Trials in Low-Income Countries: Key Ethical Issues” (2014) Pediatr Drugs, doi:10.1007/s40272-014-0103-3.

Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJS, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM & Hansson M, “International Charter of principles for sharing bio-specimens and data” (2014) European Journal of Human Genetics, doi:10.1038/ejhg.2014.197, 1.

McGuire AL, Knoppers BM, Zawati MH & Clayton EW, “Can I be Sued for that? Liability Risk and the Disclosure of Clinically Significant Genetic Research Findings” (2014) 24:5 Genome Research, 719.

Ngueng Feze I, Prystajecky N, Cook C, Knoppers BM, Özdemir V, Dunn G, Isaac-Renton J & Joly Y, “The regulation of water quality assessment biotechnologies: Is Canada ready to surf the next wave?” (2014) 26:3 Journal of Environmental Law and Practice, 201.

Rahimzadeh V, Avard D, Sénécal K, Knoppers BM & Sinnett D, “To disclose, or not to disclose? Context matters” (2014) European Journal of Human Genetics, doi:10.1038/ejhg.2014.108.

Strom BL, Buyse M, Hughes J & Knoppers BM, “Data Sharing, Year 1 – Access to Data from Industry-Sponsored Clinical Trials” (2014) The New England Journal of Medicine, doi:10.1056/NEJMp1411794, 1.

Thorogood A, Zawati MH & Knoppers BM, “Point-of-Care Genetic Tests for Infectious Disease: Legal Considerations” (2014) 12:1 Current Pharmacogenomics and Personalized Medicine, 43. Zawati MH, “There Will Be Sharing: Population Biobanks, the Duty to Inform and the Limitations of the Individualistic Conception of Autonomy” (2014) 21 Health Law Journal, 97.

Zawati MH, Parry D& Knoppers BM, “The best interests of the child and the return of results in genetic research: international comparative perspectives” (2014) 15:72 BMC Medical Ethics, 1.

Zawati MH, Parry D & Knoppers BM, “The best interests of the child and the return of results in genetic research: international comparative perspectives” (2014) 15:72 BMC Medical Ethics, 1.

Zawati MH, Parry D, Thorogood A, Nguyen MT, Boycott K, Rosenblatt D & Knoppers BM, “Reporting Results from Whole-Genome and Whole-Exome Sequencing in Clinical Practice: A Proposal for Canada?” (2014) 51:1 Journal of Medical Genetics, 68.

Jacek Majewski

Brue T, Quentien M, Khetchoumian K, Bensa M, Capo-Chichi J, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon P, Takayasu S, Enjalbert A, Van Vliet G, Majewski J, Drouin J, Samuels ME. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet. 2014 Dec 19;15(1):139

Torre S, Faucher SP, Fodil-Cornu N, Bongfen SE, Berghout J, Schwartzentruber JA, Majewski J, Lathrop M, Cooper AM, Vidal SM, Gros P. THEMIS is Required for Pathogenesis of Cerebral Malaria and for Protection Against Pulmonary Tuberculosis. Infect Immun. 2014 Dec 1. pii: IAI.02586-14.

Kennedy JM, Fodil N, Torre S, Bongfen SE, Olivier JF, Leung V, Langlais D, Meunier C, Berghout J, Langat P, Schwartzentruber J, Majewski J, Lathrop M, Vidal SM, Gros P. CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation. J Exp Med. 2014 Nov 17. pii: jem.20140455.

Smith A, Bulman DE, Goldsmith C, Bareke E, Majewski J, Boycott KM, Nikkel SM. Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. Eur J Hum Genet. 2014 Nov 5. doi: 10.1038/ejhg.2014.236.

Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, Greer W, Samuels ME, Orr A, Fernandez CV, Majewski J, Ludman M, Dyack S, Penney LS, McMaster CR, Huntsman D, Bedard K. Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer. PLoS Genet. 2014 Oct 23;10(10):e1004669.

McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL, Consortium FC, Majewski J, Boycott KM, Geraghty MT. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. J Child Neurol. 2014 Oct 20. pii: 0883073814553272.

Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL; FORGE Canada Consortium, Bulman DE, Majewski J, Woulfe J, Michaud J, Boycott KM. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. Neurobiol Aging. 2014 Sep 6. pii: S0197-4580.

Kracker S, Di Virgilio M, Schwartzentruber J, Cuenin C, Forveille M, Deau MC, McBride KM, Majewski J, Gazumyan A, Seneviratne S, Grimbacher B, Kutukculer N, Herceg Z, Cavazzana M, Jabado N, Nussenzweig MC, Fischer A, Durandy A An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex. J Allergy Clin Immunol. 2014 Oct 10. pii: S0091-6749.

Nadaf J *, Majewski J, Fahiminiya S. ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data. Bioinformatics. 2014 Oct 8. pii: btu665.

Joseph JT, Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM; FORGE Canada Consortium. Neuropathologic features of pontocerebellar hypoplasia type 6. J Neuropathol Exp Neurol. 2014 Nov;73(11):1009-25.

Fahiminiya S *, Al-Jallad H, Majewski J, Palomo T, Moffatt P, Roschger P, Klaushofer K, Glorieux FH, Rauch F. A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. Hum Mol Genet. 2014 Sep 11. pii: ddu471.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R. Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. PLoS One. 2014 Sep 11;9(9):e107326.

Schwartzentruber J *, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffaut I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Hum Mutat. 2014 Nov;35(11):1285-9.

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations. JAMA Ophthalmol. 2014 Aug 14.

Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014 Aug 7;95(2):227-34.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Nat Commun. 2014 Jul 22;5:4483.

Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet. 2014 Jul 21.

Gos M *, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. Am J Med Genet A. 2014 Sep;164A(9):2310-6.

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep. 2014 Jul;15(7):766-74.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet. 2014 Jun 5;94(6):809-17.

Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA; FORGE Canada Consortium, Majewski J, Bulman D, Boycott KM, Dyment DA. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia. 2014 Jul;55(7):e75-9.

Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature. 2014 Jun 12;510(7504):288-92.

Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, Albrecht S, McCluggage WG. No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol. 2014 Jul;233(3):209-14.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. J Med Genet. 2014 Jul;51(7):470-4.

Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May;46(5):510-5.

Fontebasso AM, Papillon-Cavanagh S *, Schwartzentruber J, Nikbakht H, Gerges N, Fiset PO, Bechet D, Faury D, De Jay N, Ramkissoon LA, Corcoran A, Jones DT, Sturm D, Johann P, Tomita T, Goldman S, Nagib M, Bendel A, Goumnerova L, Bowers DC, Leonard JR, Rubin JB, Alden T, Browd S, Geyer JR, Leary S, Jallo G, Cohen K, Gupta N, Prados MD, Carret AS, Ellezam B, Crevier L, Klekner A, Bognar L, Hauser P, Garami M, Myseros J, Dong Z, Siegel PM, Malkin H, Ligon AH, Albrecht S, Pfister SM, Ligon KL, Majewski J, Jabado N, Kieran MW. Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. Nat Genet. 2014 May;46(5):462-6.

Gavino C, Cotter A, Lichtenstein D, Lejtenyi D, Fortin C, Legault C, Alirezaie N, Majewski J, Sheppard DC, Behr MA, Foulkes WD, Vinh DC. CARD9 Deficiency and Spontaneous Central Nervous System Candidiasis: Complete Clinical Remission With GM-CSF Therapy. Clin Infect Dis. 2014 May 9.

McMillan HJ, Schwartzentruber J, Smith A, Lee S, Chakraborty P, Bulman DE, Beaulieu CL, Majewski J, Boycott KM, Geraghty MT. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. BMC Med Genet. 2014 Mar 26;15:36.

Brownstein CA, Beggs AH, … 98 others… Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53.

Witkowski L, Carrot-Zhang J *, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet. 2014 May;46(5):438-43.

Fahiminiya S *, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F. Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics. J Bone Miner Res. 2014 Aug;29(8):1805-14

Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE Canada Consortium, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle Nerve. 2014 Nov;50(5):775-9.

McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM. The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. BMC Neurol. 2014 Jan 31;14:22.

Kleinman CL*, Gerges N, Papillon-Cavanagh S, Sin-Chan P, Pramatarova A, Quang DA, Adoue V, Busche S, Caron M, Djambazian H, Bemmo A, Fontebasso AM, Spence T, Schwartzentruber J, Albrecht S, Hauser P, Garami M, Klekner A, Bognar L, Montes JL, Staffa A, Montpetit A, Berube P, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel PM, Duchaine T, Perotti C, Fleming A, Faury D, Remke M, Gallo M, Dirks P, Taylor MD, Sladek R, Pastinen T, Chan JA, Huang A, Majewski J, Jabado N. Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. Nat Genet. 2014 Jan;46(1):39-44.

Eva MM, Yuki KE, Dauphinee SM, Schwartzentruber JA, Pyzik M, Paquet M, Lathrop M, Majewski J, Vidal SM, Malo D. Altered IFN-γ-Mediated Immunity and Transcriptional Expression Patterns in N-Ethyl-N-Nitrosourea-Induced STAT4 Mutants Confer Susceptibility to Acute Typhoid-like Disease. J Immunol. 2014 Jan 1;192(1):259-70.

Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS. Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2014 Jan 2;94(1):73-9.

Reviews (peer reviewed)

Fontebasso AM, Gayden T, Nikbakht H, Neirinck M, Papillon-Cavanagh S, Majewski J, Jabado N. Epigenetic dysregulation: a novel pathway of oncogenesis in pediatric brain tumors. Acta Neuropathol. 2014 Nov;128(5):615-27. Sturm D, Bender S, Jones DT, Lichter P, Grill J, Becher O, Hawkins C, Majewski J, Jones C, Costello JF, Iavarone A, Aldape K, Brennan CW, Jabado N, Pfister SM. Pediatric and adult glioblastoma: multiform (epi)genomic culprits emerge. Nat Rev Cancer. 2014 Jan 24; 14(2):92-107.

Danielle Malo

Eva MM, *Yuki KE, *Dauphinee SM, Schwartzentruber JA, Pyzik M, Paquet M, Lathrop M, Majewski J, Vidal S.M., and D. Malo. 2014. Altered IFN‐γ‐mediated immunity and transcriptional

expression patterns in N‐Ethyl‐N‐nitrosourea‐induced STAT4 mutants confer susceptibility to acute typhoid‐like disease. J Immunol 192: 259‐270.

*Khan RT, *Yuki KE, Malo D. 2014. Fine‐mapping and phenotypic analysis of the Ity3 Salmonella susceptibility locus identify a complex genetic structure. PLoS One 9(2):e88009.

*Dauphinee SM, *Richer E, *Eva MM, McIntosh F, Paquet M, Dangoor D, Burkart C, Zhang D‐E, Gruenheid S,Gros P, Behr M, D Malo. 2014. Contribution of increased ISG15, ISGylation and deregulated Type I IFN signalingin Usp18 mutant mice during the course of bacterial infections. Genes Immun 15:282‐292.

Lafferty E, Flaczyk A, Angers I, Homer R, d'Hennezel E, Malo D, Piccirillo C, Vidal S and Qureshi S. 2014. An ENU‐induced splicing mutation reveals a role for Unc93b1 in early immune cell activation following Influenza A H1N1 infection". Genes Immun 15:320‐332.

*Khan RT, *Chevenon M, *Yuki KE and Malo D. 2014. Genetic dissection of the Ity3 locus identified a role for Ncf2 co‐expression modules and selectin P in susceptibility to typhoid‐like disease in mice. Front. Immunol. 5: article 375

Caignard G, *Eva MM, van Bruggen R, Eveleigh R, Bourque G, Malo D, Gros P, Vidal SM. 2014. Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples and Perspectives. Genes 5:885‐925.

Goldmann T, Zeller N, Raasch J, Kierdorf K, Frenzel K, Ketscher L, Basters A, Staszewski O, Brendecke SM, Spiess A, Tay TL, Kreutz C, Timmer J, Mancini GM, Blank T, Fritz G, Biber K, Lang R, Malo D, Merkler D, Heikenwälder M, Knobeloch KP, Prinz M. 2015. USP18 lack in microglia causes destructive interferonopathy of the mouse brain. EMBO J. 34:1612‐1629.

Marton, J., Albert, D., Wiltshire, SA., Park, R., Bergen, A., Qureshi, S., Malo, D., Burelle, Y., Vidal, SM. Cyclosporine A treatment inhibits Abcc6‐dependent cardiac necrosis and calcification following coxsackievirus B3 infection in mice. PLOS One. Under review.

*Beatty S, *Yuki KE, *Eva MM, *Dauphinee SM, *Lariviere L, Vidal SM, Malo D. 2015. Survival analysis and microarray profiling identify Cd40 as a candidate for the Salmonella susceptibility locus, Ity5. Genes Immun, under review

Duerr CU, McCarthy CDA, Mindt BC, Rubio M, Meli AP, *Eva MM, Mossman KL, Malo D,

Gamero AM, Vidal SM, King IL, Sarfati M, Fritz JH. 2015. Type I interferon restricts type 2 immunopathology through regulation of group 2 innate lymphoid cells. Nature, under review

Pierre Moffat

Moffatt P, Wazen R, Neves J, Nanci A (2014) Characterization of Secretory Calcium-Binding PhosphoProtein-Proline-Glutamine-rich 1: a Novel Basal Lamina Component Expressed at Cell- Tooth Interfaces. Cell & Tissue Research 358:843-855 Al-Jallad H, Palomo T, Moffatt P, Roughley P, Glorieux FH, Rauch F (2014) Normal Bone

Density and Fat Mass in Heterozygous SERPINF1 Mutation Carriers. J Clin Endocrinol Metab.

99:E2446-2450 Rauch F, Lalic L, Glorieux FH, Moffatt P, Roughley P (2014) Targeted Sequencing of a

Pediatric Metabolic Bone Gene Panel Using a Desktop Semiconductor Next-Generation Sequencer. Calcified Tissue International 95:323-331 Ariganello MB, Omelon S, Variola F, Wazen R, Moffatt P, Nanci A.(2014) Osteogenic cell

cultures cannot utilize exogenous sources of synthetic polyphosphate for mineralization. Journal of CellularBiochemistry 115:20189-2102

Palomo T, Al-Jallad H, Moffatt P, Glorieux FH, Lentle B, Roschger P, Klaushofer K, Rauch F. (2014) Skeletal Characteristics Associated with Homozygous and Heterozygous WNT1

Mutations. Bone 67:63-70 Patoine A, Gaumond M-H, Jaiswal PK, Fassier F, Rauch F, Moffatt P (2014) Topological

mapping of BRIL reveals a type II orientation and the effects of osteogenesis imperfecta mutations on its cellular destination. J Bone Miner Res. 29:2004-2016

Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F (2014) Osteoporosis Caused by Mutations in PLS3 - Clinical and Bone Tissue Characteristics. J Bone Miner Res. 29: 1805-1814.

Lazarus S, Moffatt P, Duncan EL, Thomas GP. (2014) A brilliant breakthrough in OI type V. Osteoporos Int. 25:399-405.

Roberta Palmour

Resistance of Klebsiella pneumoniae to the innate immune system of African green monkeys. Cox BL, Schiffer H, Dagget G Jr, Beierschmitt A, Sithole F, Lee E, Revan F, Halliday-Simmonds I, Beeler-Marfisi J, Palmour R, Soto E. Vet Microbiol. 2015 Mar 23;176(1-2):134-42. doi: 10.1016/j.vetmic.2015.01.001. Epub 2015 Jan 13. PMID: 25614101 [PubMed - in process] Related citations Remove from clipboard Select item 25470725

A deficit in face-voice integration in developing vervet monkeys exposed to ethanol during gestation. Zangenehpour S, Javadi P, Ervin FR, Palmour RM, Ptito M. PLoS One. 2014 Dec 3;9(12):e114100. doi: 10.1371/journal.pone.0114100. eCollection 2014. PMID: 25470725 [PubMed - in process] Free PMC Article Related citations Remove from clipboard Select item 25360686

Standardized full-field electroretinography in the Green Monkey (Chlorocebus sabaeus). Bouskila J, Javadi P, Palmour RM, Bouchard JF, Ptito M. PLoS One. 2014 Oct 31;9(10):e111569. doi: 10.1371/journal.pone.0111569. eCollection 2014. PMID: 25360686 [PubMed - in process] Free PMC Article Related citations Remove from clipboard

Tomi Pastinen

Adoue V, Schiavi A, Light N, Almlöf JC, Lundmark P, Ge B, Kwan T, Caron M, Ronnblom L, Wang C, Chen SH, Goodall AH, Cambien F, Deloukas P, Ouwehand

W, Syvanen AC, Pastinen T. (2014). Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs. Molecular Systems Biology. 10: 754-

Almlöf JC, Lundmark P, Lundmark A, Ge B, Pastinen T; Cardiogenics Consortium, Goodall AH, Cambien F, Deloukas P, Ouwehand WH, Syvänen AC. (2014) Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes. PLoS One. 15:e102612

Light N, Adoue V, Ge B, Chen SH, Kwan T, Pastinen T. (2014). Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping. Epigenetics. 9(9): 1238-1251.

Wagner JR, Busche S, Ge B, Kwan T, Pastinen T, Blanchette M. (2014). The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts. Genome Biol. 15(2):R37.

Zhang K, Huentelman MJ, Rao F, Sun EI, Corneveaux JJ, Schork AJ, Wei Z, Waalen J, Miramontes-Gonzalez JP, Hightower CM, Maihofer AX, Mahata M, Pastinen T, Ehret GB; International Consortium for Blood Pressure Genome-Wide Association Studies, Schork NJ, Eskin E, Nievergelt CM, Saier MH Jr, O'Connor DT. (2014).

Ioannis Ragoussis

Belfield EJ, Brown C, Gan X, Jiang C, Baban D, Mithani A, Mott R, Ragoussis J, Harberd NP. 2014. Microarray-based ultra-high resolution discovery of genomic deletion mutations. BMC genomics 15(1): 224.

Camps C, Saini HK, Mole DR, Choudhry H, Reczko M, Guerra-Assuncao JA, Tian YM, Buffa FM, Harris AL, Hatzigeorgiou AG et al. 2014. Integrated analysis of microRNA and mRNA expression and association with HIF binding reveals the complexity of microRNA expression regulation under hypoxia. Molecular cancer 13: 28.

Choudhry H, Schodel J, Oikonomopoulos S, Camps C, Grampp S, Harris AL, Ratcliffe PJ, Ragoussis J*, Mole DR. 2014*. Extensive regulation of the non-coding transcriptome by hypoxia: role of HIF in releasing paused RNApol2. EMBO reports 15(1): 70-76. *senior authors

Radovich M, Ragoussis J. 2014. Methods of quantifying microRNAs for hypoxia research: classic and next generation. Antioxidants & redox signaling 21(8): 1239-1248.

Roulis M, Nikolaou C, Kotsaki E, Kaffe E, Karagianni N, Koliaraki V, Salpea K, Ragoussis J, Aidinis V, Martini E, Becker C, Herschman HR, Vetrano S, Danese S, Kollias G. 2014. Intestinal myofibroblast-specific Tpl2-Cox-2-PGE2 pathway links innate sensing to epithelial homeostasis. Proceedings of the National Academy of Sciences of the United States of America 111(43): E4658-4667.

Sagri E, Reczko M, Gregoriou ME, Tsoumani KT, Zygouridis NE, Salpea KD, Zalom FG, Ragoussis J, Mathiopoulos KD. 2014a. Olive fly transcriptomics analysis implicates energy metabolism genes in spinosad resistance. BMC genomics 15: 714.

Sagri E, Reczko M, Tsoumani KT, Gregoriou ME, Harokopos V, Mavridou AM, Tastsoglou S, Athanasiadis K, Ragoussis J, Mathiopoulos KD. 2014b. The molecular biology of the olive fly comes of age. BMC genetics 15 Suppl 2: S8.

Saliba DG, Heger A, Eames HL, Oikonomopoulos S, Teixeira A, Blazek K, Androulidaki A, Wong D, Goh FG, Weiss M, Byrne A, Pasparakis M, Ragoussis J, Udalova IA. 2014. IRF5:RelA interaction targets inflammatory genes in macrophages. Cell reports 8(5): 1308-1317.

Choudhry H, Albukhari A, Morotti M, Hider S, Moralli D, Smythies J, Schodel J, Green CM, Camps C, Buffa F, Ratcliffe P, Ragoussis J*, Harris AL*, Mole DR*. 2014a. Tumor hypoxia induces nuclear paraspeckle formation through HIF-2alpha dependent transcriptional activation of NEAT1 leading to cancer cell survival. Oncogene. [Epub ahead of print] *senior co-authors

Öhman H, Natividad A, Bailey R, Ragoussis J, Johnson LL, Tiitinen A, Halttunen M, Paavonen J, Surcel HM. 2015. Contribution of IL12A and IL12B polymorphisms to C. trachomatis-specific cell-mediated immune responses. Scand J Immunol. 2015 [Epub ahead of print] 

Book Chapters

Camps, C., Harris, A. and Ragoussis, J. "Regulation of Hypoxia Responses by MicroRNA", MicroRNAs in Medicine, Wiley and Sons (2014)

  Brent Richards

A Leong, W Rehman, Z Dastani, CM Greenwood, N Timpson, L Langsetmo, C Berger, METASTROKE, L Fu, BYL Wong, S Malik, R Malik, DEC Cole D Goltzman, JB Richards. The causal effect of Vitamin D binding protein (DBP) levels on calcemic and cardiometablic diseases: A Mendelian randomization study. PLOS Medicine [IF: 14]. Oct 29, 2014. doi:10.1371/journal.pmed.1001751 . This paper received an Editorial from PLOS Medicine. [PMID: 25350643].

Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, Munroe PB, Ehret GB, Bis JC, Fox CS, Walker M, Borecki IB, Knowles JW, Yerges-Armstrong L, Ohlsson C, Perry JR, Chambers JC, Kooner JS, Franceschini N, Langenberg C, Hivert MF, Dastani Z, Richards JB, Semple RK, Frayling TM. Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease and type 2 diabetes. Diabetes [IF: 8.3]. 2014 Jul 21. pii: DB_140318. [Epub ahead of print] [PMID: 25048195]

Timpson N,*, Walter K, Min JL, Tachmazidou I, Malerba G, Shin S, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry J, Ring S, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud P, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries S, Zeggini E, Soranzo N*, UK10K Consortium. A low-frequency variant near APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nature Communications [IF: 10.0] September 2014, doi:10.1038/ncomms5871 [PMID: 25225788]

Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J, Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L, Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L, Grundberg E; The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Waldenberger M, Richards JB, Mohney RP, Milburn MV, John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ, Gieger C, Kastenmüller G, Spector TD, Soranzo N. An atlas of genetic influences on human blood metabolites. Nat Genet [IF: 35]. 2014Jun;46(6):543-50. doi: 10.1038/ng.2982. [PMID: 24816252].

Peter Roughley

Nasto, L.A., Ngo, K., Leme, A.S., Robinson, A.R., Dong, Q., Roughley, P., Usas, A., Sowa, G.A., Pola, E., Kang, J., Niedernhofer, L.J., Shapiro, S. and Vo, N.V. Investigating the role of DNA damage in tobacco smoking-induced spine degeneration. Spine J., 14, 416-423, 2014.

Illien-Jünger, S., Lu, Y., Purmessur, D., Mayer, J.E., Walter, B.A., Roughley, P.J., Qureshi, S.A., Hecht, A.C. and Iatridis, J.C. Detrimental effects of discectomy on intervertebral disc biology can be decelerated by growth factor treatment during surgery - A large animal organ culture model. Spine J., 14, 2724-2732, 2014.

Mwale, F., Wang, H.T., Roughley, P., Antoniou, J. and Haglund, L. Link N and mesenchymal stem cells can induce regeneration of the early degenerate intervertebral disc. Tissue Eng. Part A, 20, 2942-2949, 2014.

Cucchiarini, M., Madry, H., Guilak, F., Saris, D.B,, Stoddart, M.J., Koon Wong, M, and Roughley, P. A vision on the future of articular cartilage repair. Eur. Cell Mater., 27, 12-16, 2014.

Gawri, R., Ouellet, J., Onnerfjord, P., Alkhatib, B., Steffen, T., Heinegård, D., Roughley, P., Antoniou, J., Mwale, F. and Haglund, L. Link N is cleaved by human annulus fibrosus cells generating a fragment with retained biological activity. J. Orthop. Res., 32, 1189-1197, 2014.

Gawri, R., Moir, J., Ouellet, J., Beckman, L., Steffen, T., Roughley, P. and Haglund, L. Physiological loading can restore the proteoglycan content in a model of early IVD degeneration. PLoS One, 9, e101233, 2014.

Rauch, F., Lalic, L., Glorieux, F.H., Moffatt, P. and Roughley, P. Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer. Calcif. Tissue Int., 95, 323-331, 2014.

Ho, Y.Y., Baron, M., Recklies, A.D., Roughley, P.J. and Mort, J.S. Cells from the skin of patients with systemic sclerosis secrete chitinase 3-like protein 1. Biochim. Biophys. Acta Clin., 1, 2-11, 2014.

Al-Jallad, H., Palomo, T., Moffat,t P., Roughley, P., Glorieux, F.H. and Rauch, F. Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers. J. Clin. Endocrinol. Metab., 99, E2446-2450, 2014.

Alkhatib, B., Rosenzweig, D.H., Krock, E., Roughley, P.J., Beckman, L., Steffen, T., Weber, M.H., Ouelle,t J.A. and Haglund, L. Acute mechanical injury of the human intervertebral disc: link to degeneration and pain. Eur. Cell. Mater., 28, 98-111, 2014.

Roughley, P.J., Geng, Y. and Mort, J.S. The non-aggregated aggrecan in the human intervertebral disc can arise by a non-proteolytic mechanism. Eur. Cell. Mater., 28, 129-36, 2014.

Eric Shoubridge

Kashani, A, Thiffault, I, Dilenge, ME, Saint-Martin, C, Guerrero, K, Tran, LT, Shoubridge, EA, van der Knapp, MS, Braverman, N. Bernard, G. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics. 2014 June 21 epub ahead of print.

Sasarman, F, Nishimura, T, Antonicka, H, Weraarpachai, W, Shoubridge EA. Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome. Hum Mol Genet 24, 480-491. 2015. Epub ahead of print 2014.

Schwartzentruber, J, Buhas, D, Majewski, J, Sasarman, F, Papillon-Cavanagh, S, Thiffaut, I, Sheldon, KM, Massicotte, C, Patry, L, Simon, M, Zare, AS, McKernan, KJ; FORGE Canada Consortium, Michaud, J, Boles, RG, Deal, CL, Desilets, V, Shoubridge, EA, Samuels, ME. Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Hum Mutat. 35,1285-9. 2014.

Larivière, R, Gaudet, R, Gentil, BJ, Girard, M, Conte, TC, Minotti, S, Leclerc-Desaulniers, K, Gehring, K, McKinney, RA, Shoubridge, EA, McPherson, PS, Durham, HD, Brais, B. Sacs Knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Chrlevoix-Saguenay. Hum Mol Genet. Epub ahead of print, 26 Sept, 2014.

Janer, A, van Karnebeek, CDM, Sasarman, F, Antonicka, H, Al Ghamdi, M, Shyr, C,, Dunbar, M, Stockler-Ispiroglu, S, Ross, CJ, Vallance, H, Dionne, J Wasserman, WW.,

Shoubridge EA. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multi-organ involvement. Eur J Hum Genet Epubahead of print Jan 21, 2015.

Paupe, V, Prudent, J, Dassa, EP, Zurita Rendon, O, Shoubridge EA. CCDC90A(MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. Cell Metab 21, 109-116. 2015Ostergaard, E,

Weraarpachai, W, Ravn, K, Born, AP, Jonson, L, Duno, M, Wibrand, F, Shoubridge, EA, Vissing, J. Mutations in COA3 cause isolated complex IV

deficiencyassociated with neuropathy, exercise intolerance, obesity and short stature. J Med Genet Epub ahead of print Jan 20, 2015.

Antonicka, H and Shoubridge, EA. Mitochondrial RNA granules are centres for posttranscriptional RNA processing and ribosome biogenesis. Cell Reports In press Feb, 2015.

Rima Rosen

Christensen KE, Dahhou M, Kramer MS and Rozen R. The MTHFD1 1958G>A variant is associated with elevated C-reactive protein and body mass index in Canadian women from a premature birth cohort. Molec Gen Metab 111:390-392, 2014.

Lossos A, Teltsh O, Milman T, Meiner V, Rozen R, Leclerc D, Schwahn BC, Karp N, Rosenblatt DS, Watkins D, Shaag A, Korman SH, Heyman SN, Gal A, Newman JP, Steiner-Birmanns B, Abramsky O and Kohn Y. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. JAMA Neurol 71:901-904, 2014.

Meadows DN, Pyzik M, Wu Q, Torre S, Gros P, Vidal SM and Rozen R. Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant. Hum Mutat 35:594-600, 2014.

Jadavji NM, Bahous RH, Deng L, Malysheva O, Grand'Maison M, Bedell BJ, Caudill MA and Rozen R. Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism. Biochem J 461:205-212, 2014.

Leclerc D, Dejqaard K, Mazur A, Deng L, Wu Q, Nilsson T and Rozen R. Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency. Proteomics 14: 2558-2565, 2014.

Rima Slim

Akoury E, Zhang L, Ao A, Slim R*. NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton. Hum Reprod 2014, Jan;30(1):159-69.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R*. Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein-truncating mutations by whole exome sequencing. PLoS One. 2014 Sep 11;9(9):e107326.

Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R*. Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. J Med Genet. 2014 Sep;51(9):623-34

Singer H, Biswas A, Zimmer N, Messaed C, Oldenburg J, Slim R, El-Maarri O. NLRP7 inter-domain interactions: the NACHT-associated domain (NAD) is the physical mediator for oligomeric assembly. Mol Hum Reprod. 2014 20(10):990-1001.

Invited reviews, Comments, book chapters, books, flyers (see CV-A29 to A32)

Nguyen MNP and Slim R*. Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling. Curr Obstet Gynecol Rep. 2014 Jan 21;3:55‐64.

Jacquetta Trasler

Magnus N, Garnier D, Meehan B, *McGraw S, Lee TH, Caron M, Bourque G, Milsom C, Jabado N, Trasler JM, Pawlinski R, Mackman N, Rak J. Tissue factor expression provokes escape from tumor dormancy and leads to genomic alterations. Proc Natl Acad Sci USA 111(9):3544-9, 2014. Corbett H, Dubé CD, Slow S, Lever M, Trasler JM, Baltz JM. Uptake of betaine into mouse cumulus-oocyte complexes via the SLC6A7 isoform of Y+L transporter. Biol Reprod, 17; 90(4):81, 2014. *Fortier AL, *McGraw S, *Lopes FL, *Niles KM, **Landry M, Trasler JM. Modulation of imprinted gene expression following superovulation. Mol. Cell. Endocrinol, 5; 388(1-2):51-7, 2014. Wang SP, Wu JW, Bourdages H, Lefebvre JF, Cassavant S, Leavitt BR, Labuda D, Trasler JM, Smith CE, Hermo L, and Mitchell GA. The catalytic function of hormone-sensitive lipase is essential for fertility in male mice. Endocrinology, 155(8):3047-53, 2014. Luo ML , Tan HZ , Xie RH , Zhou SJ , Retnakaran R , Smith G , Walker MC , Davidge ST , Trasler JM , Wen SW. Maternal exposure to the production of fireworks and reduced rate of new onset hypertension in pregnancy. Hypertension Pregnancy, 33(4):457-66, 2014. Zhang B , Denomme MM , White CR , Leung K , Lee MB , Greene ND , Mann MR , Trasler JM , Baltz JM. Both the folate cycle and betaine-homocysteine methyltransferase contribute methyl groups for DNA methylation in mouse blastocysts. FASEB J. PMID:25466894, 2014 Dec 2. pii: fj.14-261131. [Epub ahead of print] Shaffer B, *McGraw S, Xiao SC, **Chan D, Trasler JM, Chaillet JR. The Dnmt1 intrinsically disordered domain regulates genomic methylation during development. Genetics, (In press), PMID: 25533200, 2014 Dec 22. pii: genetics.114.173609. [Epub ahead of print] 2014 Dec 22. pii: *McGraw S, *Zhang J, *Farag M, **Chan D, Caron M, Konermann C, *Oakes C, Mohan K, Pastinen T Bourque G, Chaillet R, Trasler JM. Transient DNMT1 suppression reveals hidden heritable marks in the genome. Nucleic Acids Research . In press pii:gku1386 [Epub ahead of print] PMID:25578964. Siklenka K, Erkek S, Godmann M, Lambrot R, **McGraw S, Lafleur C, Cohen T, Suddermann M, Hallett M, Trasler JM, Peters AHFM, and Kimmins S. Histone H3 lysine 4 dimethylation in sperm is implicated in embryo development and paternal transgenerational epigenetic inheritance. Nature: in revision. Mark Trifiro and Lenore Beitel

Gottlieb B, Beitel LK, Trifiro M. Changing genetic paradigms: creating next generation genetic databases as tools to understand the emerging complexities of genotype to phenotype relationships. Human Genomics 8(9): 1-9, 2014.

Zaman N, Giannopoulos PN, Chowdhury S, Bonneil E, Thibault P, Wang E, Trifiro M, Paliouras M. Proteomic-coupled-network analysis of T877A-androgen receptor interactomes can predict clinical prostate cancer outcomes between white (Non-Hispanic) and African-American groups. PLoS One 9:e113190, 2014.

Silvia Vidal

Kennedy JM, Fodil N, Torre S, Bongfen SE, Olivier JF, Leung V, Langlais D, Meunier C, Berghout J, Langat P, Schwartzentruber J, Majewski J, Lathrop M, Vidal S., Gros P. CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation. J Exp Med. 211:2519-35, 2014. CTP-87520

Pyzik*, M., Dumaine*, A.A., Charbeonneau*, B., Jonjic, S., Vidal, S. Viral MHC class I-like molecule allows evasion of NK cell effector responses in vivo. Journal of Immunology, 2014. MOP-777781

Fodil*, N., Langlais, D., Moussa, P., Boivin*, G., Di Pietrantonio, T., Radovanovic, I., Dumaine, A., Blanchette, M., Schurr, E., Gros, P., and Vidal, S. Specific dysregulation of IFNg production

by Natural Killer cells confers susceptibility to viral infection. PLOS Path, 10:e1004511, 2014. MOP-89821 and MOP-777781

Lafferty, E.I. Wiltshire*, S.A., Vidal, S., and Qureshi, S.T. UNC93B1-dependent endosomal TLR signaling regulates inflammation and mortality during Coxsackievirus B3 infection. J Innate Immun. 2015, Feb 11. [Epub ahead of print]. CTP-87520

Caignard*, G., M.M. Eva, R. van Bruggen, R. Eveleigh, G. Bourque, D. Malo, P. Gros, and Vidal, S. Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples, and Perspectives. Genes 5:887-925, 2014. CTP-87520

Kanagaratham, C., Marino, R., Camateros, P., Ren, J., Houle, D., Sladek, R., Vidal, S. and Radzioch, D. Quantitative trait locus analysis of a recombinant congenic strain associates two regions on mouse chromosome 12 with airway responsiveness. PLOS One 9: e104234, 2014. MOP-89821.

Lafferty, E.I., Flaczyk, A., Angers, I., d’Hennezel, E., Malo, D., Piccirillo, C.A., Vidal, S., Qureshi, S.T. An ENU-induced splice mutation reveals a role for Unc93b1 in early immune cell activation following influenza H1N1 infection. Genes and Immunity 15:320-32, 2014. CTP-87520

Meadows, D.N., Pyzik*, M., Wu, Q., Torre, S., Gros, P., Vidal, S. and Rozen, R. Increased resistance to malaria in mice with mehthylenetetrahydrofolate reductase (Mthfr) deficiency provides a mechanism for selection of the MTHFR 677C>T variant. Human Mutation, 35:594-600, 2014. MOP-77781

Rodrigue-Gervais IG, Labbé K, Dagenais M, Dupaul-Chicoine J, Champagne C, Morizot A, Skeldon A, Brincks EL, Vidal SM, Griffith TS, Saleh M. Cellular Inhibitor of Apoptosis Protein cIAP2 Protects against Pulmonary Tissue Necrosis during Influenza Virus Infection to Promote Host Survival. Cell Host Microbe. 15:23-35, 2014. MOP-89821.

Eva, MM S., Yuki KE, Dauphiné, Schwartzentruber, J.S., Pyzik*, Paquet, M., Lathrop, M., Majewski, J., Vidal, SM, and Malo, D. Altered IFN-γ-Mediated Immunity and Transcriptional Expression Patterns in N-Ethyl-N-Nitrosourea-Induced STAT4 Mutants Confer Susceptibility to Acute Typhoid-like Disease. J Immunol. 192:259-70, 2014. CTP-87520

Me. Ma’n H. Zawati Book Chapters

Zawati MH, “Éléments de la responsabilité civile du conseiller en génétique au Québec” Anne Marie Savard & Mélanie Bourrassa Forcier (eds) Droit et politiques de la santé (Quebec: LexisNexis Canada, 2014), chapter 19.

Zawati MH, “Liability and the Legal Duty to Inform in Research” in Joly Y & Knoppers BM (eds) Routledge Handbook of Medical Law and Ethics (Oxon: Routledge, 2014), 199.

Articles

Caulfield T, Burningham S, Joly Y, Master Z, Shabani M, Borry P, Becker A, Burgess M, Calder K, Critchley C, Edwards K, Fullerton SM, Gottweis H, Hyde-Lay R, Illes J, Isasi R, Kato K, Kaye J, Knoppers BM, Lynch J, McGuire A, Meslin E & Zawati MH, “A review of the Key Issues Associated with the Commercialization of Biobanks” (2014) 1:1 Journal of Law and the Biosciences, 94.

Dove ES, Knoppers BM & Zawati MH, “Towards an Ethics Safe Harbor for Global Biomedical Research” (2014) 1:1 Journal of Law and the Biosciences, 3. Dove ES & Özdemir V, “Glocal Bioethics: When International IRB Collaboration Confronts Local Politics” (2014) 14:5 American Journal of Bioethics, 20.

Knoppers BM, Avard D, Sénécal K, Zawati MH & P3G International Paediatrics Platform Members, “Return of Whole-Genome Sequencing Results in Paediatric Research: A Statement of the P3 G International Paediatrics Platform” (2014) 22:1

McGuire AL, Knoppers BM, Zawati MH & Clayton EW, “Can I be Sued for that? Liability Risk and the Disclosure of Clinically Significant Genetic Research Findings” (2014) 24:5 Genome Research, 719.

Thorogood A, Zawati MH & Knoppers BM, “Point-of-Care Genetic Tests for Infectious Disease: Legal Considerations” (2014) 12:1 Current Pharmacogenomics and Personalized Medicine, 43. Zawati MH, “There Will Be Sharing: Population Biobanks, the Duty to Inform and the Limitations of the Individualistic Conception of Autonomy” (2014) 21 Health Law Journal, 97.

Zawati MH, Cohen E, Parry D, Avard D & Syncox D, “Ethics Education for Clinician-Researchers in Genetics: The Combined Approach” (2014) Applied and Translational Genomics Journal, doi:10.1016/j.atg.2014.12.001.

Zawati MH, Parry D& Knoppers BM, “The best interests of the child and the return of results in genetic research: international comparative perspectives” (2014) 15:72 BMC Medical Ethics, 1.

Zawati MH, Parry D, Thorogood A, Nguyen MT, Boycott K, Rosenblatt D & Knoppers BM, “Reporting Results from Whole-Genome and Whole-Exome Sequencing in Clinical Practice: A Proposal for Canada?” (2014) 51:1 Journal of Medical Genetics, 68.

Zawati MH & Thorogood A, “The physician who knew too much: A comment on Watters v White” (2014) 21 Health Law Journal, 1.