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Nature Genetics (5)
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Showing 1–17 of 17 results

Advanced filters: Author: John Attanasio Clear advanced filters

Analysis of cfDNA fragmentomics metrics and commercial targeted sequencing panels

cfDNA fragmentomics is a potential clinically applicable method for identifying cancer. Here, the authors assess fragmentomics analysis methods and their application to commercial targeted sequencing panels.

Kyle T. Helzer
Marina N. Sharifi
Shuang G. Zhao
ResearchOpen Access14 Oct 2025
Nature Communications

Volume: 16, P: 1-12
Insights into the genetic architecture of the human face

A multivariate genome-wide association study identifies 203 signals associated with facial variation. These signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues.

Julie D. White
Karlijne Indencleef
Peter Claes
Research07 Dec 2020
Nature Genetics

Volume: 53, P: 45-53
Author Correction: A challenge for rounded evaluation of recommender systems

Jacopo Tagliabue
Federico Bianchi
Patrick John Chia
Amendments and Corrections11 Mar 2024
Nature Machine Intelligence

Volume: 6, P: 368
Mapping the gene space at single-cell resolution with gene signal pattern analysis

This work presents a graph signal processing method, gene signal pattern analysis, to embed gene signals from single-cell sequencing data. In diverse experimental set-ups and case studies, GSPA establishes a gene-based framework for single-cell analysis.

Aarthi Venkat
Sam Leone
Smita Krishnaswamy
Research20 Dec 2024
Nature Computational Science

Volume: 4, P: 955-977
Endothelial γ-protocadherins inhibit KLF2 and KLF4 to promote atherosclerosis

Joshi et al. show that γ-protocadherins suppress the anti-inflammatory KLF2 and KLF4 pathway and that targeting them is a viable therapeutic strategy to protect against atherosclerosis.

Divyesh Joshi
Brian G. Coon
Martin A. Schwartz
ResearchOpen Access04 Sept 2024
Nature Cardiovascular Research

Volume: 3, P: 1035-1048
TOX transcriptionally and epigenetically programs CD8⁺ T cell exhaustion

The transcription factor TOX is a central regulator of the transcriptional and epigenetic development of exhausted T cells.

Omar Khan
Josephine R. Giles
E. John Wherry
Research17 Jun 2019
Nature

Volume: 571, P: 211-218
Sleep Modulation of Neuroendocrine Function: Developmental Changes in Gonadotropin-Releasing Hormone Secretion during Sexual Maturation

Hal Landy
Paul A Boepple
William F Crowley Jr.
Research01 Sept 1990
Pediatric Research

Volume: 28, P: 213-217
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Massimo Attanasio
N Henriette Uhlenhaut
Mathias Treier
Research08 Jul 2007
Nature Genetics

Volume: 39, P: 1018-1024
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes
Roger C Wiggins
Friedhelm Hildebrandt
Research05 Nov 2006
Nature Genetics

Volume: 38, P: 1397-1405
A challenge for rounded evaluation of recommender systems

The organizers of the EvalRS recommender systems competition argue that accuracy should not be the only goal and explain how they took robustness and fairness into account.

Jacopo Tagliabue
Federico Bianchi
Patrick John Chia
Comments & Opinion26 Jan 2023
Nature Machine Intelligence

Volume: 5, P: 181-182
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A Sayer
Edgar A Otto
Friedhelm Hildebrandt
Research07 May 2006
Nature Genetics

Volume: 38, P: 674-681
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Edgar A Otto
Bart Loeys
Friedhelm Hildebrandt
Research20 Feb 2005
Nature Genetics

Volume: 37, P: 282-288
Optimized retroviral transduction of mouse T cells for in vivo assessment of gene function

This protocol describes an optimized procedure for retroviral (RV) transduction of mouse T cells by enriching RV-susceptible activated CD8⁺ T cells through Percoll density centrifugation, enhancing the frequency of RV-transduced cells ∼sixfold in vivo.

Makoto Kurachi
Junko Kurachi
E John Wherry
Protocols31 Aug 2017
Nature Protocols

Volume: 12, P: 1980-1998
Publisher Correction: Contrastive language and vision learning of general fashion concepts

Patrick John Chia
Giuseppe Attanasio
Jacopo Tagliabue
Amendments and CorrectionsOpen Access23 Jan 2023
Scientific Reports

Volume: 13, P: 1-2
Contrastive language and vision learning of general fashion concepts

Patrick John Chia
Giuseppe Attanasio
Jacopo Tagliabue
ResearchOpen Access08 Nov 2022
Scientific Reports

Volume: 12, P: 1-13
Nkx2–5 Second Heart Field Target Gene Ccdc117 Regulates DNA Metabolism and Proliferation

Anthony J. Horton
John Brooker
Kyu-Ho Lee
ResearchOpen Access11 Feb 2019
Scientific Reports

Volume: 9, P: 1-12
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

M N Loviglio
M Leleu
A Reymond
ResearchOpen Access31 May 2016
Molecular Psychiatry

Volume: 22, P: 836-849