Alison E. Gardner

7.1k citations

56 papers · 5.7k · 2 hit papers · h-index 30

Impact in

Aging top 1%
Genetics top 1%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities

Papers in

Genetics 38
- Genetics and Neurodevelopmental Disorders 30
- Genomics and Rare Diseases 12
- Genomic variations and chromosomal abnormalities 7
- Neurogenetic and Muscular Disorders Research 5
Psychiatry and Mental health 7
- Epilepsy research and treatment 5

Co-authors: Jozef Gécz (18 shared papers)Gabriel Kremmidiotis (6 shared papers)Mark A Corbett (9 shared papers)John C. Mulley (3 shared papers)Samuel Frank Berkovic (5 shared papers)David Frederick Callen (5 shared papers)Leanne M. Dibbens (3 shared papers)Ingrid Eileen Scheffer (4 shared papers)
Journals: The American Journal of Human Genetics (9 papers)Nature Genetics (5 papers)European Journal of Medical Genetics (5 papers)Human Mutation (4 papers)Molecular Psychiatry (3 papers)
Partner nations: Australia United States United Kingdom

In The Last Decade

Alison E. Gardner

55 papers receiving 5.6k citations

Alison E. Gardner's Hit Papers

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation 2009 · 508 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.

2009 Nature Genetics
1994 Nature

Peers

Countries citing papers authored by Alison E. Gardner

Since Specialization

Citations

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

Fields of papers citing papers by Alison E. Gardner

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Alison E. Gardner. 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 Alison E. Gardner. The network helps show where Alison E. Gardner may publish in the future.

Co-authors

The 25 scholars most cited alongside Alison E. Gardner, 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 Alison E. Gardner Line = papers co-authored together Alison E. Gardner 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 56 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans Nature ·Richard K. Wilson, R. Ainscough, KIMBERLY D. ANDERSON, C. Baynes, Mary Berks, James Bonfield, J. Burton, Mary A. O' Connell Hit paper breakdown →	1994	1358
2	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Nature Genetics ·Patrick S. Tarpey, Raffaella Smith, Erin Pleasance, Annabel C. Whibley, Sarah Edkins, Claire W. Hardy, Sarah O’Meara, Calli Latimer Hit paper breakdown →	2009	508
3	The spectrum of SCN1A-related infantile epileptic encephalopathies Brain ·Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne M. Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette Grant Sadleir, Eva Andermann	2007	426
4	Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus The American Journal of Human Genetics ·Robyn H. Wallace, Ingrid Eileen Scheffer, Shaun Barnett, M. Richards, Leanne M. Dibbens, Reshma R. Desai, Tally Lerman‐Sagie, Dorit Lev	2001	294
5	Mutations in DEPDC5 cause familial focal epilepsy with variable foci Nature Genetics ·Leanne M. Dibbens, Boukje de Vries, Simona Donatello, Sarah E. Heron, Bree L. Hodgson, Satyan Chintawar, Douglas Ewan Crompton, James Nicholas Hughes	2013	285
6	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Molecular Psychiatry ·Hao Yu Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen	2015	244
7	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation Nature Genetics ·Patrick S. Tarpey, Frances Lucy Raymond, Lam Son Nguyen, Jayson D. Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge	2007	230
8	PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome The American Journal of Human Genetics ·Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James Nicholas Hughes, Clair Pridmore, Bree L. Hodgson	2012	221
9	Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse Nature Genetics ·David O. Morgan, Lee Turnpenny, Judith Goodship, Weilie Dai, Kumud Majumder, Lucy Matthews, Alison E. Gardner, Gaby Schuster	1998	199
10	Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy Molecular Psychiatry ·G. McMichael, Matthew Neil Bainbridge, Eric Haan, Mark A Corbett, Alison E. Gardner, Suzanna C. Thompson, Bregje W.M. van Bon, Clare L. van Eyk	2015	178
11	Fluconazole versus Amphotericin B in the treatment of Hematogenous Candidiasis: A matched cohort study The American Journal of Medicine ·Elias J. Anaissie, Shahe E. Vartivarian, Dima Abi-Said, Ömrüm Uzun, Hélio Pinczowski, Dimitrios P. Kontoyiannis, Pierre Khoury, Kostas Papadakis	1996	165
12	Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability Nature Genetics ·Cheryl Shoubridge, Patrick S. Tarpey, Fatima Abidi, Sarah L. Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie A Shaw	2010	128
13	The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene Journal of Human Genetics ·Kavita Bhalla, Hilary A. Phillips, Joanna Crawford, Olivia L. D. McKenzie, John C. Mulley, Helen J. Eyre, Alison E. Gardner, Gabriel Kremmidiotis	2004	125
14	Randomized Comparison of Cooked and Noncooked Diets in Patients Undergoing Remission Induction Therapy for Acute Myeloid Leukemia Journal of Clinical Oncology ·Alison E. Gardner, Gloria N. Mattiuzzi, Stefan H Faderl, Gautam M. Borthakur, Guillermo Garcia‐Manero, Sherry A. Pierce, Mark Brandt, Elihu H. Estey	2008	105
15	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Nature Communications ·Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy Schneider, Antonietta Coppola, Laura Licchetta	2019	104
16	A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 The American Journal of Human Genetics ·Mark A Corbett, Melanie Bahlo, Lachlan A. Jolly, Zaid Afawi, Alison E. Gardner, Karen L. Oliver, Stanley Tan, A. Kirtland Coffey	2010	102
17	A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia The American Journal of Human Genetics ·Mark A Corbett, Michael Schwake, Melanie Bahlo, Leanne M. Dibbens, Meng Lin, Luke C. Gandolfo, Danya F. Vears, John D. O’Sullivan	2011	96
18	A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability The American Journal of Human Genetics ·Lingli Huang, Lachlan A. Jolly, Saffron A.G. Willis‐Owen, Alison E. Gardner, Raman Kumar, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek	2012	87
19	ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity The American Journal of Human Genetics ·Hiromi Hirata, Indrajit Nanda, Anne van Riesen, G. McMichael, Hao Yu Hu, Melanie Hambrock, Marie-Amélie Papon, Ute Fischer	2013	67
20	Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies The American Journal of Human Genetics ·Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert S. Kleyner, Alan F. Rope, Margaret S. Yoon	2018	65

About Alison E. Gardner

Alison E. Gardner is a scholar working on Genetics, Genetics, Psychiatry and Mental health, Molecular Biology and Pediatrics, Perinatology and Child Health, having authored 56 papers that have together received 5.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (30 papers), Genomics and Rare Diseases (12 papers), Genomic variations and chromosomal abnormalities (7 papers), RNA modifications and cancer (7 papers), RNA Research and Splicing (6 papers), Epilepsy research and treatment (5 papers), Neurogenetic and Muscular Disorders Research (5 papers) and Genomics and Chromatin Dynamics (4 papers). The work is most often cited by research in Aging (191 citations), Genetics (1.9k citations), Psychiatry and Mental health (927 citations), Molecular Biology (3.1k citations) and Cellular and Molecular Neuroscience (668 citations). Alison E. Gardner has collaborated with scholars based in Australia, United States and United Kingdom. Frequent co-authors include Jozef Gécz, Gabriel Kremmidiotis, Mark A Corbett, John C. Mulley, Samuel Frank Berkovic, David Frederick Callen, Leanne M. Dibbens, Ingrid Eileen Scheffer, Joanna Crawford and Alastair H. MacLennan. Their work appears in journals such as The American Journal of Human Genetics, Nature Genetics, European Journal of Medical Genetics, Human Mutation and Molecular Psychiatry.

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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Alison E. Gardner

Alison E. Gardner's Hit Papers

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