Mark E. Samuels

3.9k citations

55 papers · 3.1k · 1 hit paper · h-index 28

Impact in

Genetics top 2%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic and Kidney Cyst Diseases
Molecular Biology top 5%
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Congenital heart defects research

Papers in

Genetics 22
- Genomics and Rare Diseases 8
- Genomic variations and chromosomal abnormalities 7
- Connective tissue disorders research 4
- Genetics and Neurodevelopmental Disorders 4
Molecular Biology 30
- Congenital heart defects research 5
- Mitochondrial Function and Pathology 4
- Hedgehog Signaling Pathway Studies 4

Co-authors: Jacques L. Michaud (8 shared papers)Guy Armand Rouleau (7 shared papers)Jacek Majewski (9 shared papers)Lysanne Patry (8 shared papers)Andrew C. Orr (7 shared papers)Haiyan Jiang (6 shared papers)Jeremy Schwartzentruber (6 shared papers)Duane L. Guernsey (5 shared papers)
Journals: The American Journal of Human Genetics (4 papers)Human Mutation (4 papers)PLoS Genetics (3 papers)Journal of Medical Genetics (3 papers)European Journal of Human Genetics (3 papers)
Partner nations: Canada United States United Kingdom

In The Last Decade

Mark E. Samuels

53 papers receiving 3.0k citations

Mark E. Samuels's Hit Papers

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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 2014 · 406 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

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

#	Work
1	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	406
2	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	306
3	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	193
4	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, Scott Perry, Tina Babineau-Sturk, Jill Beis	2010	153
5	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, M. C. Arne-Bes	2013	150
6	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
7	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, Scott Perry, Meghan Ferguson	2011	136
8	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 George, Christopher D. Seamone, David Q. Andrews	2007	118
9	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 Gómez Fernández, Ferrán Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin	2013	108
10	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	107
11	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	2011	90
12	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	2014	86
13	Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis European Journal of Human Genetics ·Sonja A. de Munnik, Louise S. Bicknell, Salim F. Aftimos, Jumana Yousuf Al-Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Y. Edrees	2012	80
14	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	2009	75
15	Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies BMC Medical Genetics ·Thierry Christian Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José‐Mario Capo‐Chichi, Brigitte Delemer, Aurélio Balsalobre, Christina Nassif	2014	72
16	Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in 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 M. Sheldon, Christine Massicotte	2014	70
17	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 Lygia de Macena Sobreira	2016	61
18	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	2010	58
19	Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer PLoS Genetics ·Daniel Gaston, Samantha Hansford, Carla Oliveíra, Mathew Nightingale, Hugo Celso Pinheiro, Christine Macgillivray, Pardeep Kaurah, Andrea L. Rideout	2014	56
20	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	2013	46

About Mark E. Samuels

Mark E. Samuels is a scholar working on Genetics, Molecular Biology, Cellular and Molecular Neuroscience, Clinical Biochemistry and Biochemistry, having authored 55 papers that have together received 3.1k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (8 papers), Genomic variations and chromosomal abnormalities (7 papers), Genetic Neurodegenerative Diseases (5 papers), Congenital heart defects research (5 papers), Mitochondrial Function and Pathology (4 papers), Connective tissue disorders research (4 papers), Hedgehog Signaling Pathway Studies (4 papers) and Genetics and Neurodevelopmental Disorders (4 papers). The work is most often cited by research in Genetics (1.1k citations), Molecular Biology (1.5k citations), Cancer Research (252 citations), Cell Biology (292 citations) and Developmental Biology (34 citations). Mark E. Samuels has collaborated with scholars based in Canada, United States and United Kingdom. Frequent co-authors include Jacques L. Michaud, Guy Armand Rouleau, Jacek Majewski, Lysanne Patry, Andrew C. Orr, Haiyan Jiang, Jeremy Schwartzentruber, Duane L. Guernsey, Fadi F. Hamdan and Karen Bedard. Their work appears in journals such as The American Journal of Human Genetics, Human Mutation, PLoS Genetics, Journal of Medical Genetics 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

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In The Last Decade

Mark E. Samuels

Mark E. Samuels's Hit Papers

Peers

Countries citing papers authored by Mark E. Samuels

Fields of papers citing papers by Mark E. Samuels

All Works

About Mark E. Samuels

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