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Erik G. Puffenberger

D-Index & Metrics

Biology and Biochemistry

D-Index
53
Citations
12911
World Ranking
16009
National Ranking
6646

Erik G. Puffenberger publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Erik G. Puffenberger sits on this spectrum.

47–56 publications: 8 scientists 57–66 publications: 35 scientists 67–76 publications: 106 scientists 77–86 publications: 231 scientists 87–96 publications: 414 scientists 97–106 publications: 546 scientists 107–116 publications: 704 scientists 117–126 publications: 849 scientists 127–136 publications: 980 scientists 137–146 publications: 942 scientists 147–156 publications: 969 scientists 157–166 publications: 950 scientists 167–176 publications: 951 scientists 177–186 publications: 915 scientists 187–196 publications: 787 scientists 197–206 publications: 841 scientists 207–216 publications: 735 scientists 217–226 publications: 709 scientists 227–236 publications: 651 scientists 237–246 publications: 605 scientists 247–256 publications: 510 scientists 257–266 publications: 524 scientists 267–276 publications: 434 scientists 277–286 publications: 418 scientists 287–296 publications: 350 scientists 297–306 publications: 363 scientists 307–316 publications: 315 scientists 317–326 publications: 296 scientists 327–336 publications: 261 scientists 337–346 publications: 240 scientists 347–356 publications: 219 scientists 357–366 publications: 197 scientists 367–376 publications: 154 scientists 377–386 publications: 161 scientists 387–396 publications: 155 scientists 397–406 publications: 145 scientists 407–416 publications: 124 scientists 417–426 publications: 112 scientists 427–436 publications: 132 scientists 437–446 publications: 116 scientists 447–456 publications: 99 scientists 457–466 publications: 81 scientists 467–476 publications: 91 scientists 477–486 publications: 80 scientists 487–496 publications: 80 scientists 497–506 publications: 60 scientists 507–516 publications: 36 scientists 517–526 publications: 46 scientists 527–536 publications: 54 scientists 537–546 publications: 44 scientists 547–556 publications: 43 scientists 557–566 publications: 43 scientists 567–576 publications: 42 scientists 577–586 publications: 25 scientists 587–596 publications: 34 scientists 597–606 publications: 23 scientists 607–616 publications: 33 scientists 617–626 publications: 31 scientists 627–636 publications: 27 scientists 637–646 publications: 25 scientists 647–656 publications: 28 scientists 657–666 publications: 34 scientists 667–676 publications: 18 scientists 677–686 publications: 16 scientists 687–696 publications: 10 scientists 697–706 publications: 12 scientists 707–716 publications: 21 scientists 717–726 publications: 12 scientists 727–736 publications: 12 scientists 737–746 publications: 10 scientists 747–756 publications: 7 scientists 757–766 publications: 13 scientists 767–776 publications: 15 scientists 777–786 publications: 13 scientists 787–796 publications: 9 scientists 797–806 publications: 9 scientists 807–816 publications: 7 scientists 817–826 publications: 4 scientists 827–836 publications: 9 scientists 837–846 publications: 7 scientists 847–856 publications: 3 scientists 857–866 publications: 5 scientists 867–876 publications: 5 scientists 877–886 publications: 11 scientists 887–896 publications: 3 scientists 897–906 publications: 4 scientists 907–916 publications: 7 scientists 917–926 publications: 5 scientists 927–936 publications: 6 scientists 937–946 publications: 6 scientists 947–956 publications: 3 scientists 957–966 publications: 7 scientists 967–976 publications: 2 scientists 977–986 publications: 2 scientists 987–996 publications: 1 scientists 997–1,006 publications: 5 scientists 1,007–1,016 publications: 2 scientists 1,017–1,026 publications: 2 scientists 1,027 publications: 1 scientists 1,028+ publications: 100 scientists
47 publications 1,028+

This scientist: 113 publications — 9th percentile

9% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 1,028 publications or more.

Erik G. Puffenberger D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Erik G. Puffenberger sits on this spectrum.

40–41 D-Index: 80 scientists 42–43 D-Index: 183 scientists 44–45 D-Index: 317 scientists 46–47 D-Index: 504 scientists 48–49 D-Index: 718 scientists 50–51 D-Index: 900 scientists 52–53 D-Index: 1,026 scientists 54–55 D-Index: 1,150 scientists 56–57 D-Index: 1,236 scientists 58–59 D-Index: 1,253 scientists 60–61 D-Index: 1,163 scientists 62–63 D-Index: 1,131 scientists 64–65 D-Index: 1,032 scientists 66–67 D-Index: 897 scientists 68–69 D-Index: 814 scientists 70–71 D-Index: 715 scientists 72–73 D-Index: 709 scientists 74–75 D-Index: 596 scientists 76–77 D-Index: 512 scientists 78–79 D-Index: 473 scientists 80–81 D-Index: 412 scientists 82–83 D-Index: 373 scientists 84–85 D-Index: 358 scientists 86–87 D-Index: 285 scientists 88–89 D-Index: 273 scientists 90–91 D-Index: 227 scientists 92–93 D-Index: 208 scientists 94–95 D-Index: 193 scientists 96–97 D-Index: 153 scientists 98–99 D-Index: 157 scientists 100–101 D-Index: 148 scientists 102–103 D-Index: 120 scientists 104–105 D-Index: 113 scientists 106–107 D-Index: 100 scientists 108–109 D-Index: 86 scientists 110–111 D-Index: 67 scientists 112–113 D-Index: 72 scientists 114–115 D-Index: 73 scientists 116–117 D-Index: 64 scientists 118–119 D-Index: 53 scientists 120–121 D-Index: 60 scientists 122–123 D-Index: 54 scientists 124–125 D-Index: 43 scientists 126–127 D-Index: 38 scientists 128–129 D-Index: 49 scientists 130–131 D-Index: 26 scientists 132–133 D-Index: 18 scientists 134–135 D-Index: 23 scientists 136–137 D-Index: 32 scientists 138–139 D-Index: 32 scientists 140–141 D-Index: 27 scientists 142–143 D-Index: 19 scientists 144–145 D-Index: 22 scientists 146–147 D-Index: 12 scientists 148–149 D-Index: 16 scientists 150–151 D-Index: 14 scientists 152–153 D-Index: 10 scientists 154–155 D-Index: 13 scientists 156–157 D-Index: 10 scientists 158–159 D-Index: 7 scientists 160–161 D-Index: 9 scientists 162–163 D-Index: 13 scientists 164–165 D-Index: 4 scientists 166 D-Index: 4 scientists 167+ D-Index: 98 scientists
40 D-Index 167+

This scientist: 53 D-Index — 19th percentile

19% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 167 D-Index or more.

Overview

Erik G. Puffenberger is affiliated with the Clinic for Special Children in the United States. Their research primarily focuses on biochemistry, genetics, and molecular biology, with a significant number of publications related to genetics and molecular biology. The main subfields of study include genetics, molecular biology, surgery, clinical biochemistry, and plant science.

Their work extensively covers topics such as genomics and rare diseases, genetics and neurodevelopmental disorders, metabolism and genetic disorders, genomic variations and chromosomal abnormalities, epigenetics and DNA methylation, agriculture and farm safety, and biochemical and molecular research.

Frequent coauthors in their research collaborations are:

  • Karlla W. Brigatti
  • Kevin A. Strauss
  • Claudia Gonzaga-Jauregui
  • Toni I. Pollin
  • Zineb Ammous

Notable publication venues where their research appears include:

  • Molecular Genetics and Metabolism
  • American Journal of Medical Genetics Part A
  • Genetics in Medicine
  • Brain
  • The American Journal of Human Genetics

Recent papers authored or coauthored by Erik G. Puffenberger demonstrate a focus on genetic metabolic disorders and neurodevelopmental conditions. These papers include:

  • Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes, 2020, Molecular Genetics and Metabolism
  • Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades, 2020, Molecular Genetics and Metabolism
  • Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group, 2023, Genetics in Medicine
  • NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold, 2022, Brain
  • De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy, 2021, The American Journal of Human Genetics

Best Publications

  • Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

    Harry C. Dietz;Carry R. Cutting;Reed E. Pyeritz;Cheryl L. Maslen

  • A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

    Erik G. Puffenberger;Kiminori Hosoda;Sarah S. Washington;Kazuwa Nakao

  • Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

    Kevin A. Strauss;Erik G. Puffenberger;Matthew J. Huentelman;Steven Gottlieb

  • Type I glutaric aciduria, part 1: Natural history of 77 patients

    Kevin A. Strauss;Erik G. Puffenberger;Donna L. Robinson;D. Holmes Morton

  • Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

    Victoria E. H. Carlton;Baruch Z. Harris;Erik G. Puffenberger;A. K. Batta

  • Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

    D. Holmes Morton;Kevin A. Strauss;Donna L. Robinson;Erik G. Puffenberger

  • Genetic mapping and exome sequencing identify variants associated with five novel diseases.

    Erik G. Puffenberger;Erik G. Puffenberger;Robert N. Jinks;Carrie Sougnez;Kristian Cibulskis

  • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

    Minerva M. Carrasquillo;Andrew S. McCallion;Erik G. Puffenberger;Carl S. Kashuk

  • Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

    Erik G.Puffenberger;Erick R.Kauffman;Stacey Bolk;Tara C.Matise

  • Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

    Misha Angrist;Stacey Bolk;Bonnie Thiel;Erik G. Puffenberger

  • Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

    Huiling He;Sandya Liyanarachchi;Keiko Akagi;Rebecca Nagy

  • Classical maple syrup urine disease and brain development: Principles of management and formula design

    Kevin A. Strauss;Kevin A. Strauss;Kevin A. Strauss;Bridget Wardley;Donna Robinson;Christine Hendrickson

  • Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    Kym M. Boycott;Chandree L. Beaulieu;Kristin D. Kernohan;Ola H. Gebril

  • Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

    Naomi J. Lohr;Jean P. Molleston;Kevin A. Strauss;Kevin A. Strauss;Kevin A. Strauss;Wilfredo Torres-Martinez

  • Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

    Harry C. Dietz;Reed E. Pyeritz;Erik G. Puffenberger;Raymond J. Kendzior

  • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

    Misha Angrist;Erick Kauffman;Susan A. Slaugenhaupt;Susan A. Slaugenhaupt;Tara Cox Matise

  • Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.

    Kevin A. Strauss;Donna L. Robinson;Hendrik J. Vreman;Erik G. Puffenberger

  • Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

    Erik G. Puffenberger;Diane Hu-Lince;Jennifer M. Parod;David W. Craig

  • Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes

    Sarah H. Shaw;Minerva M. Carrasquillo;Carl Kashuk;Erik G. Puffenberger

  • Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

    David W Craig;Matthew J Huentelman;Diane Hu-Lince;Victoria L Zismann

Frequent Co-Authors

Aravinda Chakravarti
Aravinda Chakravarti New York University Langone Medical Center
Richard I. Kelley
Richard I. Kelley Kennedy Krieger Institute
A. Micheil Innes
A. Micheil Innes University of Calgary
Kym M. Boycott
Kym M. Boycott Children's Hospital of Eastern Ontario
Dietrich A. Stephan
Dietrich A. Stephan NeuBase Therapeutics
Robert A. Hegele
Robert A. Hegele University of Western Ontario
David Craig
David Craig University of Southern California
George V. Mazariegos
George V. Mazariegos Children's Hospital of Pittsburgh
Sheikh Riazuddin
Sheikh Riazuddin University of Health Sciences Lahore
S. Harvey Mudd
S. Harvey Mudd MRC Laboratory of Molecular Biology

External Links

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Best Scientists Citing Erik G. Puffenberger

Paul K.H. Tam

Paul K.H. Tam

Macau University of Science and Technology

Publications: 45

Stanislas Lyonnet

Stanislas Lyonnet

Université Paris Cité

Publications: 43

Jeanne Amiel

Jeanne Amiel

Université Paris Cité

Publications: 36

Daniel H. Geschwind

Daniel H. Geschwind

University of California, Los Angeles

Publications: 36

Robert M.W. Hofstra

Robert M.W. Hofstra

Erasmus University Rotterdam

Publications: 36

Aravinda Chakravarti

Aravinda Chakravarti

New York University Langone Medical Center

Publications: 36

Isabella Ceccherini

Isabella Ceccherini

University of Genoa

Publications: 30

Moacir Wajner

Moacir Wajner

Federal University of Rio Grande do Sul

Publications: 30

Georg F. Hoffmann

Georg F. Hoffmann

University Hospital Heidelberg

Publications: 28

Charis Eng

Charis Eng

Cleveland Clinic Lerner College of Medicine

Publications: 27

William B. Dobyns

William B. Dobyns

University of Minnesota

Publications: 26

Fowzan S. Alkuraya

Fowzan S. Alkuraya

Alfaisal University

Publications: 26

Matthew W. State

Matthew W. State

University of California, San Francisco

Publications: 20

Pak C. Sham

Pak C. Sham

University of Hong Kong

Publications: 20

Douglas C. Wallace

Douglas C. Wallace

Children's Hospital of Philadelphia

Publications: 20

Mark J. Daly

Mark J. Daly

Massachusetts General Hospital

Publications: 19

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University of Twente

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