Mark E. Samuels

3.9k citations

111 papers · 8.1k · 2 hit papers · h-index 45

Impact in

Genetics top 1%
- Genomics and Rare Diseases
Hematology top 1%
- Iron Metabolism and Disorders

Papers in

Genetics 42
- Genomics and Rare Diseases 29
- Genetics and Neurodevelopmental Disorders 4
Molecular Biology 42
- Genomics and Chromatin Dynamics 9
- RNA Research and Splicing 5
- RNA and protein synthesis mechanisms 4
- Mitochondrial Function and Pathology 4

Co-authors: Phillip A. Sharp (9 shared papers)Andrew Z. Fire (7 shared papers)James L. Manley (2 shared papers)Paul D. Schedl (5 shared papers)Duane L. Guernsey (9 shared papers)Guy Armand Rouleau (10 shared papers)Marie‐Pierre Dubé (7 shared papers)Andrew C. Orr (10 shared papers)
Journals: Clinical Genetics (6 papers)The American Journal of Human Genetics (6 papers)Journal of Biological Chemistry (6 papers)Human Mutation (5 papers)European Journal of Human Genetics (4 papers)
Partner nations: Canada United States United Kingdom

In The Last Decade

Mark E. Samuels

106 papers receiving 7.7k citations

Mark E. Samuels's Hit Papers

align trajectories log scale

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge 2014 · 407 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2014 Genome biology
2003 Nature Genetics

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 111 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis Nature Genetics ·George V. Papanikolaou, Mark E. Samuels, E H Ludwig, Marcia L.E. MacDonald, Patrick L. Franchini, Marie‐Pierre Dubé, Lisa Andres, Julie MacFarlane Hit paper breakdown →	2003	815
2	An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Genome biology ·Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Elizabeth T. DeChene, Meghan C. Towne Hit paper breakdown →	2014	407
3	Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy Nature Genetics ·Johane M. Robitaille, Marcia L.E. MacDonald, Ajamete Kaykas, Laird C. Sheldahl, Jutta Zeisler, Marie‐Pierre Dubé, Linhua Zhang, Roshni Rebecca Singaraja	2002	398
4	Loss‐of‐function mutations in the Na v 1.7 gene underlie congenital indifference to pain in multiple human populations Clinical Genetics ·Y. Paul Goldberg, Julie MacFarlane, ML MacDonald, Marie‐Pierre Dubé, M Mattice, Clint Young, Sazzad M. Hossain, Terry D. Pape	2007	389
5	De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia Proceedings of the National Academy of Sciences ·Julie Gauthier, Nathalie Champagne, Ronald G. Lafrenière, Lan Xiong, Dan Spiegelman, Edna Brustein, Mathieu Lapointe, Huashan Peng	2010	320
6	Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Clinical Genetics ·Sarah L. Sawyer, Taila Hartley, David Alexandre Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda C Smith, H. Melanie Bedford, Geneviève Bernard	2015	305
7	[35] In Vitro transcription: Whole-cell extract Methods in enzymology on CD-ROM/Methods in enzymology ·James L. Manley, Andrew Z. Fire, Mark E. Samuels, Phillip A. Sharp	1983	275
8	A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree Human Genetics ·Kirsten M. Timms, Susanne Wagner, Mark E. Samuels, Kristian C. Forbey, Howard Goldfine, Srikanth Jammulapati, Mark H. Skolnick, Paul Nathan Hopkins	2004	272
9	Separation and characterization of factors mediating accurate transcription by RNA polymerase II. Journal of Biological Chemistry ·Mark E. Samuels, Andrew Z. Fire, Phillip A. Sharp	1982	253
10	Interactions between RNA polymerase II, factors, and template leading to accurate transcription. Journal of Biological Chemistry ·Andrew Z. Fire, Mark E. Samuels, Phillip A. Sharp	1984	208
11	Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia Nature Genetics ·Duane L. Guernsey, Haiyan Jiang, Dean R. Campagna, Susan C. Evans, Meghan Ferguson, Mark D. Kellogg, Mathieu Lachance, Mathew Nightingale	2009	203
12	5,6-Dichloro-1-β-D-ribofuranosylbenzimidazole inhibits transcription elongation by RNA polymerase II in vitro Journal of Biological Chemistry ·Lewis A. Chodosh, Andrew Z. Fire, Mark E. Samuels, Phillip A. Sharp	1989	199
13	FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project The American Journal of Human Genetics ·Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, François P. Bernier, Michael Brudno, Bartha Maria Knoppers	2014	194
14	Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 The American Journal of Human Genetics ·Duane L. Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Tina Babineau-Sturk, Jill Beis, Nadine Dumas	2010	154
15	Recessive TTN truncating mutations define novel forms of core myopathy with heart disease Human Molecular Genetics ·Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, Marie‐Christine Arné‐Bes	2013	150
16	Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Neuron ·Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben Zeev, David A. Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu	2013	137
17	Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome Nature Genetics ·Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang, Susan Evans, Christine Macgillivray, Mathew Nightingale, Meghan Ferguson, Marissa A. LeBlanc	2011	136
18	Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates The American Journal of Human Genetics ·Ronald G. Lafrenière, Marcia L.E. MacDonald, Marie‐Pierre Dubé, Julie MacFarlane, Bernard Brais, Sébastien Meilleur, Ryan R. Brinkman, Owen Dadivas	2004	122
19	Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy PLoS ONE ·Andrew C. Orr, Marie‐Pierre Dubé, Julien L. Marcadier, Haiyan Jiang, Antonio Federico, Stanley P. George, Christopher D. Seamone, Paul J. Dubord	2007	119
20	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	2012	109

About Mark E. Samuels

Mark E. Samuels is a scholar working on Genetics, Molecular Biology, Cellular and Molecular Neuroscience, Endocrinology, Diabetes and Metabolism and Surgery, having authored 111 papers that have together received 8.1k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (29 papers), Hereditary Neurological Disorders (10 papers), Genomics and Chromatin Dynamics (9 papers), RNA Research and Splicing (5 papers), Lipoproteins and Cardiovascular Health (4 papers), Genetics and Neurodevelopmental Disorders (4 papers), RNA and protein synthesis mechanisms (4 papers) and Mitochondrial Function and Pathology (4 papers). The work is most often cited by research in Genetics (2k citations), Hematology (892 citations), Molecular Biology (3.1k citations), Cellular and Molecular Neuroscience (464 citations) and Clinical Biochemistry (135 citations). Mark E. Samuels has collaborated with scholars based in Canada, United States and United Kingdom. Frequent co-authors include Phillip A. Sharp, Andrew Z. Fire, James L. Manley, Paul D. Schedl, Duane L. Guernsey, Guy Armand Rouleau, Marie‐Pierre Dubé, Andrew C. Orr, Lewis A. Chodosh and Jacques L. Michaud. Their work appears in journals such as Clinical Genetics, The American Journal of Human Genetics, Journal of Biological Chemistry, Human Mutation and European Journal of Human Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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Mark E. Samuels

Mark E. Samuels's Hit Papers

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About Mark E. Samuels

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