World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
48
Citations
9648
World Ranking
4056
National Ranking
463

Diana Baralle 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 Diana Baralle 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: 175 publications — 41st percentile

41% of scientists in this discipline score the same or lower.

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

Diana Baralle 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 Diana Baralle 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

Diana Baralle is affiliated with the University of Southampton in the United Kingdom. Their research spans a broad spectrum within biochemistry, genetics, and molecular biology, with contributions also relevant to medicine, focusing on molecular biology, genetics, neurology, infectious diseases, and cell biology.

The main topics they investigate include:

  • Genomics and rare diseases
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • Genetics and neurodevelopmental disorders
  • RNA research and splicing
  • RNA and protein synthesis mechanisms
  • CRISPR and genetic engineering

Their recent publications reflect active engagement with molecular genetics and clinical diagnostic standards. Key papers include:

  • "Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation" (2021) published in Genetics in Medicine
  • "Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation" (2022) published in Genetics in Medicine
  • "Recommendations for clinical interpretation of variants found in non-coding regions of the genome" (2022) published in Genome Medicine
  • "A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection" (2021) published in Nature Genetics
  • "Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders" (2020) published in The American Journal of Human Genetics

Baralle frequently publishes in several scientific venues. The most common publication outlets include:

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

Collaboration is a significant aspect of their scientific activity. Their frequent co-authors include:

  • Jenny Lord
  • Htoo A. Wai
  • Andrew G. L. Douglas
  • Anne O'Donnell-Luria
  • Heidi L. Rehm

Best Publications

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

    Jacquelyn Bond;Emma Roberts;Kelly Springell;Sophia Lizarraga

  • Splicing in action: assessing disease causing sequence changes

    D Baralle;M Baralle

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

    E Legius;L Messiaen;P Wolkenstein;P Pancza

  • An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

    M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  • Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

    Katrina Tatton-Brown;Sheila Seal;Elise Ruark;Jenny Harmer

  • Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

    Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  • Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

    Jill Yardley;Bart P Leroy;Niki Hart-Holden;Bart A Lafaut

  • Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

    Michela Raponi;Jana Kralovicova;Ellen Copson;Petr Divina

  • A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.

    Cornelia Blume;Cornelia Blume;Claire L. Jackson;Claire L. Jackson;Cosma Mirella Spalluto;Jelmer Legebeke

  • Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

    Diana Baralle;Anneke Lucassen;Emanuele Buratti

  • Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

    Htoo A Wai;Jenny Lord;Matthew Lyon;Adam Gunning

  • Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

    W P Whitehouse;M Rees;D Curtis;A Sundqvist

  • RNA splicing in human disease and in the clinic.

    Diana Baralle;Emanuele Buratti

  • Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

    Mara Colombo;Marinus J. Blok;Phillip Whiley;Phillip Whiley;Marta Santamarina

  • King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

    James J. Dowling;Suzanne Lillis;Kimberley Amburgey;Haiyan Zhou

  • Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

    M Baralle;D Baralle;L De Conti;C Mattocks

  • hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes

    Emanuele Buratti;Marco Baralle;Laura De Conti;Diana Baralle

Frequent Co-Authors

Emanuele Buratti
Emanuele Buratti International Centre for Genetic Engineering and Biotechnology
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Charles ffrench-Constant
Charles ffrench-Constant University of Edinburgh
I. Karen Temple
I. Karen Temple University of Southampton
Han G. Brunner
Han G. Brunner Radboud University
Meena Upadhyaya
Meena Upadhyaya Cardiff University
Conxi Lázaro
Conxi Lázaro Institut d'Investigació Biomédica de Bellvitge
Graeme C.M. Black
Graeme C.M. Black University of Manchester
Fan Xia
Fan Xia Baylor College of Medicine
Miguel de la Hoya
Miguel de la Hoya Hospital Clínico San Carlos

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