Mark E Samuels

Mark E Samuels

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Mark E Samuels

Mark E Samuels

Publications by authors named "Mark E Samuels"

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52Publications

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Genetics of the patella.

Eur J Hum Genet 2019 May 21;27(5):671-680. Epub 2019 Jan 21.

Department of Pediatrics, Centre de Recherche du CHU Ste-Justine, Montreal, Canada.

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http://www.nature.com/articles/s41431-018-0329-6
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http://dx.doi.org/10.1038/s41431-018-0329-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461774PMC
May 2019

Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic Scoliosis.

Sci Rep 2019 Apr 5;9(1):5712. Epub 2019 Apr 5.

Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Sainte-Justine University Hospital, Research Center, Montreal, QC, Canada.

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http://dx.doi.org/10.1038/s41598-019-41191-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450973PMC
April 2019

A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French-Canadian Population.

Spine (Phila Pa 1976) 2018 02;43(3):172-178

Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Sainte-Justine, University Hospital, Research Center, Montreal, QC, Canada.

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http://dx.doi.org/10.1097/BRS.0000000000002280DOI Listing
February 2018

Evolution of the patellar sesamoid bone in mammals.

PeerJ 2017 21;5:e3103. Epub 2017 Mar 21.

Department of Comparative Biomedical Sciences, Structure and Motion Laboratory, The Royal Veterinary College , London Hertfordshire , UK.

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http://dx.doi.org/10.7717/peerj.3103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363259PMC
March 2017

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.

Thyroid 2016 06 18;26(6):852-9. Epub 2016 May 18.

1 Endocrinology Service and Research Center, Sainte-Justine University Hospital Center, Department of Pediatrics, Université de Montréal , Montreal, Canada .

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http://dx.doi.org/10.1089/thy.2016.0009DOI Listing
June 2016

Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis.

Horm Res Paediatr 2015 23;83(2):79-85. Epub 2014 Sep 23.

Endocrinology Service and Research Center, Sainte-Justine University Hospital Center, Department of Pediatrics, University of Montreal, Montreal, Que., Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050031PMC
http://dx.doi.org/10.1159/000365393DOI Listing
December 2015

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

J Med Genet 2015 May 3;52(5):303-11. Epub 2015 Feb 3.

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102952DOI Listing
May 2015

Genetic mosaics and the germ line lineage.

Genes (Basel) 2015 Apr 17;6(2):216-37. Epub 2015 Apr 17.

Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.3390/genes6020216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488662PMC
April 2015

Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?

Hum Mutat 2015 Mar;36(3):389

Department of Medicine, University of Montreal, Montreal, QC, Canada; Centre de Recherche du CHU Ste-Justine, University of Montreal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/humu.22752DOI Listing
March 2015

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of gene expression.

Mol Genet Metab Rep 2014 19;1:407-411. Epub 2014 Sep 19.

Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, Quebec, Canada; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Departments of Paediatrics and Biochemistry, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121353PMC
September 2014

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

Clin Dysmorphol 2014 Jul;23(3):88-94

Departments of aGenetics bPediatrics cDepartment of Obstetrics and Gynecology, Division of Maternal Fetal Medicine dDepartment of Medicine, and UAB Osteoporosis Prevention and Treatment Clinic, Division of Clinical Immunology and Rheumatology, the University of Alabama at Birmingham, Birmingham, Alabama, USA eResearch Centre of Ste-Justine Hospital, Department of Medicine, University of Montreal fDepartment of Medicine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000034DOI Listing
July 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

Whole-exome sequencing: opportunities in pediatric endocrinology.

Per Med 2014 Jan;11(1):63-78

Endocrinology Service, Department of Pediatrics, Université de Montréal & Centre de Recherche du CHU Ste-Justine, Montreal, QC, Canada.

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http://dx.doi.org/10.2217/pme.13.96DOI Listing
January 2014

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

A generalizable pre-clinical research approach for orphan disease therapy.

Orphanet J Rare Dis 2012 Jun 15;7:39. Epub 2012 Jun 15.

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

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http://dx.doi.org/10.1186/1750-1172-7-39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458970PMC
June 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

The case for locus-specific databases.

Nat Rev Genet 2011 Jun 4;12(6):378-9. Epub 2011 May 4.

Ste-Justine Hospital Research Center and Department of Medicine, University of Montreal, 3175 Cote Ste-Catherine, Montreal, Quebec, Canada.

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http://www.nature.com/articles/nrg3011
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http://dx.doi.org/10.1038/nrg3011DOI Listing
June 2011

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Brain 2011 Feb 28;134(Pt 2):602-7. Epub 2010 Nov 28.

Centre of Excellence in Neuromics, CHUM Notre-Dame Hospital, Department of Medicine, University of Montreal, Canada.

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http://dx.doi.org/10.1093/brain/awq329DOI Listing
February 2011

Saturation of the human phenome.

Authors:
Mark E Samuels

Curr Genomics 2010 Nov;11(7):482-99

Centre de Recherche de Ste-Justine, 3175, Côte Ste-Catherine, Montréal QC H3T 1C5, Canada.

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http://www.eurekaselect.com/openurl/content.php?genre=articl
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http://dx.doi.org/10.2174/138920210793175886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048311PMC
November 2010

Is gene discovery research or diagnosis?

Genet Med 2008 Jun;10(6):385-90

Department of Medicine, University of Montreal and Centre de Recherche du CHUM, Montreal, Quebec, Canada.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181770172
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http://dx.doi.org/10.1097/GIM.0b013e3181770172DOI Listing
June 2008

Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.

Mol Pain 2008 Jun 2;4:21. Epub 2008 Jun 2.

Département de Médicine, Centre de Recherche du CHUM, Local M-5226, Hôpital Notre-Dame, 1560 rue Sherbrooke Est, Montréal QC H2L 4M1, Canada.

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http://journals.sagepub.com/doi/10.1186/1744-8069-4-21
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http://dx.doi.org/10.1186/1744-8069-4-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430949PMC
June 2008

Genetics of cholesterol and lipoprotein metabolism.

Authors:
Mark E Samuels

Recent Pat Cardiovasc Drug Discov 2007 Nov;2(3):195-204

Centre de Recherche du CHUM, Université de Montréal, Hôpital Notre-Dame, 1560, rue Sherbrooke Est, Local M-5226, Montréal, QC H2L 4M1, Canada.

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http://dx.doi.org/10.2174/157489007782418937DOI Listing
November 2007

Human monogenic disorders - a source of novel drug targets.

Nat Rev Genet 2006 Apr;7(4):249-60

British Columbia Cancer Research Centre, University of British Columbia, Vancouver, British Columbia V5Z 1C3, Canada.

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http://www.nature.com/doifinder/10.1038/nrg1828
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http://dx.doi.org/10.1038/nrg1828DOI Listing
April 2006

A genome scan for loci influencing anti-atherogenic serum bilirubin levels.

Eur J Hum Genet 2002 Sep;10(9):539-46

Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5200842DOI Listing
September 2002