Nature Search

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

Pierrick Wainschtein
Deepti Jain
Peter M. Visscher
Research07 Mar 2022
Nature Genetics

Volume: 54, P: 263-273
A rapid, simple, and economical method for the isolation of ribosomes and translational machinery for structural and functional studies

Here, the authors present a method to rapidly isolate actively translating ribosomes in a time- and cost-effective manner using poly-lysine. The method is compatible with a wide variety of cell and tissue types and can be used for mass spectrometry, cryoEM, and in vitro translation assays.

Jessey Erath
Danielle Kemper
Slavica Pavlovic Djuranovic
ResearchOpen Access05 Aug 2025
Nature Communications

Volume: 16, P: 1-16
Dietary control of peripheral adipose storage capacity through membrane lipid remodelling

Dietary n-6 PUFAs enhance adipose tissue expandability through the PPARγ–LPCAT3 membrane remodelling axis.

Marcus J. Tol
Yuta Shimanaka
Peter Tontonoz
Research27 Jun 2025
Nature Metabolism

Volume: 7, P: 1424-1442
Itaconate modulates immune responses via inhibition of peroxiredoxin 5

Itaconate is shown to non-covalently inhibit the antioxidant enzyme peroxiredoxin 5 in macrophages, thereby modulating the production of mitochondrial peroxide and enhancing the type I interferon production.

Tomas Paulenda
Barbora Echalar
Maxim N. Artyomov
Research18 Apr 2025
Nature Metabolism

Volume: 7, P: 1183-1203
Diminishing benefits of urban living for children and adolescents’ growth and development

The advantage of living in cities compared with rural areas with respect to height and BMI in children and adolescents has generally become smaller globally from 1990 to 2020, except in sub-Saharan Africa.

Anu Mishra
Bin Zhou
Majid Ezzati
ResearchOpen Access29 Mar 2023
Nature

Volume: 615, P: 874-883
Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

Alex R. Kemper
Nancy S. Green
Joseph A. Bocchini Jr
Research01 Aug 2013
Genetics in Medicine

Volume: 16, P: 183-187
An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening

W. Carl Cooley
Alex R. Kemper
Research31 Jan 2013
Genetics in Medicine

Volume: 15, P: 174-177
Weighing the evidence for newborn screening for early-infantile Krabbe disease

Alex R Kemper
Alixandra A Knapp
James M Perrin
Reviews01 Jul 2010
Genetics in Medicine

Volume: 12, P: 539-543
A framework for key considerations regarding point-of-care screening of newborns

Alex R. Kemper
Christopher A. Kus
Nancy S. Green
Reviews16 Aug 2012
Genetics in Medicine

Volume: 14, P: 951-954
A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: Recommendations of the United States Secretary for Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children

Alex R Kemper
Tracy L Trotter
R Rodney Howell
Comments & Opinion15 Jan 2010
Genetics in Medicine

Volume: 12, P: 77-80
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation

Alex R. Kemper
Jeffrey Brosco
Susan Tanksley
Research23 Jun 2016
Genetics in Medicine

Volume: 19, P: 121-126
Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1

Scott D. Grosse
Wendy K.K. Lam
Alex R. Kemper
Research26 Jan 2017
Genetics in Medicine

Volume: 19, P: 975-982
Health and economic outcomes of newborn screening for infantile-onset Pompe disease

John S. Richardson
Alex R. Kemper
Lisa A. Prosser
Research07 Dec 2020
Genetics in Medicine

Volume: 23, P: 758-766
Investing in mentorship for our future patients’ needs

Alex R. Kemper
Rebecca G. Wallihan
Comments & Opinion14 Jan 2021
Pediatric Research

Volume: 89, P: 1059-1060
Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

Alex R Kemper
Coleen A Boyle
R Rodney Howell
Comments & Opinion01 Apr 2008
Genetics in Medicine

Volume: 10, P: 259-261
An evidence development process for newborn screening

James M Perrin
Alixandra A Knapp
Alex R Kemper
Reviews11 Feb 2010
Genetics in Medicine

Volume: 12, P: 131-134
Neonatal hyperbilirubinemia and bilirubin neurotoxicity: what can be learned from the database analysis?

Marie-Coralie Cornet
Alex R. Kemper
Thomas B. Newman
Correspondence08 Feb 2022
Pediatric Research

Volume: 92, P: 1204
Promises and challenges of genomic newborn screening (NBS) – lessons from public health NBS programs

Mari Mori
Bimal P. Chaudhari
Alex R. Kemper
Reviews08 Nov 2024
Pediatric Research

Volume: 97, P: 1327-1336
What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

Cynthia F Hinton
Lisa Feuchtbaum
Coleen A Boyle
Comments & Opinion28 Jun 2011
Genetics in Medicine

Volume: 13, P: 861-865
Selective Serotonin Reuptake Inhibitor (SSRI) Use during Pregnancy and Effects on the Fetus and Newborn: A Meta-Analysis

Keri A Lattimore
Steven M Donn
Delia M Vazquez
Reviews14 Jul 2005
Journal of Perinatology

Volume: 25, P: 595-604
Decision analysis, economic evaluation, and newborn screening: challenges and opportunities

Lisa A. Prosser
Scott D. Grosse
James M. Perrin
Reviews05 Apr 2012
Genetics in Medicine

Volume: 14, P: 703-712

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