Most cited papers from Hunter Genetics

Hunter Genetics

What are the most cited papers from Hunter Genetics?

The most cited paper from Hunter Genetics is "Genome-wide association study identifies novel breast cancer susceptibility loci" (Douglas F. Easton et al., 2007), with 2,342 citations. Next come "Prevalence of fragile X syndrome" (701) and "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation" (622).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 59 papers. Every paper with more than 147 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Genome-wide association study identifies novel breast cancer susceptibility loci Douglas F. Easton et al. · Nature Open access239 authors	27 May 2007	2,342
2	Prevalence of fragile X syndrome GILLIAN M. TURNER, T. Webb, Shannon Jade Wake et al. · American Journal of Medical Genetics	12 Jul 1996	701
3	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Patrick S. Tarpey et al. · Nature Genetics Open access	19 Apr 2009	622
4	The Appropriate Use of Neurostimulation of the Spinal Cord and Peripheral Nervous System for the Treatment of Chronic Pain and Ischemic Diseases: The Neuromodulation Appropriateness Consensus Committee Timothy Ray Deer et al. · Neuromodulation Technology at the Neural Interface	Aug 2014	606
5	The Oral Health Assessment Tool — Validity and reliability JM Chalmers, PL King, AJ Spencer et al. · Australian Dental Journal Open access	Sep 2005	495
6	PAK3 mutation in nonsyndromic X-linked mental retardation Kristina M. Allen, Joseph G. Gleeson, Shubha Bagrodia et al. · Nature Genetics	Sep 1998	477
7	Adverse events in surgical patients in Australia Ashley K. Kable, Robert W Gibberd, Allan D. Spigelman · International Journal for Quality in Health Care	Aug 2002	451
8	Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy Petter Strømme, Marie Mangelsdorf, Marie A Shaw et al. · Nature Genetics	11 Mar 2002	439
9	DNA Damage in Human Spermatozoa Is Highly Correlated with the Efficiency of Chromatin Remodeling and the Formation of 8-Hydroxy-2′-Deoxyguanosine, a Marker of Oxidative Stress1 Geoffry Nunzio De Iuliis, Laura Kelly Thomson, Lisa A. Mitchell et al. · Biology of Reproduction	4 Jun 2009	424
10	Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation Lars Riff Jensen, M Amende, Ulf Gurok et al. · The American Journal of Human Genetics Open access	12 Jan 2005	378
11	Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref‐Eshghi et al. · The American Journal of Human Genetics Open access	27 Feb 2020	346
12	Next-generation sequencing for cancer diagnostics: a practical perspective. Cliff J. Meldrum, Maria Doyle, Richard W. Tothill · PubMed Open access	Nov 2011	337
13	A Novel Bocavirus Associated with Acute Gastroenteritis in Australian Children Jane Arthur, Geoffrey D. Higgins, Geoffrey Paul Davidson et al. · PLoS Pathogens Open access	16 Apr 2009	336
14	Salivary IgA levels and infection risk in elite swimmers Maree Gleeson, WARREN A. MCDONALD, David B. Pyne et al. · Medicine & Science in Sports & Exercise	1999	333
15	Biomarkers of lipid peroxidation, airway inflammation and asthma Lisa G. Wood, Peter G. Gibson, Manohar L. Garg · European Respiratory Journal Open access	2003	326
16	Genome-wide association meta-analysis identifies new endometriosis risk loci Dale R. Nyholt et al. · Nature Genetics Open access	28 Oct 2012	321
17	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hao Yu Hu et al. · Molecular Psychiatry Open access	3 Feb 2015	316
18	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation Patrick S. Tarpey et al. · Nature Genetics Open access	19 Aug 2007	301
19	Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Haloom Rafehi et al. · The American Journal of Human Genetics Open access	20 Jun 2019	291
20	Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation Reinhard Ullmann, GILLIAN M. TURNER, Maria Kirchhoff et al. · Human Mutation Open access	4 May 2007	289
21	Cardiac homeobox gene NKX2-5mutations and congenital heart disease David A. Elliott, Edwin Philip Kirk, Thomas Yeoh et al. · Journal of the American College of Cardiology Open access	Jun 2003	277
22	Cognitive Inflexibility and Pre-frontal Dysfunction in Schizophrenia and Mania Rodney D. Morice · The British Journal of Psychiatry	Jul 1990	276
23	Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship et al. · JAMA Open access	23 Jun 2020	244
24	SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome Gregor D. Gilfillan et al. · The American Journal of Human Genetics Open access	24 Mar 2008	240
25	Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells Erin J. Gardiner, Natalie Jane Beveridge, Jing Qin Wu et al. · Molecular Psychiatry Open access	5 Jul 2011	235
26	Estimating Foodborne Gastroenteritis, Australia Gillian Hall, Martyn Kirk, Niels G. Becker et al. · Emerging infectious diseases Open access	Aug 2005	231
27	Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor Patrick S. Tarpey et al. · The American Journal of Human Genetics Open access	19 Jan 2007	230
28	One-Year Outcomes of Spinal Cord Stimulation of the Dorsal Root Ganglion in the Treatment of Chronic Neuropathic Pain Liong Liem, Marc A. Russo, Frank J.P.M. Huygen et al. · Neuromodulation Technology at the Neural Interface Open access	21 Aug 2014	228
29	Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation Guy Froyen et al. · The American Journal of Human Genetics Open access	28 Jan 2008	227
30	Teratogen update: Gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans John M. Graham, Matthew J. Edwards, Marshall J. Edwards · Teratology	Nov 1998	223
31	Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 Mary L. Marazita et al. · The American Journal of Human Genetics ReviewOpen access	29 Jun 2004	223
32	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Tianyun Wang et al. · Nature Communications Open access235 authors	Oct 2020	222
33	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome David A. Koolen et al. · Journal of Medical Genetics Open access	15 Jul 2008	221
34	Fragile X syndrome without CCG amplification has an FMR1 deletion Ági K. Gedeon, Emma K. Baker, Harriet L. Robinson et al. · Nature Genetics	Aug 1992	220
35	Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome Karen M. Lower et al. · Nature Genetics	4 Nov 2002	218
36	Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders Lisa Ewans et al. · Genetics in Medicine Open access	29 Mar 2018	203
37	Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability Detelina Grozeva et al. · Human Mutation Open access	9 Sep 2015	203
38	Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds Rodney J. Scott, Mary L. McPhillips, Cliff J. Meldrum et al. · The American Journal of Human Genetics Open access	2001	202
39	An enriched environment increases activity in stroke patients undergoing rehabilitation in a mixed rehabilitation unit: a pilot non-randomized controlled trial Heidi Janssen, Louise Ada, Julie A Bernhardt et al. · Disability and Rehabilitation	29 Apr 2013	200
40	Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy Richard D. Bagnall, Jodie Ingles, Marcel E. Dinger et al. · Journal of the American College of Cardiology Open access	Jul 2018	195
41	Persistent Spinal Pain Syndrome: A Proposal for Failed Back Surgery Syndrome and ICD-11 Nick Christelis et al. · Pain Medicine Open access	19 Jan 2021	186
42	Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation Patrick S. Tarpey et al. · The American Journal of Human Genetics Open access	29 Jun 2004	178
43	De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković et al. · The American Journal of Human Genetics Open access	27 Mar 2014	178
44	YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Michele Gabriele et al. · The American Journal of Human Genetics Open access	Jun 2017	174
45	Music and dementia Amee Baird, Séverine Samson · Progress in brain research Book chapter	2015	174
46	Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation Vera M. Kalscheuer et al. · Nature Genetics Open access	23 Nov 2003	172
47	Characteristics of a Widespread Community Cluster of H275Y Oseltamivir-Resistant A(H1N1)pdm09 Influenza in Australia Aeron C. Hurt et al. · The Journal of Infectious Diseases Open access	4 May 2012	170
48	Common variants at 6p21.1 are associated with large artery atherosclerotic stroke The Australian Stroke Genetics Collaborative et al. · Nature Genetics Open access	2 Sep 2012	169
49	Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter et al. · Orphanet Journal of Rare Diseases Open access	17 Sep 2012	164
50	Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome Marry H. Nieuwenhuis, C. Marleen Kets, Maureen Murphy‐Ryan et al. · Familial Cancer Open access	10 Aug 2013	163

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.