World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
48
Citations
8496
World Ranking
4062
National Ranking
136

Tony Roscioli publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Tony Roscioli sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 179 publications — 42nd percentile

42% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

Tony Roscioli D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Tony Roscioli sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 48 D-Index — 8th percentile

8% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

Overview

Tony Roscioli is affiliated with the University of New South Wales in Australia. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a focus on Genetics and Molecular Biology subfields. Their work also touches on areas including Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health, as well as Cancer Research.

The scientist has contributed to various topics within biomedical research, notably:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic Variations and Chromosomal Abnormalities
  • RNA Modifications and Cancer
  • Epigenetics and DNA Methylation
  • Prenatal Screening and Diagnostics
  • Neurogenetic and Muscular Disorders Research

Several publication venues feature Roscioli's work frequently, including:

  • The American Journal of Human Genetics
  • Genetics in Medicine
  • Human Mutation
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Pathology

Recent papers authored or co-authored by Roscioli include:

  • "Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System" (2020), published in JAMA
  • "Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders" (2021), published in Human Genetics and Genomics Advances
  • "Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis" (2022), published in European Journal of Human Genetics
  • "Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")" (2020), published in European Journal of Human Genetics
  • "Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants" (2021), published in Genetics in Medicine

Frequent collaborators with Tony Roscioli include:

  • Michael F. Buckley
  • Edwin P. Kirk
  • Carey-Anne Evans
  • Sebastian Lunke
  • Kerith-Rae Dias

Best Publications

  • Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

    Frank Rutsch;Nico Ruf;Sucheta Vaingankar;Mohammad R Toliat

  • Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

    Peter M Krawitz;Peter M Krawitz;Michal R Schweiger;Michal R Schweiger;Christian Rödelsperger;Christian Rödelsperger;Carlo Marcelis

  • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  • GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

    Tony Roscioli;Tony Roscioli;Erik-Jan Kamsteeg;Karen Buysse;Isabelle Maystadt

  • Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

    Cindy S. Ma;Cindy S. Ma;Natalie Wong;Geetha Rao;Danielle T. Avery

  • Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Lisa J Ewans;Lisa J Ewans;Deborah Schofield;Deborah Schofield;Deborah Schofield;Rupendra Shrestha;Ying Zhu

  • Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

    Evelyn N. Kouwenhoven;Simon J. van Heeringen;Juan J. Tena;Martin Oti

  • Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system

    Sebastian Lunke;Stefanie Eggers;Meredith Wilson;Chirag Patel

  • Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

    Peter M. Krawitz;Peter M. Krawitz;Yoshiko Murakami;Jochen Hecht;Jochen Hecht;Ulrike Krüger

  • Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

    Karen Buysse;Moniek Riemersma;Gareth Powell;Jeroen van Reeuwijk

  • A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

    Cristina M Justice;Garima Yagnik;Yoonhee Kim;Inga Peter

  • Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

    Mark T Handley;Deborah J Morris-Rosendahl;Stephen Brown;Fiona Macdonald

  • SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

    Simon T. Cliffe;Jamie M. Kramer;Khalid Hussain;Joris H. Robben

  • A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

    Vincenzo A. Gennarino;Vincenzo A. Gennarino;Elizabeth E. Palmer;Elizabeth E. Palmer;Laura M. McDonell;Li Wang;Li Wang

  • MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    P. Makrythanasis;B. W. van Bon;M. Steehouwer;B. Rodriguez-Santiago

  • A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

    Lisa G. Riley;Lisa G. Riley;Mark J. Cowley;Velimir Gayevskiy;Tony Roscioli;Tony Roscioli;Tony Roscioli

  • De novo mutations in PLXND1 and REV3L cause Möbius syndrome

    Laura Tomas-Roca;Laura Tomas-Roca;Anastasia Tsaalbi-Shtylik;Jacob G. Jansen;Manvendra K. Singh;Manvendra K. Singh

  • Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

    Liza L. Cox;Liza L. Cox;Liza L. Cox;Timothy C. Cox;Timothy C. Cox;Timothy C. Cox;Lina M. Moreno Uribe;Ying Zhu

  • Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

    Lisenka E. L. M. Vissers;Timothy C. Cox;A. Murat Maga;Kieran M. Short

Frequent Co-Authors

Mark J. Cowley
Mark J. Cowley Garvan Institute of Medical Research
Marcel E. Dinger
Marcel E. Dinger University of Sydney
David Mowat
David Mowat University of New South Wales
Deborah Schofield
Deborah Schofield Macquarie University
John Christodoulou
John Christodoulou University of Melbourne
Han G. Brunner
Han G. Brunner Radboud University
Hans van Bokhoven
Hans van Bokhoven Radboud University
John S. Mattick
John S. Mattick University of New South Wales
Zornitza Stark
Zornitza Stark University of Melbourne
Elaine H. Zackai
Elaine H. Zackai Children's Hospital of Philadelphia

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Related Online Degrees & Career Pathways

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