Amanda C Smith

2.4k citations

43 papers · 1.9k · h-index 22

Impact in

Genetics top 5%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
Cell Biology top 5%
- Zebrafish Biomedical Research Applications

Papers in

Genetics 16
- Genomics and Rare Diseases 13
Clinical Biochemistry 4
- Bacterial Identification and Susceptibility Testing 3

Co-authors: Kym M. Boycott (15 shared papers)Fabien Avaron (4 shared papers)Dennis E. Bulman (14 shared papers)Jacek Majewski (12 shared papers)Jeremy Schwartzentruber (11 shared papers)Chandree L. Beaulieu (11 shared papers)Bhaja K. Padhi (2 shared papers)Marie‐Andrée Akimenko (3 shared papers)
Journals: Clinical Genetics (6 papers)Clinical Infectious Diseases (3 papers)Human Mutation (2 papers)Journal of Medical Genetics (2 papers)Developmental Biology (2 papers)
Partner nations: Canada United States Netherlands

In The Last Decade

Amanda C Smith

39 papers receiving 1.9k citations

Peers

Countries citing papers authored by Amanda C Smith

Since Specialization

Citations

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

Fields of papers citing papers by Amanda C Smith

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Amanda C Smith. 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 Amanda C Smith. The network helps show where Amanda C Smith may publish in the future.

Co-authors

The 25 scholars most cited alongside Amanda C Smith, 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 Amanda C Smith Line = papers co-authored together Amanda C Smith 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 43 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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
2	Bone patterning is altered in the regenerating zebrafish caudal fin after ectopic expression of sonic hedgehog and bmp2b or exposure to cyclopamine Proceedings of the National Academy of Sciences ·Elizabeth Quint, Amanda C Smith, Fabien Avaron, Lynda Laforest, William Gaffield, Marie‐Andrée Akimenko +1 other	2002	163
3	Mutations in PIK3R1 Cause SHORT Syndrome The American Journal of Human Genetics ·David Alexandre Dyment, Amanda C Smith, Diana Alcantara, Jeremy Schwartzentruber, Lina Basel‐Vanagaite, Cynthia J. Curry, I. Karen Temple, William Reardon	2013	157
4	Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia The American Journal of Human Genetics ·Janneke H. M. Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg, Salma Ben‐Salem, Susanne Tamara de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf	2012	153
5	Inhibition of BMP signaling during zebrafish fin regeneration disrupts fin growth and scleroblast differentiation and function Developmental Biology ·Amanda C Smith, Fabien Avaron, D. Guay, Bhaja K. Padhi +1 other	2006	142
6	Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing Clinical Genetics ·Tuğçe B. Balcı, Taila Hartley, Y. Xi, David Alexandre Dyment, Chandree L. Beaulieu, François P. Bernier, Lucie Dupuis, Gabriella Ana Horvath	2017	99
7	Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia Human Mutation ·Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu, David Alexandre Dyment, Amanda C Smith, Jodi Warman‐Chardon, Grace Yoon, Guy Armand Rouleau	2013	85
8	Screen for genes differentially expressed during regeneration of the zebrafish caudal fin Developmental Dynamics ·Bhaja K. Padhi, Lucille Joly, Patricia A. Tellis, Amanda C Smith, Purushothama Nanjappa, Mario Chevrette, Marc Ekker, Marie‐Andrée Akimenko	2004	78
9	Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy Clinical Epigenetics ·Kristin D. Kernohan, Laila Cigana Schenkel, Lijia Huang, Amanda C Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman‐Chardon	2016	67
10	Gene expression analysis on sections of zebrafish regenerating fins reveals limitations in the whole‐mount in situ hybridization method Developmental Dynamics ·Amanda C Smith, J. Zhang, D. Guay, Elizabeth Quint, Amanda M. Johnson, Marina A. Akimenko	2007	61
11	Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology Neurobiology of Aging ·David Alexandre Dyment, Amanda C Smith, Peter Humphreys, Jeremy Schwartzentruber, Chandree L. Beaulieu, Dennis E. Bulman, Jacek Majewski, John Woulfe	2014	58
12	Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase ( KARS ) Mutations Journal of Child Neurology ·Hugh J. McMillan, Peter Humphreys, Amanda C Smith, Jeremy Schwartzentruber, Pranesh K. Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski	2014	52
13	Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy Clinical Genetics ·David Alexandre Dyment, Erick Sell, Megan R. Vanstone, Amanda C Smith, David Garandeau, Virginie Garcia, Stéphane Carpentier, Emmanuelle Le Trionnaire	2013	46
14	Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update Human Mutation ·Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nicholas James Barrowman, Judith E Allanson, Laura Baker, Tabib A. Dabir	2015	46
15	Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease BMC Medical Genetics ·Hugh J. McMillan, Jeremy Schwartzentruber, Amanda C Smith, Suzie Lee, Pranesh K. Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski	2014	43
16	Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation Epilepsia ·Sunita Venkateswaran, Kenneth Alexis Myers, Amanda C Smith, Chandree L. Beaulieu, Jeremy Schwartzentruber, Jacek Majewski, Dennis E. Bulman, Kym M. Boycott	2014	35
17	Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines Genetics in Medicine ·Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Gabrielle Mettler, Jean McGowan‐Jordan, L. Sinclair-Bourque, Amanda C Smith, Olga Jarinova	2017	34
18	A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9 Journal of Inherited Metabolic Disease ·Amanda C Smith, Yoko Itō, Afsana Ahmed, Jeremy Schwartzentruber, Chandree L. Beaulieu, Erika Aberg, Jacek Majewski, Dennis E. Bulman	2018	34
19	Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His Clinical Genetics ·Sarah M. Nikkel, Amanda C Smith, Julien L. Marcadier, Dennis E. Bulman, Kym M. Boycott +1 other	2013	31
20	Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository Journal of Medical Genetics ·Chloe E. Mighton, Amanda C Smith, Justin G. Mayers, Robert Tomaszewski, Sherryl A. Taylor, Stacey L. Hume, Ron Agatep, Elizabeth Spriggs	2021	26

About Amanda C Smith

Amanda C Smith is a scholar working on Genetics, Clinical Biochemistry, Microbiology, Cell Biology and Molecular Biology, having authored 43 papers that have together received 1.9k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (13 papers), Zebrafish Biomedical Research Applications (5 papers), Fungal and yeast genetics research (5 papers), Hereditary Neurological Disorders (4 papers), Reproductive tract infections research (4 papers), Developmental Biology and Gene Regulation (4 papers), Bacterial Identification and Susceptibility Testing (3 papers) and RNA and protein synthesis mechanisms (2 papers). The work is most often cited by research in Genetics (687 citations), Cell Biology (284 citations), Clinical Biochemistry (64 citations), Cellular and Molecular Neuroscience (199 citations) and Molecular Biology (684 citations). Amanda C Smith has collaborated with scholars based in Canada, United States and Netherlands. Frequent co-authors include Kym M. Boycott, Fabien Avaron, Dennis E. Bulman, Jacek Majewski, Jeremy Schwartzentruber, Chandree L. Beaulieu, Bhaja K. Padhi, Marie‐Andrée Akimenko, Elizabeth Quint and David Alexandre Dyment. Their work appears in journals such as Clinical Genetics, Clinical Infectious Diseases, Human Mutation, Journal of Medical Genetics and Developmental Biology.

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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