Christian R. Marshall

36.4k total citations
142 papers, 5.4k citations indexed

About

Christian R. Marshall is a scholar working on Genetics, Molecular Biology and Cognitive Neuroscience. According to data from OpenAlex, Christian R. Marshall has authored 142 papers receiving a total of 5.4k indexed citations (citations by other indexed papers that have themselves been cited), including 101 papers in Genetics, 71 papers in Molecular Biology and 19 papers in Cognitive Neuroscience. Recurrent topics in Christian R. Marshall's work include Genomic variations and chromosomal abnormalities (67 papers), Genomics and Rare Diseases (41 papers) and Genetics and Neurodevelopmental Disorders (29 papers). Christian R. Marshall is often cited by papers focused on Genomic variations and chromosomal abnormalities (67 papers), Genomics and Rare Diseases (41 papers) and Genetics and Neurodevelopmental Disorders (29 papers). Christian R. Marshall collaborates with scholars based in Canada, United States and United Kingdom. Christian R. Marshall's co-authors include Stephen W. Scherer, Anath C. Lionel, Dalila Pinto, Wendy Roberts, Péter Szatmári, Anne S. Bassett, Bridget A. Fernandez, Dimitri J. Stavropoulos, Lars Feuk and Richard F. Wintle and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Journal of Biological Chemistry and Nature Communications.

In The Last Decade

Christian R. Marshall

136 papers receiving 5.3k citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Christian R. Marshall Canada	39	3.2k	2.8k	1.2k	501	441	142	5.4k
Hilde Van Esch Belgium	40	3.5k 1.1×	3.5k 1.2×	682 0.6×	338 0.7×	250 0.6×	148	5.6k
Brian J. O’Roak United States	27	4.7k 1.5×	4.6k 1.6×	1.3k 1.1×	420 0.8×	951 2.2×	36	8.3k
Tjitske Kleefstra Netherlands	38	3.7k 1.2×	3.4k 1.2×	696 0.6×	483 1.0×	239 0.5×	131	5.7k
Janine M. LaSalle United States	54	4.3k 1.4×	4.5k 1.6×	2.1k 1.8×	348 0.7×	405 0.9×	142	7.5k
Santhosh Girirajan United States	34	3.4k 1.1×	2.5k 0.9×	1.0k 0.9×	399 0.8×	251 0.6×	82	5.0k
Jonathan Sebat United States	32	4.7k 1.5×	4.3k 1.5×	1.4k 1.2×	570 1.1×	681 1.5×	62	7.7k
Thierry Bienvenu France	38	3.2k 1.0×	2.4k 0.9×	944 0.8×	379 0.8×	133 0.3×	200	5.6k
Yin Yao Shugart United States	47	2.2k 0.7×	2.8k 1.0×	704 0.6×	817 1.6×	822 1.9×	153	6.8k
Bert B.A. de Vries Netherlands	39	5.1k 1.6×	3.6k 1.3×	653 0.6×	305 0.6×	340 0.8×	114	7.4k
Helger G. Yntema Netherlands	35	2.6k 0.8×	2.7k 1.0×	401 0.3×	372 0.7×	346 0.8×	100	4.9k

Countries citing papers authored by Christian R. Marshall

Since Specialization

Citations

This map shows the geographic impact of Christian R. Marshall'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 Christian R. Marshall with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Christian R. Marshall more than expected).

Fields of papers citing papers by Christian R. Marshall

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Christian R. Marshall. 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 Christian R. Marshall. The network helps show where Christian R. Marshall may publish in the future.

Co-authorship network of co-authors of Christian R. Marshall

This figure shows the co-authorship network connecting the top 25 collaborators of Christian R. Marshall. A scholar is included among the top collaborators of Christian R. Marshall based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Christian R. Marshall. Christian R. Marshall is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Lauffer, Marlen C., Kimberly Amburgey, Danique Beijer, et al.. (2025). Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study. Genetics in Medicine. 28(1). 101597–101597.

Ungar, Wendy J., Christian R. Marshall, Robin Z. Hayeems, et al.. (2025). A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis. Genetics in Medicine. 28(2). 101561–101561. 1 indexed citations

Hodgkinson, Victoria, G Westbury, Lawrence Korngut, et al.. (2024). A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 51(5). 660–671. 4 indexed citations

Sjaarda, Calvin, Lynette Lau, Jared T. Simpson, et al.. (2023). Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023. JAMA Network Open. 6(7). e2324963–e2324963. 5 indexed citations

Tavares, Erika, Graeme Nimmo, Tara Paton, et al.. (2022). Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa. Clinical Genetics. 102(6). 524–529. 4 indexed citations

Mojarad, Bahareh A., Worrawat Engchuan, Brett Trost, et al.. (2022). Genome-wide tandem repeat expansions contribute to schizophrenia risk. Molecular Psychiatry. 27(9). 3692–3698. 22 indexed citations

Reuter, Miriam S., Rajiv Chaturvedi, Rebekah Jobling, et al.. (2021). Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circulation Genomic and Precision Medicine. 14(4). e003410–e003410. 18 indexed citations

Walker, Susan, Sylvia Lamoureux, Tayyaba Khan, et al.. (2021). Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. American Journal of Medical Genetics Part A. 185(10). 3129–3135. 13 indexed citations

Marshall, Christian R., Shimul Chowdhury, Ryan J. Taft, et al.. (2020). Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. npj Genomic Medicine. 5(1). 47–47. 85 indexed citations

10.

Han, Chanshuai, Reem A. Alkhater, Tawfiq Froukh, et al.. (2016). Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. The American Journal of Human Genetics. 99(6). 1359–1367. 27 indexed citations

11.

Lionel, Anath C., Nasim Monfared, Stephen W. Scherer, Christian R. Marshall, & Saadet Mercimek‐Mahmutoglu. (2016). MED23‐associated refractory epilepsy successfully treated with the ketogenic diet. American Journal of Medical Genetics Part A. 170(9). 2421–2425. 12 indexed citations

12.

Patel, Jaina, Peixiang Wang, Berge A. Minassian, et al.. (2015). Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. Gene. 565(2). 187–191. 28 indexed citations

13.

Fauth, Christine, Katharina Steindl, Annick Toutain, et al.. (2015). A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2. American Journal of Medical Genetics Part A. 170(2). 392–402. 30 indexed citations

14.

Baskin, Berivan, Dimitri J. Stavropoulos, Martin Li, et al.. (2014). Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms. Molecular Genetics & Genomic Medicine. 2(6). 539–547. 17 indexed citations

15.

Kirkness, Ewen F., Rashel V. Grindberg, Joyclyn Yee-Greenbaum, et al.. (2013). Sequencing of isolated sperm cells for direct haplotyping of a human genome. Genome Research. 23(5). 826–832. 56 indexed citations

16.

Silversides, Candice K., Christian R. Marshall, Anath C. Lionel, et al.. (2012). 1q21.1 Microduplication expression in adults. Genetics in Medicine. 15(4). 282–289. 82 indexed citations

17.

Mullegama, Sureni V., Christian R. Marshall, Anath C. Lionel, et al.. (2011). Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics. 20(4). 398–403. 27 indexed citations

18.

Willemsen, Marjolein H., Bridget A. Fernandez, Carlos A. Bacino, et al.. (2009). Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. European Journal of Human Genetics. 18(4). 429–435. 84 indexed citations

19.

Bassett, Anne S., Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, & Stephen W. Scherer. (2008). Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Human Molecular Genetics. 17(24). 4045–4053. 128 indexed citations

20.

Goobie, Sharan, Jeroen Knijnenburg, David Fitzpatrick, et al.. (2008). Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenetic and Genome Research. 123(1-4). 65–78. 30 indexed citations

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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