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?
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
Human genetics and malaria resistance
Silvia N. Kariuki & Thomas N. Williams
Human Genetics, volume 139, pages 801–811(2020). https://doi.org/10.1007/s00439-020-02142-6
The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?
Jean-Laurent Casanova & Laurent Abel
Human Genetics, volume 139, pages 681–694(2020). https://doi.org/10.1007/s00439-020-02184-w
Decoding a highly mixed Kazakh genome
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
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
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
New approaches to the study of immune responses in humans
Petter Brodin
Human Genetics, volume 139, pages 795–799(2020). https://doi.org/10.1007/s00439-020-02129-3
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
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
The relationship between the gut microbiome and host gene expression: a review
Robert G. Nichols & Emily R. Davenport
Human Genetics (2020). https://doi.org/10.1007/s00439-020-02237-0
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
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
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
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