2026 Kathryn N. North: Medicine Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Medicine	104	7106	6676	208	203	481	35972

Overview

Kathryn N. North is affiliated with the University of Melbourne in Australia. Their research spans multiple fields within medicine, biochemistry, genetics, and molecular biology. Their work particularly focuses on genetics, neurology, and molecular biology, with additional contributions in cardiology, cardiovascular medicine, orthopedics, and sports medicine.

The primary topics addressed in their research include genetics and physical performance, neurofibromatosis and schwannoma cases, cardiovascular effects of exercise, sports performance and training, genomics and rare diseases, genetics and neurodevelopmental disorders, and muscle physiology and disorders.

They have contributed articles to a variety of scientific venues, with notable frequent publications in:

bioRxiv (Cold Spring Harbor Laboratory)
The American Journal of Human Genetics
Stem Cell Research
Developmental Medicine & Child Neurology
Nature Medicine

Kathryn N. North's recent papers reflect ongoing work across human genetics and rare disease diagnosis. Selected publications include:

"A brief history of human disease genetics," 2020, Nature
"Integrated multi-omics for rapid rare disease diagnosis on a national scale," 2023, Nature Medicine
"Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution," 2021, The American Journal of Human Genetics
"Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare," 2023, The American Journal of Human Genetics
"Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3)," 2020, Nature Communications

Their collaborative work includes frequent co-authorship alongside several researchers, among them:

Peter J. Houweling
Jonathan M. Payne
Claus-Bernhard Pakleppa
Kristina M. Haebich
Chrystal F. Tiong

Kathryn N. North's contributions engage a broad spectrum of biomedical research questions primarily within human genetics and associated clinical conditions. Their activity in both national and international initiatives illustrates involvement in advancing diagnostic genomics and collaborative efforts to improve gene panel curation and interpretation in clinical genetics.

Best Publications

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

Joshua M. Kaplan;Sung Han Kim;Kathryn N. North;Helmut Rennke

1565
Citations
ACTN3 Genotype Is Associated with Human Elite Athletic Performance

Nan Yang;Daniel G. MacArthur;Daniel G. MacArthur;Jason P. Gulbin;Allan G. Hahn

1240
Citations
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1

Shelley L. Hyman;Arthur Shores;Kathryn N. North

676
Citations
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

674
Citations
Genes and human elite athletic performance

Daniel G. MacArthur;Kathryn N. North;Kathryn N. North

648
Citations
Distinctive patterns of microRNA expression in primary muscular disorders

Iris Eisenberg;Alal Eran;Ichizo Nishino;Maurizio Moggio

590
Citations
A brief history of human disease genetics.

Melina Claussnitzer;Melina Claussnitzer;Melina Claussnitzer;Judy H Cho;Rory Collins;Nancy J Cox

575
Citations
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

Kathryn N. North;Kathryn N. North;Nan Yang;Duangrurdee Wattanasirichaigoon;Michelle Mills

572
Citations
Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species: implications for the evolution of functional redundancy

Michelle A. Mills;Nan Yang;Ron P. Weinberger;Douglas L. Vander Woude

550
Citations
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Caroline Godfrey;Emma Clement;Rachael Mein;Martin Brockington

459
Citations
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Kristen J. Nowak;Kristen J. Nowak;Duangrurdee Wattanasirichaigoon;Hans H. Goebel;Matthew Wilce

453
Citations
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.

Daniel MacArthur;Jane T Seto;Jane T Seto;Joanna M Raftery;Kate G Quinlan;Kate G Quinlan

386
Citations
Integrating Genomics into Healthcare: A Global Responsibility

Zornitza Stark;Lena Dolman;Teri A. Manolio;Brad Ozenberger

370
Citations
An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance

Daniel G. MacArthur;Jane T. Seto;Stephen Chan;Kate G.R. Quinlan

367
Citations
Genetics and sport performance: current challenges and directions to the future

João Paulo Limongi França Guilherme;Aline Cristina Capparelli Tritto;Kathryn Nance North;Antonio Herbert Lancha Junior

358
Citations
Cognitive function and academic performance in neurofibromatosis 1 : Consensus statement from the NF1 Cognitive Disorders Task Force

K. N. North;V. Riccardi;C. Samango-Sprouse;R. Ferner

341
Citations
Diagnostic approach to the congenital muscular dystrophies

Carsten C.G. Bönnemann;Ching C.H. Wang;Susana Quijano-Roy;Nicolas Deconinck

338
Citations
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes

Michele Bastiani;Libin Liu;Michelle M. Hill;Mark P. Jedrychowski

325
Citations
Nemaline myopathy: A clinical study of 143 cases

Monique M. Ryan;Christina Schnell;Corinne D. Strickland;Lloyd K. Shield

319
Citations
Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104)

Iris Eisenberg;Alal Eran;Ichizo Nishino;Maurizio Moggio

13
Citations

Frequent Co-Authors

Daniel G. MacArthur Garvan Institute of Medical Research

Monkol Lek Yale University

Nigel G. Laing University of Western Australia

Francesco Muntoni University College London

Alan H. Beggs Harvard Medical School

Carina Wallgren-Pettersson University of Helsinki

Volker Straub Newcastle University

Eric P. Hoffman Binghamton University

Peter W. Gunning University of New South Wales

Edna C. Hardeman University of New South Wales

External Links

Personal website of Kathryn N. North

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