Mark E. Samuels

3.9k citations

41 papers · 1.2k · h-index 21

Impact in

Genetics top 5%
- Connective tissue disorders research
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
Molecular Biology
- Mitochondrial Function and Pathology
- Congenital heart defects research
- RNA modifications and cancer

Papers in

Molecular Biology 23
- Congenital heart defects research 4
- Mitochondrial Function and Pathology 4
- RNA Research and Splicing 3
Genetics 20
- Genetics and Neurodevelopmental Disorders 6
- Genomic variations and chromosomal abnormalities 4
- Connective tissue disorders research 4
- Genomics and Rare Diseases 4

Co-authors: Jacques L. Michaud (8 shared papers)Jacek Majewski (9 shared papers)Lysanne Patry (8 shared papers)Guy A. Rouleau (7 shared papers)Andrew Orr (7 shared papers)Jeremy Schwartzentruber (6 shared papers)Haiyan Jiang (6 shared papers)Duane L. Guernsey (5 shared papers)
Journals: Journal of Medical Genetics (3 papers)Human Mutation (3 papers)Scientific Reports (2 papers)European Journal of Human Genetics (2 papers)The American Journal of Human Genetics (2 papers)
Partner nations: Canada United States United Kingdom

In The Last Decade

Mark E. Samuels

40 papers receiving 1.2k citations

Peers

Countries citing papers authored by Mark E. Samuels

Since Specialization

Citations

This map shows the geographic impact of Mark E. Samuels's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Mark E. Samuels with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mark E. Samuels more than expected).

Fields of papers citing papers by Mark E. Samuels

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mark E. Samuels. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Mark E. Samuels. The network helps show where Mark E. Samuels may publish in the future.

Co-authors

The 25 scholars most cited alongside Mark E. Samuels, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Mark E. Samuels Line = papers co-authored together Mark E. Samuels links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 41 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy PLoS ONE ·Andrew Orr, Marie‐Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Q. Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane L. Guernsey, Mark E. Samuels	2007	110
2	Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population The American Journal of Human Genetics ·Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José‐Mario Capo‐Chichi, Simon Papillon‐Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael Shevell, Rachel Laframboise, Valérie Désilets, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud	2012	92
3	Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia Journal of Medical Genetics ·Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernández, Ferrán Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Élie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valérie Marchand, Jacques L. Michaud, Marc‐André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Françoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda	2013	82
4	Mutations in NOTCH2 in families with Hajdu-Cheney syndrome Human Mutation ·Jacek Majewski, Jeremy Schwartzentruber, Aurore Caqueret, Lysanne Patry, Janet Marcadier, Jean‐Pierre Fryns, Kym M. Boycott, Louis‐Georges Ste‐Marie, Fergus E. McKiernan, Ivo Mařík, Hilde Van Esch, Jacques L. Michaud, Mark E. Samuels	2011	81
5	A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome European Journal of Human Genetics ·Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F. Hamdan, Steven M. Harrison, Linda A. Baker, Françoise Couture, Isabelle Thiffault, Réda Ouazzani, Mark E. Samuels, Grant A. Mitchell, Guy A. Rouleau, Jacques L. Michaud, J.‐F. Soucy	2014	67
6	Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2 The American Journal of Human Genetics ·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 D. Ludman, Mark E. Samuels	2009	61
7	Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome Human Mutation ·Jeremy Schwartzentruber, Daniela Buhaş, Jacek Majewski, Florin Sasarman, Simon Papillon‐Cavanagh, Isabelle Thiffaut, Katherine Sheldon, Christine Massicotte, Lysanne Patry, Mariella Simon, Amir S. Zare, Kevin McKernan, Jacques L. Michaud, Richard G. Boles, Cheri Deal, Valérie Désilets, Eric A. Shoubridge, Mark E. Samuels	2014	61
8	Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies BMC Medical Genetics ·Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José‐Mario Capo‐Chichi, Brigitte Delemer, Aurélio Balsalobre, Christina Nassif, Dimitrios T. Papadimitriou, Anne Pagnier, Caroline Hasselmann, Lysanne Patry, Jeremy Schwartzentruber, Pierre‐François Souchon, Shinobu Takayasu, A Enjalbert, Guy Van Vliet, Jacek Majewski, Jacques Drouin, Mark E. Samuels	2014	54
9	Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease PLoS Genetics ·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 D. Ludman, David Skidmore, Timothy Benstead, Mark E. Samuels	2010	52
10	Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease PLoS Genetics ·Christoph Preuß, M. Capredon, Florian Wünnemann, Philippe Chétaille, Andrea Prince, Béatrice Godard, Séverine Leclerc, Nara Sobreira, Hua Ling, Philip Awadalla, Maryse Thibeault, Paul Khairy, Mark E. Samuels, Grégor Andelfinger	2016	48
11	Evolution of the patellar sesamoid bone in mammals PeerJ ·Mark E. Samuels, Sophie Regnault, John R. Hutchinson	2017	41
12	Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease Disease Models & Mechanisms ·Laurent Bogdanik, James N. Sleigh, Cong Tian, Mark E. Samuels, Karen Bedard, Kevin L. Seburn, Robert W. Burgess	2013	39
13	Bioinactive ACTH Causing Glucocorticoid Deficiency The Journal of Clinical Endocrinology & Metabolism ·Mark E. Samuels, Nicole Gallo‐Payet, Sandra Pinard, Caroline Hasselmann, Fabien Magne, Lysanne Patry, L. A. Chouinard, Jeremy Schwartzentruber, Patricia René, Nicole Sawyer, Michel Bouvier, Anissa Djemli, Edgard Delvin, Céline Huot, Dardye Eugène, Cheri Deal, Guy Van Vliet, Jacek Majewski, Johnny Deladoëy	2013	37
14	Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly Journal of Medical Genetics ·José‐Mario Capo‐Chichi, Joseph Tcherkezian, Fadi F. Hamdan, Jean Claude Décarie, Sylvia Dobrzeniecka, Lysanne Patry, Marc-Antoine Nadon, Bettina E. Mucha, Philippe Major, Michael Shevell, Bouchra Ouled Amar Bencheikh, Ridha Joober, Mark E. Samuels, Guy A. Rouleau, Philippe P. Roux, Jacques L. Michaud	2013	36
15	Müller Cell–Localized G-Protein–Coupled Receptor 81 (Hydroxycarboxylic Acid Receptor 1) Regulates Inner Retinal Vasculature via Norrin/Wnt Pathways American Journal Of Pathology ·Ankush Madaan, Prabhas Chaudhari, Mathieu Nadeau‐Vallée, David Hamel, Tang Zhu, Grant A. Mitchell, Mark E. Samuels, Sheetal Pundir, Rabah Dabouz, Colin W. H. Cheng, Mohammad Ali Mohammad Nezhady, Jean‐Sébastien Joyal, José Carlos Rivera, Sylvain Chemtob	2019	33
16	A mutation in the RNF170 gene causes autosomal dominant sensory ataxia Brain ·Paul N. Valdmanis, Nicolas Dupré, Mathieu Lachance, Shawn J. Stochmanski, Véronique Belzil, Patrick A. Dion, Isabelle Thiffault, Bernard Brais, Lyle Weston, Louis Saint‐Amant, Mark E. Samuels, Guy A. Rouleau	2010	30
17	Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria Journal of Medical Genetics ·José‐Mario Capo‐Chichi, Sarah Boissel, Edna Brustein, Sarah Pickles, Catherine Fallet‐Bianco, Christina Nassif, Lysanne Patry, Sylvia Dobrzeniecka, Meijiang Liao, Damian Labuda, Mark E. Samuels, Fadi F. Hamdan, Christine Vande Velde, Guy A. Rouleau, Pierre Drapeau, Jacques L. Michaud	2015	29
18	Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis Endocrinology ·Robert Opitz, Marc‐Phillip Hitz, Isabelle Vandernoot, Achim Trubiroha, Rasha Abu‐Khudir, Mark E. Samuels, Valérie Désilets, Sabine Costagliola, Grégor Andelfinger, Johnny Deladoëy	2014	28
19	A novel rearrangement of occludin causes brain calcification and renal dysfunction Human Genetics ·Marissa A. LeBlanc, Lynette S. Penney, Daniel Gaston, Yuhao Shi, Erika Aberg, Mathew Nightingale, Haiyan Jiang, Roxanne M. Gillett, Somayyeh Fahiminiya, Christine Macgillivray, Ellen Wood, Philip D. Acott, Manan Khan, Mark E. Samuels, Jacek Majewski, Andrew Orr, Christopher R. McMaster, Karen Bedard	2013	22
20	Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome The Journal of Clinical Endocrinology & Metabolism ·Sophia Sakka, Rachel I. Gafni, Justin H. Davies, B.L. Clarke, Peter J. Tebben, Mark E. Samuels, Vrinda Saraff, Klaus Klaushofer, Nadja Fratzl‐Zelman, Paul Roschger, Frank Rauch, Wolfgang Högler	2017	20

About Mark E. Samuels

Mark E. Samuels is a scholar working on Molecular Biology, Genetics, Surgery, Cellular and Molecular Neuroscience and Nutrition and Dietetics, having authored 41 papers that have together received 1.2k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (6 papers), Genetic Neurodegenerative Diseases (5 papers), Congenital heart defects research (4 papers), Mitochondrial Function and Pathology (4 papers), Genomic variations and chromosomal abnormalities (4 papers), Connective tissue disorders research (4 papers), Genomics and Rare Diseases (4 papers) and RNA Research and Splicing (3 papers). The work is most often cited by research in Genetics (412 citations), Molecular Biology (615 citations), Clinical Biochemistry (45 citations), Cellular and Molecular Neuroscience (116 citations) and Cell Biology (98 citations). Mark E. Samuels has collaborated with scholars based in Canada, United States and United Kingdom. Frequent co-authors include Jacques L. Michaud, Jacek Majewski, Lysanne Patry, Guy A. Rouleau, Andrew Orr, Jeremy Schwartzentruber, Haiyan Jiang, Duane L. Guernsey, Marie‐Pierre Dubé and Karen Bedard. Their work appears in journals such as Journal of Medical Genetics, Human Mutation, Scientific Reports, European Journal of Human Genetics and The American Journal of Human Genetics.

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Mark E. Samuels

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