Mark E. Samuels
Université de Montréal
80 Papers
693 Citations
Mark E. Samuels is an academic researcher from Université de Montréal. The author has contributed to research in topics: Biology & Exome sequencing. The author has an hindex of 36, co-authored 76 publications. Previous affiliations of Mark E. Samuels include Dalhousie University & Centre Hospitalier Universitaire Sainte-Justine.
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Papers
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Johane M Robitaille,Marcia L.E. MacDonald,Ajamete Kaykas,Laird C. Sheldahl,J Zeisler,Marie-Pierre Dubé,Lin-Hua Zhang,Roshni R. Singaraja,Duane L. Guernsey,B. Zheng,Lee Siebert,A. Hoskin-Mott,Michael T. Trese,Simon N. Pimstone,Barkur S. Shastry,Randall T. Moon,Michael R. Hayden,Y. Paul Goldberg,Mark E. Samuels +18 more
TL;DR: Injection of wildtype and mutated FZD4 into Xenopus laevis embryos revealed that wildtype, but not mutant, frizzled-4 activated calcium/calmodulin-dependent protein kinase II andprotein kinase C, components of the Wnt/Ca2+ signaling pathway.
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Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Y P Goldberg,Julie MacFarlane,Marcia L.E. MacDonald,Jay Thompson,M-P Dubé,Maryanne Mattice,R Fraser,C Young,Sakiat Hossain,Terry D Pape,B Payne,C Radomski,G Donaldson,Elizabeth Ives,J Cox,HB Younghusband,Roger C. Green,A Duff,E Boltshauser,GA Grinspan,JH Dimon,BG Sibley,Generoso Andria,E Toscano,J Kerdraon,D Bowsher,Simon N. Pimstone,Mark E. Samuels,Robin Sherrington,Hayden +29 more
TL;DR: Genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
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 A. 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,Paul I.W. de Bakker,Hatice Duzkale,Piotr Dworzynski,William G. Fairbrother,Laurent C. Francioli,Birgit 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 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 K. Ryckman,Val C. Sheffield,Val C. Sheffield,Edwin M. Stone,Edwin M. Stone,Thomas B. Bair,E. Ann Black-Ziegelbein,Terry A. Braun,Benjamin W. Darbro,Adam P. DeLuca,Diana L. Kolbe,Todd E. Scheetz,Aiden Eliot Shearer,Rama Sompallae,Kai Wang,Alexander G. Bassuk,Erik Edens,Katherine D. Mathews,Steven A. Moore,Oleg A. Shchelochkov,Pamela Trapane,Aaron D. Bossler,Colleen A. Campbell,Jonathan W. Heusel,Anne E. Kwitek,Tara Maga,Karin Panzer,Thomas H. Wassink,Douglas J. Van Daele,Hela Azaiez,Kevin T. Booth,Nic Meyer,Michael M. Segal,Marc S. Williams,Gerard Tromp,Peter White,Donald J. Corsmeier,Sara Fitzgerald-Butt,Gail E. Herman,Devon Lamb-Thrush,Kim L. McBride,David L. Newsom,Christopher R. Pierson,Alexander T. Rakowsky,Aleš Maver,Luca Lovrečić,Anja Palandačić,Anja Palandačić,Borut Peterlin,Ali Torkamani,Anna Wedell,Anna Wedell,Anna Wedell,Mikael Huss,Andrey Alexeyenko,Jessica M. Lindvall,Måns Magnusson,Måns Magnusson,Måns Magnusson,Daniel Nilsson,Daniel Nilsson,Daniel Nilsson,Henrik Stranneheim,Henrik Stranneheim,Henrik Stranneheim,Fulya Taylan,Christian Gilissen,Alexander Hoischen,Bregje W.M. van Bon,Helger G. Yntema,Marcel R. Nelen,Weidong Zhang,Jason Sager,Lu Zhang,Kathryn Blair,Deniz Kural,Michael Cariaso,Greg 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 E. 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. García-Lobo,Domingo González-Lamuño,Javier Llorca,María Cruz Rodríguez,Ignacio Varela,Martin G. Reese,Francisco M. De La Vega,Edward S. Kiruluta,Michele Cargill,Reece K. Hart,Jon M. Sorenson,Gholson J. Lyon,Gholson J. Lyon,David A. Stevenson,Bruce E. Bray,Barry 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 Albertyn,Kym M. Boycott,Dennis E. Bulman,Paul M. K. Gordon,A. Micheil Innes,Bartha Maria Knoppers,Jacek Majewski,Christian R. Marshall,Jillian S. Parboosingh,Sarah L. Sawyer,Mark E. Samuels,Jeremy Schwartzentruber,Isaac S. Kohane,David M. Margulies +210 more
TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sara L. Sawyer,Taila Hartley,David A. Dyment,Chandree L. Beaulieu,Jeremy Schwartzentruber,Amanda C. Smith,H M Bedford,Geneviève Bernard,Francois P. Bernier,Bernard Brais,Dennis E. Bulman,J. Warman Chardon,David Chitayat,Johnny Deladoëy,Bridget A. Fernandez,Patrick Frosk,Michael T. Geraghty,Brenda Gerull,William T. Gibson,Robert M. Gow,Gail E. Graham,Jane Green,Elise Héon,Gabriella Horvath,A.M. Innes,Nada Jabado,Raymond H. Kim,Robert K. Koenekoop,Aneal Khan,Ordan J. Lehmann,Roberto Mendoza-Londono,Jacques L. Michaud,Sarah M. Nikkel,L S Penney,Constantin Polychronakos,Julie Richer,Guy A. Rouleau,Mark E. Samuels,Victoria Mok Siu,Oksana Suchowersky,Mark A. Tarnopolsky,Grace Yoon,Farah R. Zahir,Jacek Majewski,Kym M. Boycott +44 more
TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.
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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Duane L. Guernsey,Haiyan Jiang,Dean R. Campagna,Susan C. Evans,Meghan Ferguson,Mark D. Kellogg,Mathieu Lachance,Makoto Matsuoka,Mathew Nightingale,Andrea L. Rideout,Louis Saint-Amant,Paul J. Schmidt,Andrew C. Orr,Sylvia S. Bottomley,Mark D. Fleming,Mark Ludman,Sarah Dyack,Conrad V. Fernandez,Mark E. Samuels +18 more
TL;DR: By positional cloning, this work defines a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrates that SLC 25A38 is important for the biosynthesis of heme in eukaryotes.
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