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Erik G. Puffenberger

D-Index & Metrics

Discipline name D-Index World Ranking Current World Ranking National Ranking Current National Ranking Publications Citations
Biology and Biochemistry 53 16002 14689 6643 5936 113 12911

Erik G. Puffenberger publications per year

The chart shows the history of publications by Erik G. Puffenberger between 1991 and 2025, highlighting the no. of papers published in each year and offering an overview of the publication velocity of this scholar. Erik G. Puffenberger published across 35 years, from 1991 to 2025, averaging 3.7 papers a year. Output peaked at 20 publications in 2013. 6 of the 128 publications appeared in the last two years.

No. of publications
5 10 15 20
Bar chart. Horizontal axis: year, 1991 to 2025. Vertical axis: number of publications, 0 to 20. Peak 20 publications in 2013. 1991: 1 publication 1992: 2 publications 1993: 1 publication 1994: 3 publications 1995: 1 publication 1996: 0 publications 1997: 0 publications 1998: 1 publication 1999: 1 publication 2000: 1 publication 2001: 0 publications 2002: 3 publications 2003: 4 publications 2004: 1 publication 2005: 3 publications 2006: 3 publications 2007: 5 publications 2008: 4 publications 2009: 4 publications 2010: 6 publications 2011: 8 publications 2012: 3 publications 2013: 20 publications 2014: 3 publications 2015: 7 publications 2016: 4 publications 2017: 4 publications 2018: 5 publications 2019: 3 publications 2020: 7 publications 2021: 8 publications 2022: 4 publications 2023: 2 publications 2024: 0 publications 2025: 6 publications
1991 2025

128 publications in total across all disciplines

View publications per year as a table
Erik G. Puffenberger: publications per year, 1991 to 2025
Year Publications
1991 1
1992 2
1993 1
1994 3
1995 1
1996 0
1997 0
1998 1
1999 1
2000 1
2001 0
2002 3
2003 4
2004 1
2005 3
2006 3
2007 5
2008 4
2009 4
2010 6
2011 8
2012 3
2013 20
2014 3
2015 7
2016 4
2017 4
2018 5
2019 3
2020 7
2021 8
2022 4
2023 2
2024 0
2025 6
Total 128
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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.

No. of scientists
200 400 600 800
Bar chart with 100 bars. Horizontal axis: publications, 47–56 to 1,028+. Vertical axis: number of scientists, 0 to 980. Most scientists, 980, have 127–136 publications. The last bar groups every scientist with 1,028 publications or more. The highlighted bar, 107–116 publications, is where this scientist sits. 47–56 publications: 8 scientists 57–66 publications: 35 scientists 67–76 publications: 106 scientists 77–86 publications: 231 scientists 87–96 publications: 413 scientists 97–106 publications: 546 scientists 107–116 publications: 704 scientists 117–126 publications: 848 scientists 127–136 publications: 980 scientists 137–146 publications: 942 scientists 147–156 publications: 969 scientists 157–166 publications: 949 scientists 167–176 publications: 951 scientists 177–186 publications: 915 scientists 187–196 publications: 787 scientists 197–206 publications: 840 scientists 207–216 publications: 733 scientists 217–226 publications: 708 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: 417 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: 196 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: 59 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 scientist 997–1,006 publications: 5 scientists 1,007–1,016 publications: 2 scientists 1,017–1,026 publications: 2 scientists 1,027 publications: 1 scientist 1,028+ publications: 100 scientists
47–56 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.

View publications distribution as a table
Number of Biology and Biochemistry scientists by publication count, Research.com 2026 ranking edition. Based on 19,587 ranked scientists.
Publications Scientists This scientist
47–56 8
57–66 35
67–76 106
77–86 231
87–96 413
97–106 546
107–116 704 113
117–126 848
127–136 980
137–146 942
147–156 969
157–166 949
167–176 951
177–186 915
187–196 787
197–206 840
207–216 733
217–226 708
227–236 651
237–246 605
247–256 510
257–266 524
267–276 434
277–286 417
287–296 350
297–306 363
307–316 315
317–326 296
327–336 261
337–346 240
347–356 219
357–366 196
367–376 154
377–386 161
387–396 155
397–406 145
407–416 124
417–426 112
427–436 132
437–446 116
447–456 99
457–466 81
467–476 91
477–486 80
487–496 80
497–506 59
507–516 36
517–526 46
527–536 54
537–546 44
547–556 43
557–566 43
567–576 42
577–586 25
587–596 34
597–606 23
607–616 33
617–626 31
627–636 27
637–646 25
647–656 28
657–666 34
667–676 18
677–686 16
687–696 10
697–706 12
707–716 21
717–726 12
727–736 12
737–746 10
747–756 7
757–766 13
767–776 15
777–786 13
787–796 9
797–806 9
807–816 7
817–826 4
827–836 9
837–846 7
847–856 3
857–866 5
867–876 5
877–886 11
887–896 3
897–906 4
907–916 7
917–926 5
927–936 6
937–946 6
947–956 3
957–966 7
967–976 2
977–986 2
987–996 1
997–1,006 5
1,007–1,016 2
1,017–1,026 2
1,027 1
1,028+ 100
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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.

No. of scientists
250 500 750 1,000 1,250
Bar chart with 65 bars. Horizontal axis: D-Index, 40–41 to 167+. Vertical axis: number of scientists, 0 to 1,253. Most scientists, 1,253, have 58–59 D-Index. The last bar groups every scientist with 167 D-Index or more. The highlighted bar, 52–53 D-Index, is where this scientist sits. 40–41 D-Index: 80 scientists 42–43 D-Index: 183 scientists 44–45 D-Index: 316 scientists 46–47 D-Index: 504 scientists 48–49 D-Index: 718 scientists 50–51 D-Index: 899 scientists 52–53 D-Index: 1,025 scientists 54–55 D-Index: 1,149 scientists 56–57 D-Index: 1,235 scientists 58–59 D-Index: 1,253 scientists 60–61 D-Index: 1,162 scientists 62–63 D-Index: 1,130 scientists 64–65 D-Index: 1,031 scientists 66–67 D-Index: 897 scientists 68–69 D-Index: 814 scientists 70–71 D-Index: 714 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: 71 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
40–41 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.

View D-Index distribution as a table
Number of Biology and Biochemistry scientists by D-index, Research.com 2026 ranking edition. Based on 19,587 ranked scientists.
D-Index Scientists This scientist
40–41 80
42–43 183
44–45 316
46–47 504
48–49 718
50–51 899
52–53 1,025 53
54–55 1,149
56–57 1,235
58–59 1,253
60–61 1,162
62–63 1,130
64–65 1,031
66–67 897
68–69 814
70–71 714
72–73 709
74–75 596
76–77 512
78–79 473
80–81 412
82–83 373
84–85 358
86–87 285
88–89 273
90–91 227
92–93 208
94–95 193
96–97 153
98–99 157
100–101 148
102–103 120
104–105 113
106–107 100
108–109 86
110–111 67
112–113 71
114–115 73
116–117 64
118–119 53
120–121 60
122–123 54
124–125 43
126–127 38
128–129 49
130–131 26
132–133 18
134–135 23
136–137 32
138–139 32
140–141 27
142–143 19
144–145 22
146–147 12
148–149 16
150–151 14
152–153 10
154–155 13
156–157 10
158–159 7
160–161 9
162–163 13
164–165 4
166 4
167+ 98
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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

Personal website of Erik G. Puffenberger

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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

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

Jeanne Amiel

Jeanne Amiel

Université Paris Cité

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

Trending Scientists

Jan Feijen

Jan Feijen

University of Twente

Paul E. Levy

Paul E. Levy

University of Akron

Daniel Le Grange

Daniel Le Grange

University of California, San Francisco

Gonneke W. J. M. Stevens

Gonneke W. J. M. Stevens

Utrecht University

Baljinder K. Sahdra

Baljinder K. Sahdra

Australian Catholic University

Antonino Carcione

Antonino Carcione

Laboratori Guglielmo Marconi (Italy)

Paul B. Rainey

Paul B. Rainey

Max Planck Society

Rosa Lasaponara

Rosa Lasaponara

National Research Council (CNR)

David G. Wilkinson

David G. Wilkinson

The Francis Crick Institute

Dietmar Jannach

Dietmar Jannach

University of Klagenfurt

Reiner Anwander

Reiner Anwander

University of Tübingen

Rémi Dedryvère

Rémi Dedryvère

Centre national de la recherche scientifique, CNRS

Francesca Iemma

Francesca Iemma

University of Calabria

Ignacy Gryczynski

Ignacy Gryczynski

University of North Texas Health Science Center

Chung Mau Lo

Chung Mau Lo

University of Hong Kong

Thomas E. Dowling

Thomas E. Dowling

Wayne State University

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