World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
81
Citations
31121
World Ranking
1504
National Ranking
704

Heather C. Mefford 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 Heather C. Mefford 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: 665 publications — 97th percentile

97% of scientists in this discipline score the same or lower.

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

Heather C. Mefford 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 Heather C. Mefford 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: 81 D-Index — 66th percentile

66% of scientists in this discipline score the same or lower.

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

Overview

Heather C. Mefford is affiliated with the University of Washington in the United States. Their research primarily focuses on the fields of Biochemistry, Genetics, and Molecular Biology, with substantial contributions to Medicine. Their work spans several key subfields including Genetics, Molecular Biology, Psychiatry and Mental Health, Cell Biology, and Pediatrics, Perinatology, and Child Health.

The main topics covered in Mefford's research include:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic Variations and Chromosomal Abnormalities
  • Epilepsy Research and Treatment
  • Congenital Heart Defects Research
  • Metabolism and Genetic Disorders
  • Pharmacological Effects and Toxicity Studies

Their recent selected publications highlight a focus on epilepsy and genetic disorders. These include:

  • Targeted long-read sequencing identifies missing disease-causing variation, 2021, The American Journal of Human Genetics
  • Recent advances in epilepsy genomics and genetic testing, 2020, F1000Research
  • The severe epilepsy syndromes of infancy: A population-based study, 2021, Epilepsia
  • ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria, 2021, Brain
  • Developmental and epileptic encephalopathies, 2024, Nature Reviews Disease Primers

Frequently publishing in the following venues, Mefford's work has appeared most often in:

  • Faculty Opinions - Post-Publication Peer Review of the Biomedical Literature
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Epilepsia
  • The American Journal of Human Genetics

Collaboration is a part of Mefford's research approach, with frequent co-authors including:

  • Ingrid E. Scheffer
  • Gemma L. Carvill
  • Lynette G. Sadleir
  • Alison M. Muir
  • Gaëtan Lesca

Best Publications

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • De novo mutations in epileptic encephalopathies

    Andrew S. Allen;Samuel F. Berkovic;Patrick Cossette;Norman Delanty

  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

    Brian J. O’Roak;Laura Vives;Wenqing Fu;Jarrett D. Egertson

  • SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

    Brett S Abrahams;Dan E Arking;Daniel B Campbell;Heather C Mefford

  • Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman

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

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

  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Gemma L Carvill;Sinéad B Heavin;Simone C Yendle;Jacinta M McMahon

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  • Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

    Andy Itsara;Gregory M. Cooper;Carl Baker;Santhosh Girirajan

  • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

    Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  • Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak

  • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Genomics, Intellectual Disability, and Autism

    Heather C. Mefford;Mark L. Batshaw;Eric P. Hoffman

  • GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    Gemma L. Carvill;Brigid M. Regan;Simone C. Yendle;Brian J. O'Roak

  • The complex structure and dynamic evolution of human subtelomeres.

    Heather C. Mefford;Barbara J. Trask

  • Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    B W M van Bon;H C Mefford;B Menten;D A Koolen

  • Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    F.D. Hannes;A.J. Sharp;H.C. Mefford;T. de Ravel

Frequent Co-Authors

Thomas D. Bird
Thomas D. Bird University of Washington
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Evan E. Eichler
Evan E. Eichler University of Washington
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne
Lynette G. Sadleir
Lynette G. Sadleir University of Otago
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Sarah Weckhuysen
Sarah Weckhuysen University of Antwerp
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1

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