Nature Search

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Maximilian Muenke
Ute Schell
Robin M. Winter
Research01 Nov 1994
Nature Genetics

Volume: 8, P: 269-274
Protect young secondary forests for optimum carbon removal

The authors generate ~1-km² growth curves for aboveground live carbon in regrowing forests, globally. They show that maximum carbon removal rates can vary by 200-fold spatially and with age, with the greatest rates estimated at about 30 ± 12 years, highlighting the role of secondary forests in carbon cycling.

Nathaniel Robinson
C. Ronnie Drever
Susan C. Cook-Patton
ResearchOpen Access24 Jun 2025
Nature Climate Change

P: 1-8
Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Alexander Polinkovsky
Nathaniel H. Robin
Matthew L. Warman
Correspondence01 Sept 1997
Nature Genetics

Volume: 17, P: 18-19
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Nathaniel H. Robin
George J. Feldman
Maximilian Muenke
Research01 Dec 1995
Nature Genetics

Volume: 11, P: 459-461
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Sera from vaccinated individuals and some monoclonal antibodies show a modest reduction in neutralizing activity against the B.1.1.7 variant of SARS-CoV-2; but the E484K substitution leads to a considerable loss of neutralizing activity.

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Research11 Mar 2021
Nature

Volume: 593, P: 136-141
Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission

In this study, Aggarwal and colleagues perform prospective sequencing of SARS-CoV-2 isolates derived from asymptomatic student screening and symptomatic testing of students and staff at the University of Cambridge. They identify important factors that contributed to within university transmission and onward spread into the wider community.

Dinesh Aggarwal
Ben Warne
Ian G. Goodfellow
ResearchOpen Access08 Feb 2022
Nature Communications

Volume: 13, P: 1-16
SARS-CoV-2 evolution during treatment of chronic infection

Chronic infection with SARS-CoV-2 leads to the emergence of viral variants that show reduced susceptibility to neutralizing antibodies in an immunosuppressed individual treated with convalescent plasma.

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Research05 Feb 2021
Nature

Volume: 592, P: 277-282
Evolution of genes and genomes on the Drosophila phylogeny

An international consortium reports the genomic sequence for ten Drosophila species, and compares them to two other previously published Drosophila species. These data are invaluable for drawing evolutionary conclusions across an entire phylogeny of species at once.

Andrew G. Clark
Michael B. Eisen
Iain MacCallum
Research08 Nov 2007
Nature

Volume: 450, P: 203-218
Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission

Post-international travel quarantine has been widely implemented to mitigate SARS-CoV-2 transmission, but the impacts of such policies are unclear. Here, the authors used linked genomic and contact tracing data to assess the impacts of a 14-day quarantine on return to England in summer 2020.

Dinesh Aggarwal
Andrew J. Page
Ewan M. Harrison
ResearchOpen Access23 Feb 2022
Nature Communications

Volume: 13, P: 1-13
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Genetic and testing data from England show that the SARS-CoV-2 variant of concern B.1.1.7 has a transmission advantage over other lineages.

Erik Volz
Swapnil Mishra
Neil M. Ferguson
Research25 Mar 2021
Nature

Volume: 593, P: 266-269
Genomic reconstruction of the SARS-CoV-2 epidemic in England

A study of the evolution of the SARS-CoV-2 virus in England between September 2020 and June 2021 finds that interventions capable of containing previous variants were insufficient to stop the more transmissible Alpha and Delta variants.

Harald S. Vöhringer
Theo Sanderson
Moritz Gerstung
ResearchOpen Access14 Oct 2021
Nature

Volume: 600, P: 506-511
SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

The Omicron variant evades vaccine-induced neutralization but also fails to form syncytia, shows reduced replication in human lung cells and preferentially uses a TMPRSS2-independent cell entry pathway, which may contribute to enhanced replication in cells of the upper airway. Altered fusion and cell entry characteristics are linked to distinct regions of the Omicron spike protein.

Brian J. Willett
Joe Grove
Emma C. Thomson
ResearchOpen Access07 Jul 2022
Nature Microbiology

Volume: 7, P: 1161-1179
Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders

Using a sample of more than 1 million individuals, Hatoum et al. identify genomic loci associated with general and substance-specific addiction risk.

Alexander S. Hatoum
Sarah M. C. Colbert
Arpana Agrawal
Research22 Mar 2023
Nature Mental Health

Volume: 1, P: 210-223
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
The use of role-play to enhance medical student understanding of genetic counseling

Dawn E McIlvried
Sandra K Prucka
Nathaniel H Robin
Research01 Oct 2008
Genetics in Medicine

Volume: 10, P: 739-744
Molecular refinement of Karyotype: Beyond the cytogenetic band

D Alexa Sirko-Osadsa
Suzanne B Cassidy
Stuart Schwartz
Research01 Sept 1999
Genetics in Medicine

Volume: 1, P: 254-261
Author Correction: Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E24
Author Correction: SARS-CoV-2 evolution during treatment of chronic infection

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E23
A topographic hinge-zone divides coastal and inland ice dynamic regimes in East Antarctica

The Heimefrontfjella escarpment in Dronning Maud Land, East Antarctica divides inland precipitation-dominated ice dynamics from coastal dynamics dominated by grounding line migration, suggest inverse model simulations constrained by cosmogenic nuclide measurements.

Jane L. Andersen
Jennifer C. Newall
Arjen P. Stroeven
ResearchOpen Access05 Jan 2023
Communications Earth & Environment

Volume: 4, P: 1-12
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Fady M. Mikhail
Rachel D. Burnside
Andrew J. Carroll
Research13 Jun 2013
Genetics in Medicine

Volume: 16, P: 92-100
Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England

Harald S. Vöhringer
Theo Sanderson
Moritz Gerstung
Amendments and CorrectionsOpen Access07 Jun 2022
Nature

Volume: 606, P: E18
The finished DNA sequence of human chromosome 12

An analysis of the finished sequence of human chromosome 12 representing 4.5% of the human genome determines that chromosome 12 hosts a number of genes mutated in specific cancers, as well as movement disorders and potentially Alzheimer's disease.

Steven E. Scherer
Donna M. Muzny
Richard A. Gibbs
Research16 Mar 2006
Nature

Volume: 440, P: 346-351
The development and implementation of an in-service exam for medical genetics residency programs

Nathaniel H. Robin
V. Reid Sutton
Laurie Demmer
Research26 Jan 2012
Genetics in Medicine

Volume: 14, P: 552-557
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
Considerations for a multiaxis nomenclature system for medical genetics

Nathaniel H Robin
Leslie G Biesecker
Research01 Jul 2001
Genetics in Medicine

Volume: 3, P: 290-293
Attitudes of African American premedical students toward genetic testing and screening

Sara L Laskey
Joseph Williams
Nathaniel H Robin
Research01 Jan 2003
Genetics in Medicine

Volume: 5, P: 49-54
Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP)

The Human BioMolecular Atlas Program (HuBMAP) presents its production phase: the generation of spatial maps of functional tissue units across organs from diverse populations and the creation of tools and infrastructure to advance biomedical research.

Sanjay Jain
Liming Pei
Michael P. Snyder
Reviews19 Jul 2023
Nature Cell Biology

Volume: 25, P: 1089-1100
Publisher Correction: SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

Brian J. Willett
Joe Grove
Emma C. Thomson
Amendments and CorrectionsOpen Access16 Sept 2022
Nature Microbiology

Volume: 7, P: 1709
Response to Lacassie

Nathaniel H Robin
Leslie G Biesecker
Correspondence01 Mar 2002
Genetics in Medicine

Volume: 4, P: 96
Vitamin D and family history of hypertension in relation to hypertension status among college students

Yendelela L. Cuffee
Ming Wang
Robin Taylor Wilson
ResearchOpen Access20 Jul 2021
Journal of Human Hypertension

Volume: 36, P: 839-845
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne
Shuxiang Goh
Philippe M. Campeau
Research20 Oct 2020
Genetics in Medicine

Volume: 23, P: 374-383
Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning

Sema Nickbakhsh
Joseph Hughes
Alison Smith-Palmer
ResearchOpen Access19 Jul 2022
Scientific Reports

Volume: 12, P: 1-17
COVID-19 due to the B.1.617.2 (Delta) variant compared to B.1.1.7 (Alpha) variant of SARS-CoV-2: a prospective observational cohort study

Kerstin Kläser
Erika Molteni
Emma L. Duncan
ResearchOpen Access28 Jun 2022
Scientific Reports

Volume: 12, P: 1-17
Permafrost Degradation and Subsidence Observations during a Controlled Warming Experiment

Anna M. Wagner
Nathaniel J. Lindsey
Jonathan Ajo-Franklin
ResearchOpen Access19 Jul 2018
Scientific Reports

Volume: 8, P: 1-9
Identifying healthy individuals with Alzheimer’s disease neuroimaging phenotypes in the UK Biobank

Azevedo et al. conduct a machine learning-based analysis of structural MRI data from multiple cohorts. The authors identify Alzheimer’s disease-like neuroimaging phenotypes associated with poorer cognitive performance in a healthy UK Biobank cohort, potentially highlighting a population at risk of Alzheimer’s disease.

Tiago Azevedo
Richard A. I. Bethlehem
Gail Li
ResearchOpen Access20 Jul 2023
Communications Medicine

Volume: 3, 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
A predictive model using the mesoscopic architecture of the living brain to detect Alzheimer’s disease

Inglese et al. develop a predictive model that computes multi-regional statistical morpho-functional mesoscopic traits from T1-weighted magnetic resonance imaging scans. Their model reliably discriminates people with Alzheimer’s disease-related pathologies from those without.

Marianna Inglese
Neva Patel
Eric O. Aboagye
ResearchOpen Access20 Jun 2022
Communications Medicine

Volume: 2, P: 1-16
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
Global data on earthworm abundance, biomass, diversity and corresponding environmental properties

Helen R. P. Phillips
Elizabeth M. Bach
Nico Eisenhauer
ResearchOpen Access21 May 2021
Scientific Data

Volume: 8, P: 1-12
Biphenyl-utilizing bacteria and their functional genes in a pine root zone contaminated with polychlorinated biphenyls (PCBs)

Mary Beth Leigh
Vivian H Pellizari
James M Tiedje
Research24 May 2007
The ISME Journal

Volume: 1, P: 134-148
Genetic testing for deafness is here, but how do we do it?

Nathaniel H Robin
Editorial01 Nov 2004
Genetics in Medicine

Volume: 6, P: 463-464
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Dana Hollenbeck
Crescenda L. Williams
Fady M. Mikhail
Research15 Sept 2016
Genetics in Medicine

Volume: 19, P: 377-385
AsktheGeneticist^SM: five years of online experience

Catherine Tesla
Bruce R Korf
Stephen Warren
Research01 Apr 2009
Genetics in Medicine

Volume: 11, P: 294-304
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Raye L. Alford
Kathleen S. Arnos
Christine Yoshinaga-Itano
Research20 Mar 2014
Genetics in Medicine

Volume: 16, P: 347-355

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