Marie Shaw

8.4k citations

44 papers · 1.9k indexed · h-index 23

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Parasitology top 5%

Papers in

Genetics 21
- Genetics and Neurodevelopmental Disorders 17
- Genomics and Rare Diseases 6
- Genomic variations and chromosomal abnormalities 4
Parasitology 4

Co-authors: Jozef Gécz Jenefer M. Blackwell M Castés M. Cabrera J Convit Hawys Williams Ingrid E. Scheffer Vera M. Kalscheuer
Journals: European Journal of Human Genetics (4 papers)Human Molecular Genetics (4 papers)Annals of Human Genetics (4 papers)European Journal of Medical Genetics (3 papers)Human Mutation (3 papers)
Partner nations: United Kingdom Australia United States

In The Last Decade

Marie Shaw

44 papers receiving 1.9k citations

Peers

Countries citing papers authored by Marie Shaw

Since Specialization

Citations

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

Fields of papers citing papers by Marie Shaw

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Marie Shaw. 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 Marie Shaw. The network helps show where Marie Shaw may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Marie Shaw, 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 Marie Shaw Line = papers co-authored together Marie Shaw links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion European Journal of Medical Genetics ·Renée Carroll, Marie Shaw, Maria Arvio, Alison Gardner, Raman Kumar, Bree Hodgson, Sarah E. Heron, F. Ellis McKenzie, Irma Järvelä, Jozef Gécz	2020	4
2	O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling Journal of Biological Chemistry ·Sydney Rose, M Müller Joachim, Fatema Serajee, Marie Shaw, Lynne Hobson, Vera M. Kalscheuer, Nripesh Prasad, Shawn Levy, Juliet Taylor, Salim Aftimos, Charles E. Schwartz, Ahm M. Huq, Jozef Gécz, Lance Wells	2018	49
3	Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction European Journal of Human Genetics ·Renée Carroll, Raman Kumar, Marie Shaw, Jennie Slee, Vera M. Kalscheuer, Mark Corbett, Jozef Gécz	2017	6
4	Assessing the pathogenicity of RYR1 variants in malignant hyperthermia British Journal of Anaesthesia ·Jenna Falbo, Patrick Booms, Marie Shaw, Luo Ya-min, Ji Yeong Lee, Carmela Puig, Kathryn M. Stowell, Paul D. Allen, Derek S. Steele, Philip M. Hopkins	2017	16
5	A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability European Journal of Human Genetics ·Raman Kumar, Thuong Ha, Duyen Pham, Marie Shaw, Marie Mangelsdorf, Kathryn Friend, Lynne Hobson, Gillian Turner, Jackie Boyle, Michael Field, Anna Hackett, Mark Corbett, Jozef Gécz	2016	8
6	Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations inFTSJ1 Human Mutation ·Michael P. Guy, Marie Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M. Kalscheuer, Jozef Gécz, Eric M. Phizicky	2015	112
7	Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome European Journal of Medical Genetics ·Marie Shaw, Fu Xiang Qiu, Lyndal Henden, Melanie Bahlo, Alison Gardner, Vera M. Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gécz	2015	13
8	FOXP1 mutations cause intellectual disability and a recognizable phenotype American Journal of Medical Genetics Part A ·ПАТАНА А.Г., Kong-Yeng Tseng, Alireza Azizi Yousefkand, Denise Horn, Christopher W. Carr, Omar Abdul‐Rahman, Qiushi Guo, Trent Burgess, Marie Shaw, Jozef Gécz, Innsbruck Mallat, Kerry Fagan, Matthew F. Hunter	2013	67
9	Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability Human Molecular Genetics ·Mireille Melko, Lam Son Nguyen, Marie Shaw, Lachlan A. Jolly, Barbara Bardoni, Jozef Gécz	2013	10
10	Novel polymorphisms in ovine immune response genes and their association with abortion Animal Genetics ·Rebecca Darlay, Alex J. McCarthy, Cinnamon Akuoma Okwandu, J. E. Smith, Marie Shaw	2011	11
11	Genetic variation in RYR1 and malignant hyperthermia phenotypes British Journal of Anaesthesia ·Danielle Carpenter, Rachel L. Robinson, Rupert J. Quinnell, Alfred Sar, Marion C. Hogg, Т Н Сенька, Patrick Booms, David Iles, P.J. Halsall, Derek S. Steele, Marie Shaw, Philip M. Hopkins	2009	81
12	Carriage of DRB113* Is Associated with Increased Posttreatment IgE Levels against Schistosoma mansoni Antigens and Lower Long-Term Reinfection Levels The Journal of Immunology ·Mark Booth, Marie Shaw, Danielle Carpenter, Sarah Joseph, Narcis B. Kabatereine, Florina-Corina Patcas, Joseph K. Mwatha, Frances M. Jones, 辻村卓也, John H. Ouma, David W. Dunne	2006	11
13	Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not Gene ·Jozef Gécz, Marie Shaw, Jennifer R. Bellon, Miguel de Barros Lopes	2003	26
14	Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy Nature Genetics ·Petter Strømme, Marie Mangelsdorf, Marie Shaw, Karen M. Lower, M. E. Suzanne Lewis, Hélène Bruyèrè, S. B. Savchuk, Ági K. Gedeon, Robyn H. Wallace, Ingrid E. Scheffer, Gillian Turner, M. W. Partington, Suzanna G.M. Frints, J. P. Fryns, Grant R. Sutherland, John C. Mulley, Jozef Gécz	2002	317
15	A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation European Journal of Human Genetics ·Marie Shaw, Pietro Chiurazzi, Ren Cheng, Giovanni Neri, Jozef Gécz	2002	17
16	Genetic epidemiology of visceral leishmaniasis in northeastern Brazil Genetic Epidemiology ·Christopher S. Peacock, Andrew Collins, Marie Shaw, Fernando Tobias Sílveira, Jackson M. L. Costa, J. Mellor, Aditya Agni, Ruby Siddiqui, Jeffrey Jon Shaw, Jenefer M. Blackwell	2001	40
17	Analysis of the candidate gene NRAMP1 in the first 61 ARC National Repository families for rheumatoid arthritis. PubMed ·Marie Shaw, D Clayton, J. M. Blackwell	1997	13
18	Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. The Journal of Experimental Medicine ·M. Cabrera, Marie Shaw, Cedric Brion, Hawys Williams, M Castés, J Convit, Jenefer M. Blackwell	1995	390
19	Setting up HIV serology for the Karonga leprosy vaccine trial in Malaŵi Leprosy Review ·Marie Shaw, E Lleó, J. M. Blackwell, Paul Fine, J. M. Pönnighaus	1991	5
20	The 12E7 red cell quantitative polymorphism: control by the Y‐borne locus, Yg Annals of Human Genetics ·Patricia Tippett, Marie Shaw, Yu Jin Heo, Geoff Daniels	1986	13

About Marie Shaw

Marie Shaw is a scholar working on Genetics, Parasitology, Hematology, Molecular Biology and Infectious Diseases, having authored 44 papers that have together received 1.9k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (17 papers), Genomics and Rare Diseases (6 papers), Research on Leishmaniasis Studies (5 papers), Blood groups and transfusion (5 papers), Trypanosoma species research and implications (4 papers), Tuberculosis Research and Epidemiology (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and RNA modifications and cancer (4 papers). The work is most often cited by research in Genetics (580 citations), Parasitology (122 citations), Immunology (310 citations), Molecular Biology (916 citations) and Epidemiology (382 citations). Marie Shaw has collaborated with scholars based in United Kingdom, Australia and United States. Frequent co-authors include Jozef Gécz, Jenefer M. Blackwell, M Castés, M. Cabrera, J Convit, Hawys Williams, Ingrid E. Scheffer, Vera M. Kalscheuer, Lynne Hobson and J. P. Fryns. Their work appears in journals such as European Journal of Human Genetics, Human Molecular Genetics, Annals of Human Genetics, European Journal of Medical Genetics and Human Mutation.

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.

Explore authors with similar magnitude of impact