Skip to main content
Log in

Human Genetics - Top 10 Downloaded Articles in 2020

We want to thank the authors of our most downloaded articles during 2020, and highlight to our readers some of the most impactful research to have published in the journal. We hope that you will find the data interesting!

Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity? (this opens in a new tab)
Daniel John Lawson, Neil Martin Davies, Simon Haworth, Bilal Ashraf, Laurence Howe, Andrew Crawford, Gibran Hemani, George Davey Smith & Nicholas John Timpson
Human Genetics, volume 139, pages 23–41(2020). https://doi.org/10.1007/s00439-019-02014-8 (this opens in a new tab)
 

Human genetics and malaria resistance (this opens in a new tab)
Silvia N. Kariuki & Thomas N. Williams
Human Genetics, volume 139, pages 801–811(2020). https://doi.org/10.1007/s00439-020-02142-6 (this opens in a new tab)
 

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity? (this opens in a new tab)
Jean-Laurent Casanova & Laurent Abel
Human Genetics, volume 139, pages 681–694(2020). https://doi.org/10.1007/s00439-020-02184-w (this opens in a new tab)
 

Decoding a highly mixed Kazakh genome (this opens in a new tab)
Madina Seidualy, Asta Blazyte, Sungwon Jeon, Youngjune Bhak, Yeonsu Jeon, Jungeun Kim, Anders Eriksson, Dan Bolser, Changhan Yoon, Andrea Manica, Semin Lee & Jong Bhak
Human Genetics, volume 139, pages 557–568(2020). https://doi.org/10.1007/s00439-020-02132-8 (this opens in a new tab)
 

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy (this opens in a new tab)
Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo & Ichizo Nishino
Human Genetics, volume 139, pages 247–255(2020). https://doi.org/10.1007/s00439-019-02107-4 (this opens in a new tab)
 

New approaches to the study of immune responses in humans (this opens in a new tab)
Petter Brodin
Human Genetics, volume 139, pages 795–799(2020). https://doi.org/10.1007/s00439-020-02129-3 (this opens in a new tab)
 

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting (this opens in a new tab)
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips & David N. Cooper
Human Genetics, volume 139, pages 1197–1207(2020). https://doi.org/10.1007/s00439-020-02199-3 (this opens in a new tab)
 

The relationship between the gut microbiome and host gene expression: a review (this opens in a new tab)
Robert G. Nichols & Emily R. Davenport
Human Genetics (2020). https://doi.org/10.1007/s00439-020-02237-0 (this opens in a new tab)
 

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21 (this opens in a new tab)
Nandita Mukhopadhyay, Madison Bishop, Michael Mortillo, Pankaj Chopra, Jacqueline B. Hetmanski, Margaret A. Taub, Lina M. Moreno, Luz Consuelo Valencia-Ramirez, Claudia Restrepo, George L. Wehby, Jacqueline T. Hecht, Frederic Deleyiannis, Azeez Butali, Seth M. Weinberg, Terri H. Beaty, Jeffrey C. Murray, Elizabeth J. Leslie, Eleanor Feingold & Mary L. Marazita
Human Genetics, volume 139, pages 215–226(2020). https://doi.org/10.1007/s00439-019-02099-1 (this opens in a new tab)


Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis (this opens in a new tab)
Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M. Lee, Bernd Auber, Alexander von Gise, Donald S. Petrey, Holger Thiele, Lukas Cyganek, María Sabater-Molina, Priyanka Ahimaz, Juan Cabezas-Herrera, Moisés Sorlí-García, Arne Zibat, Markus D. Siegelin, Peter Burfeind, Christie M. Buchovecky, Gerd Hasenfuss, Barry Honig, Yun Li, Alejandro D. Iglesias & Bernd Wollnik
Human Genetics, volume 139, pages 1443–1454(2020). https://doi.org/10.1007/s00439-020-02188-6 (this opens in a new tab)


Navigation