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Mark Samuels

Research Profile

Physiology

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Canada

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Mark E Samuels; Valerie Marchand; Jacques L Michaud; Natalie Patey; Vincent Raymond; Marc-André Rodrigue; Najmeh Alirezaie; Philip Awadalla; Ferran Casals; Hélène Decaluwe; Sylvie Desjardins; Stéphane Dubois; Isabel Fernandez; Isabelle Gosselin; Elie Haddad; Alan Hodgkinson; Youssef Idaghdour; Francoise Le Deist; Jacek Majewski; Bruno Maranda
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
José-Mario Capo-Chichi; Eliane Chouery; Fadi F Hamdan; André Mégarbane; Jacques L Michaud; Lysanne Patry; Guy A Rouleau; Mark E Samuels; Joshua A Sommers; Tony Yammine; Sanjay Kumar Bharti; Robert M Brosh; Zoha Kibar
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Myriam Srour; Luis H Ospina; Simon Papillon-Cavanagh; Lysanne Patry; Guy A Rouleau; Mark E Samuels; Jeremy Schwartzentruber; Michael I Shevell; Kym M Boycott; José-Mario Capo-Chichi; Valérie Désilets; Sylvia Dobrzeniecka; Fadi F Hamdan; Damian Labuda; Rachel Laframboise; Jacek Majewski; Bruno Maranda; Christine Massicotte; Jacques L Michaud
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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All Publications

2013: Mark E Samuels; Valerie Marchand; Jacques L Michaud; Natalie Patey; Vincent Raymond; Marc-André Rodrigue; Najmeh Alirezaie; Philip Awadalla; Ferran Casals; Hélène Decaluwe; Sylvie Desjardins; Stéphane Dubois; Isabel Fernandez; Isabelle Gosselin; Elie Haddad; Alan Hodgkinson; Youssef Idaghdour; Francoise Le Deist; Jacek Majewski; Bruno Maranda
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Journal of medical genetics 2013;50(5):324-9.
2013: José-Mario Capo-Chichi; Eliane Chouery; Fadi F Hamdan; André Mégarbane; Jacques L Michaud; Lysanne Patry; Guy A Rouleau; Mark E Samuels; Joshua A Sommers; Tony Yammine; Sanjay Kumar Bharti; Robert M Brosh; Zoha Kibar
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Human mutation 2013;34(1):103-7.
2012: Myriam Srour; Luis H Ospina; Simon Papillon-Cavanagh; Lysanne Patry; Guy A Rouleau; Mark E Samuels; Jeremy Schwartzentruber; Michael I Shevell; Kym M Boycott; José-Mario Capo-Chichi; Valérie Désilets; Sylvia Dobrzeniecka; Fadi F Hamdan; Damian Labuda; Rachel Laframboise; Jacek Majewski; Bruno Maranda; Christine Massicotte; Jacques L Michaud
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
American journal of human genetics 2012;90(4):693-700.
2012: Chandree L Beaulieu; Kym M Boycott; Aled M Edwards; Sean Ekins; Brendan J Frey; Geoffrey G Hicks; Adrian R Krainer; Christopher R McMaster; Mark E Samuels; Alex E MacKenzie
A generalizable pre-clinical research approach for orphan disease therapy.
Orphanet journal of rare diseases 2012;7():39.
2011: Jacek Majewski; Janet Marcadier; Ivo Marik; Fergus E McKiernan; Jacques L Michaud; Lysanne Patry; Kym M Boycott; Aurore Caqueret; Jean-Pierre Fryns; Jeremy A Schwartzentruber; Louis-Georges Ste-Marie; Hilde Van Esch; Mark E Samuels
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Human mutation 2011;32(10):1114-7.
2011: Duane L Guernsey; Makoto Matsuoka; Haiyan Jiang; Susan Evans; Christine Macgillivray; Mathew Nightingale; Scott Perry; Meghan Ferguson; Marissa LeBlanc; Jean Paquette; Lysanne Patry; Andrea L Rideout; Aidan Thomas; Andrew Orr; Chris R McMaster; Jacques L Michaud; Cheri Deal; Sylvie Langlois; Duane W Superneau; Sandhya Parkash; Mark Ludman; David L Skidmore; Mark E Samuels
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Nature genetics 2011;43(4):360-4.
2011: Andrew Orr; Simon Papillon-Cavanagh; Scott Perry; Sylvie Provost; Juan C Zenteno; Geraldine Asselin; Aurore Caqueret; Marie-Pierre Dubé; Susan C Evans; Duane L Guernsey; Haiyan Jiang; Hesham Lakosha; Louis Letourneau; Mark Ludman; Christine Macgillivray; Julien Marcadier; Makoto Matsuoka; Mathew Nightingale; Mark E Samuels
Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Molecular vision 2011;17():1850-61.
2010: Duane L Guernsey; Haiyan Jiang; Karen Bedard; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Christine Macgillivray; Mathew Nightingale; Scott Perry; Andrea L Rideout; Andrew Orr; Mark Ludman; David L Skidmore; Timothy J Benstead; Mark E Samuels
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
PLoS genetics 2010;6(8):.
2010: Duane L Guernsey; Haiyan Jiang; Julie Hussin; Marc Arnold; Khalil Bouyakdan; Scott Perry; Tina Babineau-Sturk; Jill Beis; Nadine Dumas; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Christine Macgillivray; Mathew Nightingale; Lysanne Patry; Andrea L Rideout; Aidan Thomas; Andrew Orr; Ingrid Hoffmann; Jacques L Michaud; Philip Awadalla; David C Meek; Mark Ludman; Mark E Samuels
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
American journal of human genetics 2010;87(1):40-51.
2009: Duane L Guernsey; Haiyan Jiang; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Mathew Nightingale; Andrea L Rideout; Sylvie Provost; Karen Bedard; Andrew Orr; Marie-Pierre Dubé; Mark Ludman; Mark E Samuels
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
American journal of human genetics 2009;85(1):120-9.
2009: Duane L Guernsey; Haiyan Jiang; Dean R Campagna; Susan C Evans; Meghan Ferguson; Mark D Kellogg; Mathieu Lachance; Makoto Matsuoka; Mathew Nightingale; Andrea Rideout; Louis Saint-Amant; Paul J Schmidt; Andrew Orr; Sylvia S Bottomley; Mark D Fleming; Mark Ludman; Sarah Dyack; Conrad V Fernandez; Mark E Samuels
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Nature genetics 2009;41(6):651-3.
2009: Haiyan Jiang; Andrew Orr; Duane L Guernsey; Johane Robitaille; Géraldine Asselin; Mark E Samuels; Marie-Pierre Dubé
Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data.
PloS one 2009;4(4):e5280.
2007: Y Paul Goldberg; Julie MacFarlane; Marcia L E MacDonald; Jay Thompson; M-P Dube; M Mattice; R Fraser; Clint Young; S Hossain; T Pape; B Payne; Christopher C Radomski; G Donaldson; E Ives; J Cox; H Banfield Younghusband; Roger C Green; A Duff; E Boltshauser; G A Grinspan; J H Dimon; B G Sibley; Generoso Andria; Ennio Toscano; J Kerdraon; D Bowsher; Simon N Pimstone; Mark E Samuels; R Sherrington; Michael R Hayden
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Clinical genetics 2007;71(4):311-9.
2006: Ryan R Brinkman; Marie-Pierre Dubé; Guy Rouleau; Andrew C Orr; Mark E Samuels
Human monogenic disorders - a source of novel drug targets.
Nature reviews. Genetics 2006;7(4):249-60.
2005: Marcia L E MacDonald; Y Paul Goldberg; Julie MacFarlane; Mark E Samuels; Michael T Trese; Barkur S Shastry
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
Clinical genetics 2005;67(4):363-6.
2004: Martin B Delatycki; Katrina J Allen; P Gow; Julie MacFarlane; Christopher C Radomski; Jay Thompson; Michael R Hayden; Y Paul Goldberg; Mark E Samuels
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
Clinical genetics 2004;65(5):378-83.
2004: Ronald G Lafreniere; Marcia L E MacDonald; Marie-Pierre Dube; Julie MacFarlane; Mary O'Driscoll; Bernard Brais; Sebastien Meilleur; Ryan R Brinkman; Owen Dadivas; Terry Pape; Christele Platon; Christopher C Radomski; Jenni Risler; Jay Thompson; Ana-Maria Guerra-Escobio; Gudarz Davar; Xandra O Breakefield; Simon N Pimstone; Roger C Green; William Pryse-Phillips; Y Paul Goldberg; H Banfield Younghusband; Michael R Hayden; Robin Sherrington; Guy Rouleau; Mark E Samuels
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
American journal of human genetics 2004;74(5):1064-73.
2004: George Papanikolaou; Mark E Samuels; Erwin H Ludwig; Marcia L E MacDonald; Patrick L Franchini; Marie-Pierre Dubé; Lisa Andres; Julie MacFarlane; Nikos Sakellaropoulos; Marianna Politou; Elizabeta Nemeth; Jay Thompson; Jenni K Risler; Catherine Zaborowska; Ryan Babakaiff; Christopher C Radomski; Terry D Pape; Owen Davidas; John Christakis; Pierre Brissot; Gillian Lockitch; Tomas Ganz; Michael R Hayden; Y Paul Goldberg
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Nature genetics 2004;36(1):77-82.
2002: Johane Robitaille; Marcia L E MacDonald; Ajamete Kaykas; Laird C Sheldahl; Jutta Zeisler; Marie-Pierre Dubé; Lin-Hua Zhang; Roshni R Singaraja; Duane L Guernsey; Binyou Zheng; Lee F Siebert; Ann Hoskin-Mott; Michael T Trese; Simon N Pimstone; Barkur S Shastry; Randall T Moon; Michael R Hayden; Y Paul Goldberg; Mark E Samuels
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Nature genetics 2002;32(2):326-30.