Nature Search

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

Sanna Gudmundsson
Moriel Singer-Berk
Anne O’Donnell-Luria
ResearchOpen Access31 Oct 2025
Nature Communications

Volume: 16, P: 1-14
The In Vitro Effects of Stem Cell Factor and PIXY321 on Myeloid Progenitor Formation (CFU-GM) from Immunomagnetic Separated CD34⁺ Cord Blood

Mitchell S Cairo
Ping Law
Adrian Gee
Research01 Sept 1992
Pediatric Research

Volume: 32, P: 277-281
Cytokines and their relationship to the symptoms and outcome of cancer

In patients with advanced cancer, pro-inflammatory cytokines are associated with anorexia and cachexia, pain, fatigue, depression, toxicity of treatment and resistance to treatment. What is our current understanding of the pathways that mediate these effects and how can we prevent them?

Bostjan Seruga
Haibo Zhang
Ian F. Tannock
Reviews10 Oct 2008
Nature Reviews Cancer

Volume: 8, P: 887-899
FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

In this study the authors identify a possible link between the gene FAM222A and brain atrophy. The protein it encodes is found to accumulate in plaques seen in Alzheimer’s disease, and functional analysis suggests it interacts with amyloid-beta.

Tingxiang Yan
Jingjing Liang
Xinglong Wang
ResearchOpen Access21 Jan 2020
Nature Communications

Volume: 11, P: 1-16
Marked variation between winter and spring gut microbiota in free-ranging Tibetan Macaques (Macaca thibetana)

Binghua Sun
Xi Wang
Jinhua Li
ResearchOpen Access16 May 2016
Scientific Reports

Volume: 6, P: 1-8
Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

Aging can lead to cognitive decline associated with neural pathology and Alzheimer's disease (AD). Here the authors scan the methylation status of CpGs across the entire genome of brain samples from aged subjects in an epigenome-wide association study (EWAS). Several loci, including ANK1, were associated with AD pathology, gene expression and AD genetic risk networks.

Philip L De Jager
Gyan Srivastava
David A Bennett
Research17 Aug 2014
Nature Neuroscience

Volume: 17, P: 1156-1163
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena
Yong-Hui Jiang
Vandana Shashi
Research14 Sept 2017
Genetics in Medicine

Volume: 20, P: 464-469
Relationships of PGRN with sTREM2 in AD continuum and non-AD pathophysiology and their reciprocal roles in modulating amyloid pathology: two population-based study

Liang-Yu Huang
Chen-Chen Tan
Dariella Fernandez
ResearchOpen Access08 Jul 2025
Translational Psychiatry

Volume: 15, P: 1-11
Author Correction: FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

Tingxiang Yan
Jingjing Liang
Xinglong Wang
Amendments and CorrectionsOpen Access11 Jul 2022
Nature Communications

Volume: 13, P: 1-2
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Vandana Shashi
Kelly Schoch
Allison Zheng
Research15 Jun 2018
Genetics in Medicine

Volume: 21, P: 161-172
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda M. Mirzaa
Jessica X. Chong
Michael J. Bamshad
Research14 Nov 2019
Genetics in Medicine

Volume: 22, P: 538-546
Pattern Discovery in Brain Imaging Genetics via SCCA Modeling with a Generic Non-convex Penalty

Lei Du
Kefei Liu
Kristin Fargher
ResearchOpen Access25 Oct 2017
Scientific Reports

Volume: 7, P: 1-14
Predicting Short-term MCI-to-AD Progression Using Imaging, CSF, Genetic Factors, Cognitive Resilience, and Demographics

Yogatheesan Varatharajah
Vijay K. Ramanan
Kristin Fargher
ResearchOpen Access19 Feb 2019
Scientific Reports

Volume: 9, P: 1-15
Staging tau pathology with tau PET in Alzheimer’s disease: a longitudinal study

Shi-Dong Chen
Jia-Ying Lu
Michelle Zmuda
ResearchOpen Access18 Sept 2021
Translational Psychiatry

Volume: 11, P: 1-12
Plasma phosphorylated-tau181 as a predictive biomarker for Alzheimer’s amyloid, tau and FDG PET status

Xue-Ning Shen
Yu-Yuan Huang
Michelle Zmuda
ResearchOpen Access13 Nov 2021
Translational Psychiatry

Volume: 11, P: 1-10
Challenges and Opportunities with Causal Discovery Algorithms: Application to Alzheimer’s Pathophysiology

Xinpeng Shen
Sisi Ma
Kristin Fargher
ResearchOpen Access19 Feb 2020
Scientific Reports

Volume: 10, P: 1-12

Search

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

The In Vitro Effects of Stem Cell Factor and PIXY321 on Myeloid Progenitor Formation (CFU-GM) from Immunomagnetic Separated CD34⁺ Cord Blood

Cytokines and their relationship to the symptoms and outcome of cancer

FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

Marked variation between winter and spring gut microbiota in free-ranging Tibetan Macaques (Macaca thibetana)

Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Relationships of PGRN with sTREM2 in AD continuum and non-AD pathophysiology and their reciprocal roles in modulating amyloid pathology: two population-based study

Author Correction: FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Pattern Discovery in Brain Imaging Genetics via SCCA Modeling with a Generic Non-convex Penalty

Predicting Short-term MCI-to-AD Progression Using Imaging, CSF, Genetic Factors, Cognitive Resilience, and Demographics

Staging tau pathology with tau PET in Alzheimer’s disease: a longitudinal study

Plasma phosphorylated-tau181 as a predictive biomarker for Alzheimer’s amyloid, tau and FDG PET status

Challenges and Opportunities with Causal Discovery Algorithms: Application to Alzheimer’s Pathophysiology

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