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Institution · Victorian Clinical Genetics Services

Most cited papers from Victorian Clinical Genetics Services

Victorian Clinical Genetics Services

What are the most cited papers from Victorian Clinical Genetics Services?

The most cited paper from Victorian Clinical Genetics Services is "Genome-wide association study identifies novel breast cancer susceptibility loci" (Douglas F. Easton et al., 2007), with 2,342 citations. Next come "Genetic heterogeneity in osteogenesis imperfecta." (2,261) and "A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology" (2,040).

Showing 50 of 60 papers. Every paper with more than 204 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 Genetic heterogeneity in osteogenesis imperfecta. David Owen Sillence, A Senn, D. M. Danks · Journal of Medical Genetics Open access Apr 1979 2,261
3 A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology David J. Pagliarini, Sarah E. Calvo, Betty Y Chang et al. · Cell Open access Jul 2008 2,040
4 Mitochondrial diseases Gráinne S. Gorman, Patrick Francis Chinnery, Salvatore DiMauro et al. · Nature Reviews Disease Primers Review 20 Oct 2016 1,621
5 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva Eileen Malko Shore, Meiqi Xu, George J. Feldman et al. · Nature Genetics 23 Apr 2006 1,243
6 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Gillian Rice et al. · Nature Genetics Open access 23 Sep 2012 967
7 Detecting cervical precancer and reaching underscreened women by using HPV testing on self samples: updated meta-analyses Marc Arbyn, Sara Boblick Smith, Sarah Temin et al. · BMJ Open access 5 Dec 2018 906
8 Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Dong-Chuan Guo et al. · Nature Genetics 11 Nov 2007 859
9 The Epidemiology of Childhood Cardiomyopathy in Australia Alan William Nugent, Piers E.F. Daubeney, Patty Chondros et al. · New England Journal of Medicine Open access 23 Apr 2003 789
10 Mutation of FOXL2 in Granulosa-Cell Tumors of the Ovary Sohrab P. Shah et al. · New England Journal of Medicine Open access 10 Jun 2009 779
11 Evidence for 28 genetic disorders discovered by combining healthcare and research data Joanna Kaplanis et al. · Nature Open access282 authors 14 Oct 2020 698
12 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Gillian Rice et al. · Nature Genetics Open access 14 Jun 2009 697
13 Accessory subunits are integral for assembly and function of human mitochondrial complex I David A. Stroud, Elliot E. Surgenor, Luke E. Formosa et al. · Nature Open access 13 Sep 2016 668
14 Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1 Yanick Joseph Crow et al. · American Journal of Medical Genetics Part A Open access136 authors 16 Jan 2015 617
15 Early effect of the HPV vaccination programme on cervical abnormalities in Victoria, Australia: an ecological study Julia M.L. Brotherton, Masha Fridman, Cathryn L. May et al. · The Lancet Jun 2011 598
16 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A.F. Stessman et al. · Nature Genetics Open access 13 Feb 2017 591
17 Leigh syndrome: One disorder, more than 75 monogenic causes Nicole J. Lake, Alison G. Compton, Shamima Rahman et al. · Annals of Neurology Open access 28 Oct 2015 511
18 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database on behalf of InSiGHT et al. · Nature Genetics Open access 22 Dec 2013 484
19 Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine Open access 25 Jan 2012 480
20 Osteopetrosis Zornitza Stark, Ravi Savarirayan · Orphanet Journal of Rare Diseases Open access 20 Feb 2009 469
21 Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis Jan Hellemans et al. · Nature Genetics 17 Oct 2004 468
22 Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients Matthew McKenzie, Michael Lazarou, David R. Thorburn et al. · Journal of Molecular Biology Open access 7 Jul 2006 434
23 Understanding mitochondrial complex I assembly in health and disease Masakazu Mimaki, Xiaonan Wang, Matthew McKenzie et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics Open access 3 Sep 2011 433
24 Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study Jane L. Halliday, Kay Oke, Sue Breheny et al. · The American Journal of Human Genetics Open access 3 Aug 2004 430
25 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort Stefanie Eggers et al. · Genome biology Open access 29 Nov 2016 409
26 The Global State of the Genetic Counseling Profession Mary Ann R. Abacan et al. · European Journal of Human Genetics Open access 5 Oct 2018 376
27 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics Open access 5 Sep 2010 364
28 Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans Joyce C. H. van de Leemput et al. · PLoS Genetics Open access 14 Jun 2007 350
29 Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions Tiong Yang Tan et al. · Archives of Pediatrics and Adolescent Medicine Open access 31 Jul 2017 342
30 Diagnosis and management of glutaric aciduria type I – revised recommendations Stefan Kölker, Ernst Christensen, James V. Leonard et al. · Journal of Inherited Metabolic Disease Open access 22 Mar 2011 331
31 Safety and Efficacy of Omaveloxolone in Friedreich Ataxia ( MOXIe Study) David R. Lynch, Melanie P. Chin, Martin B. Delatycki et al. · Annals of Neurology Open access 17 Oct 2020 325
32 Effect of study design and quality on unsatisfactory rates, cytology classifications, and accuracy in liquid-based versus conventional cervical cytology: a systematic review ELIZABETH A. DAVEY, Alexandra L Barratt, Les Irwig et al. · The Lancet Review 2006 320
33 RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Nicole Revençu et al. · Human Mutation Open access 29 Aug 2013 298
34 Assessing Executive Function in Preschoolers Peter J. Anderson, Natalie Reidy · Neuropsychology Review Open access 29 Oct 2012 296
35 Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals Emilia K. Bijlsma et al. · European Journal of Medical Genetics Mar 2009 294
36 Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology Gabrielle R.A. Wilson et al. · The American Journal of Human Genetics Open access 26 Nov 2014 282
37 Respiratory chain complex I deficiency Denise M. Kirby, Megan Crawford, Maureen Cleary et al. · Neurology Apr 1999 271
38 Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology Ann E. Frazier, David R. Thorburn, Alison G. Compton · Journal of Biological Chemistry Open access 12 Dec 2017 269
39 Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I Michael Lazarou, Matthew McKenzie, Akira Ohtake et al. · Molecular and Cellular Biology Open access 17 Apr 2007 269
40 Mitochondrial disorders: Prevalence, myths and advances David R. Thorburn · Journal of Inherited Metabolic Disease May 2004 262
41 Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair Bruno Vaz, Marta Popović, Joseph A. Newman et al. · Molecular Cell Open access 27 Oct 2016 257
42 Mutations in PYCR1 cause cutis laxa with progeroid features Bruno Reversade et al. · Nature Genetics 2 Aug 2009 255
43 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia Esther Meyer et al. · Nature Genetics Open access 19 Dec 2016 254
44 EUROGIN 2011 roadmap on prevention and treatment of HPV‐related disease Marc Arbyn, Silvia de Sanjosé, Mona Saraiya et al. · International Journal of Cancer Open access 24 May 2012 254
45 Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features Davor Lessel et al. · Nature Genetics Open access 28 Sep 2014 248
46 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
47 Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays APSU Rare Diseases Impacts on Families Study group, Yvonne A. Zurynski, Marie Deverell et al. · Orphanet Journal of Rare Diseases Open access 11 Apr 2017 244
48 Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome Vincent Laugel et al. · Human Mutation Open access 5 Nov 2009 234
49 Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X‐autosome translocations: A review of 122 cases Malgorzata Schmidt, Desirée du Sart · American Journal of Medical Genetics 15 Jan 1992 229
50 Genomic newborn screening for rare diseases Zornitza Stark, Richard H. Scott · Nature Reviews Genetics Review 29 Jun 2023 228

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.