Jeremy Schwartzentruber

Jeremy Schwartzentruber

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Jeremy Schwartzentruber

Publications by authors named "Jeremy Schwartzentruber"

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

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

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1177/0883073818811223DOI Listing
February 2019

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

J Inherit Metab Dis 2018 07 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018

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

Am J Med Genet A 2017 Jun 21;173(6):1611-1619. Epub 2017 Apr 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

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http://dx.doi.org/10.1002/ajmg.a.38231DOI Listing
June 2017

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

Authors:
Ioanna Tachmazidou Dániel Süveges Josine L Min Graham R S Ritchie Julia Steinberg Klaudia Walter Valentina Iotchkova Jeremy Schwartzentruber Jie Huang Yasin Memari Shane McCarthy Andrew A Crawford Cristina Bombieri Massimiliano Cocca Aliki-Eleni Farmaki Tom R Gaunt Pekka Jousilahti Marjolein N Kooijman Benjamin Lehne Giovanni Malerba Satu Männistö Angela Matchan Carolina Medina-Gomez Sarah J Metrustry Abhishek Nag Ioanna Ntalla Lavinia Paternoster Nigel W Rayner Cinzia Sala William R Scott Hashem A Shihab Lorraine Southam Beate St Pourcain Michela Traglia Katerina Trajanoska Gialuigi Zaza Weihua Zhang María S Artigas Narinder Bansal Marianne Benn Zhongsheng Chen Petr Danecek Wei-Yu Lin Adam Locke Jian'an Luan Alisa K Manning Antonella Mulas Carlo Sidore Anne Tybjaerg-Hansen Anette Varbo Magdalena Zoledziewska Chris Finan Konstantinos Hatzikotoulas Audrey E Hendricks John P Kemp Alireza Moayyeri Kalliope Panoutsopoulou Michal Szpak Scott G Wilson Michael Boehnke Francesco Cucca Emanuele Di Angelantonio Claudia Langenberg Cecilia Lindgren Mark I McCarthy Andrew P Morris Børge G Nordestgaard Robert A Scott Martin D Tobin Nicholas J Wareham Paul Burton John C Chambers George Davey Smith George Dedoussis Janine F Felix Oscar H Franco Giovanni Gambaro Paolo Gasparini Christopher J Hammond Albert Hofman Vincent W V Jaddoe Marcus Kleber Jaspal S Kooner Markus Perola Caroline Relton Susan M Ring Fernando Rivadeneira Veikko Salomaa Timothy D Spector Oliver Stegle Daniela Toniolo André G Uitterlinden Inês Barroso Celia M T Greenwood John R B Perry Brian R Walker Adam S Butterworth Yali Xue Richard Durbin Kerrin S Small Nicole Soranzo Nicholas J Timpson Eleftheria Zeggini

Am J Hum Genet 2017 Jun 25;100(6):865-884. Epub 2017 May 25.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473732PMC
June 2017

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

Invest Ophthalmol Vis Sci 2017 03;58(3):1736-1742

Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.

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http://dx.doi.org/10.1167/iovs.16-20864DOI Listing
March 2017

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Am J Med Genet A 2017 Jan 15;173(1):126-134. Epub 2016 Sep 15.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37973DOI Listing
January 2017

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Hum Mutat 2016 Mar 8;37(3):269-79. Epub 2016 Jan 8.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/humu.22942DOI Listing
March 2016

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.

J Allergy Clin Immunol 2015 Apr 11;135(4):998-1007.e6. Epub 2014 Oct 11.

INSERM UMR 1163, The Human Lymphohematopoiesis Laboratory, Imagine Institute, Paris, France; Paris Descartes Sorbonne Paris Cité University, Imagine Institute, Paris, France; Department of Immunology and Hematology, Hôpital Necker Enfants Malades, F-75015 Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.08.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382329PMC
April 2015

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

BMC Med Genet 2015 Apr 30;16:28. Epub 2015 Apr 30.

Department of Pediatrics and Child Health, University of Manitoba, FE229 Community Services Bldg, 685 William Ave, Winnipeg, MB, R3E 0Z2, Canada.

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http://dx.doi.org/10.1186/s12881-015-0175-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630843PMC
April 2015

Two cases of congenital myasthenic syndrome with vocal cord paralysis.

Neurology 2015 Mar 18;84(12):1281-2. Epub 2015 Feb 18.

From McMaster University (R.A.-S., L.I.B., M.A.T.), Hamilton; and McGill University and Genome Quebec Innovation Centre (J.S.), Montréal, Canada.

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http://www.neurology.org/content/early/2015/02/18/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000139
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http://dx.doi.org/10.1212/WNL.0000000000001396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366090PMC
March 2015

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

Neurobiol Aging 2015 Feb 6;36(2):1222.e1-5. Epub 2014 Sep 6.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.09.005DOI Listing
February 2015

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis.

Infect Immun 2015 Feb 1;83(2):759-68. Epub 2014 Dec 1.

Department of Human Genetics, McGill University, Montreal, QC, Canada Complex Traits Group, McGill University, Montreal, QC, Canada Department of Biochemistry, McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1128/IAI.02586-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294254PMC
February 2015

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Cancer Discov 2015 Feb 3;5(2):135-42. Epub 2014 Dec 3.

Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1158/2159-8290.CD-14-1156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320660PMC
February 2015

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation.

J Exp Med 2014 Dec 17;211(13):2519-35. Epub 2014 Nov 17.

Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada

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http://dx.doi.org/10.1084/jem.20140455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267237PMC
December 2014

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Muscle Nerve 2014 Nov 16;50(5):775-9. Epub 2014 Sep 16.

Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montréal, Canada; Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Montréal, Canada.

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http://doi.wiley.com/10.1002/mus.24224
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http://dx.doi.org/10.1002/mus.24224DOI Listing
November 2014

Neuropathologic features of pontocerebellar hypoplasia type 6.

J Neuropathol Exp Neurol 2014 Nov;73(11):1009-25

From the Calgary Laboratory Services (JTJ) and Alberta Children's Hospital Foundation Research Institute for Child and Maternal Health, Department of Medical Genetics (AMI), University of Calgary, Calgary, Alberta; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario (ACS, MRV, FCC, DEB, JMichaud, KMB); and McGill University and Genome Quebec Innovation Center, Montreal, Quebec (JAS, JMajewski), Canada; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington (RFH, RAD); and Department of Neurological Surgery, University of Washington, Seattle, Washington (RFH).

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http://dx.doi.org/10.1097/NEN.0000000000000123DOI Listing
November 2014

Bridging the gap between single molecule and ensemble methods for measuring lateral dynamics in the plasma membrane.

PLoS One 2013 4;8(12):e78096. Epub 2013 Dec 4.

Department of Physics, Chemistry and Pharmacy, MEMPHYS-Center for Biomembrane Physics & DaMBIC - Danish Molecular Biomedical Imaging Center, University of Southern Denmark, Odense, Denmark.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0078096PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850922PMC
September 2014

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

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http://www.nature.com/articles/ncomms5483
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http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.

Nature 2014 Jun 28;510(7504):288-92. Epub 2014 May 28.

1] Laboratoire Activation Lymphocytaire et Susceptibilité à l'EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France [2] Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France [3] Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Paris 75015, France [4].

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http://www.nature.com/articles/nature13386
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http://dx.doi.org/10.1038/nature13386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485470PMC
June 2014

Histone H3 mutations in pediatric brain tumors.

Cold Spring Harb Perspect Biol 2014 Apr 1;6(4):a018689. Epub 2014 Apr 1.

McGill University, Montreal, Quebec H3A 0G4, Canada.

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http://dx.doi.org/10.1101/cshperspect.a018689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970419PMC
April 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Ophthalmic Genet 2013 Sep 30;34(3):119-29. Epub 2013 Jan 30.

Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.

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http://dx.doi.org/10.3109/13816810.2013.763993DOI Listing
September 2013

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.

Nat Genet 2013 Aug 30;45(8):927-32. Epub 2013 Jun 30.

Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

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http://pubman.mpdl.mpg.de/pubman/item/escidoc:1982973/compon
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http://www.nature.com/doifinder/10.1038/ng.2682
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http://dx.doi.org/10.1038/ng.2682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951336PMC
August 2013

Bioinactive ACTH causing glucocorticoid deficiency.

J Clin Endocrinol Metab 2013 Feb 4;98(2):736-42. Epub 2013 Jan 4.

Endocrinology Service and Research Center, Centre Hospitalier Universitaire Sainte-Justine, Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada.

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http://dx.doi.org/10.1210/jc.2012-3199DOI Listing
February 2013

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.

Pediatrics 2013 Feb 14;131(2):e620-5. Epub 2013 Jan 14.

Department of Pediatrics, McGill University/McGill University Health Center, 4060 Ste Catherine West, PT-239, Montreal, QC H3Z 2Z3 Canada.

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http://dx.doi.org/10.1542/peds.2012-1303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675830PMC
February 2013

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.

Cancer Cell 2012 Oct;22(4):425-37

Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ccr.2012.08.024DOI Listing
October 2012

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Hum Mutat 2011 Oct 9;32(10):1114-7. Epub 2011 Sep 9.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Canada.

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http://dx.doi.org/10.1002/humu.21546DOI Listing
October 2011

What can exome sequencing do for you?

J Med Genet 2011 Sep 5;48(9):580-9. Epub 2011 Jul 5.

McGill University and Genome Quebec Innovation Centre, Montreal, Canada.

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http://jmg.bmj.com/content/48/9/580.full.pdf
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100223
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http://dx.doi.org/10.1136/jmedgenet-2011-100223DOI Listing
September 2011

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

J Med Genet 2011 Sep 3;48(9):590-2. Epub 2011 Aug 3.

Department of Human Genetics, Department of Medical Genetics, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, QC H3G 1A4, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2011-100286DOI Listing
September 2011