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Showing 101–150 of 179 results

Advanced filters: Author: Kelly D. Sullivan Clear advanced filters

Author Correction: A genomic catalog of Earth’s microbiomes

Stephen Nayfach
Simon Roux
Emiley A. Eloe-Fadrosh
Amendments and CorrectionsOpen Access01 Apr 2021
Nature Biotechnology

Volume: 39, P: 521
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
Publisher Correction: A genomic catalog of Earth’s microbiomes

Stephen Nayfach
Simon Roux
Emiley A. Eloe-Fadrosh
Amendments and CorrectionsOpen Access18 Nov 2020
Nature Biotechnology

Volume: 39, P: 520
An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease

Jeryn Chang
JingLei Lv
Shyuan T. Ngo
ResearchOpen Access20 Mar 2025
Scientific Data

Volume: 12, P: 1-8
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa

Zheng-An Lu
Alexander Ploner
Sarah E. Bergen
ResearchOpen Access23 Sept 2025
Molecular Psychiatry

P: 1-10
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
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Targeted sequencing finds a higher burden of rare protein-truncating variants in constrained genes among schizophrenia cases of diverse ancestries. Meta-analyses with existing datasets show that this excess burden is consistent across five ancestral populations.

Dongjing Liu
Dara Meyer
Alexander W. Charney
ResearchOpen Access13 Mar 2023
Nature Genetics

Volume: 55, P: 369-376
Racial and ethnic differences in prenatal exposure to environmental phenols and parabens in the ECHO Cohort

Michael S. Bloom
Sudhi Upadhyaya
Lynne M. Smith
ResearchOpen Access15 Feb 2025
Journal of Exposure Science & Environmental Epidemiology

Volume: 35, P: 992-1002
Low-motion fMRI data can be obtained in pediatric participants undergoing a 60-minute scan protocol

Corey Horien
Scuddy Fontenelle IV
R. Todd Constable
ResearchOpen Access14 Dec 2020
Scientific Reports

Volume: 10, P: 1-10
SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors

Lindsey Oudijk
José Gaal
Winand N M Dinjens
Research23 Nov 2012
Modern Pathology

Volume: 26, P: 456-463
Host-linked soil viral ecology along a permafrost thaw gradient

The recovery of viral populations from peatland soils across a permafrost thaw gradient provides insights into soil viral diversity, their hosts and the potential impacts on carbon cycling in this environment.

Joanne B. Emerson
Simon Roux
Matthew B. Sullivan
ResearchOpen Access16 Jul 2018
Nature Microbiology

Volume: 3, P: 870-880
Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Hanla A. Park
Sonja Neumeyer
Jenny Chang-Claude
ResearchOpen Access02 Aug 2021
British Journal of Cancer

Volume: 125, P: 1135-1145
Minimum Information about an Uncultivated Virus Genome (MIUViG)

This paper presents standards and best practices for reporting genome sequences of uncultivated viruses.

Simon Roux
Evelien M Adriaenssens
Emiley A Eloe-Fadrosh
ReviewsOpen Access17 Dec 2018
Nature Biotechnology

Volume: 37, P: 29-37
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Hakon Hakonarson and colleagues report a genome-wide copy number variation study in 3,506 cases of attention-deficit hyperactivity disorder. The authors identify a statistically significant enrichment of CNVs impacting metabotropic glutamate receptor genes.

Josephine Elia
Joseph T Glessner
Hakon Hakonarson
Research04 Dec 2011
Nature Genetics

Volume: 44, P: 78-84
A phase I/II randomized, double-blinded, placebo-controlled trial of a self-amplifying Covid-19 mRNA vaccine

Jenny G. Low
Ruklanthi de Alwis
Eng Eong Ooi
ResearchOpen Access13 Dec 2022
npj Vaccines

Volume: 7, P: 1-9
The consequences of tetraploidy on Caenorhabditis elegans physiology and sensitivity to chemotherapeutics

Kelly R. Misare
Elizabeth A. Ampolini
Jessica H. Hartman
ResearchOpen Access23 Oct 2023
Scientific Reports

Volume: 13, P: 1-16
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
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
Improving reporting standards for polygenic scores in risk prediction studies

An updated set of reporting standards for the development, interpretation and evaluation of polygenic risk scores is presented, which should aid the translation of these scores into clinical applications.

Hannah Wand
Samuel A. Lambert
Genevieve L. Wojcik
Reviews10 Mar 2021
Nature

Volume: 591, P: 211-219
Optical metrics of the extracellular matrix predict compositional and mechanical changes after myocardial infarction

Kyle P. Quinn
Kelly E. Sullivan
Lauren D. Black
ResearchOpen Access07 Nov 2016
Scientific Reports

Volume: 6, P: 1-12
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.

Laure Frésard
Craig Smail
Stephen B. Montgomery
Research03 Jun 2019
Nature Medicine

Volume: 25, P: 911-919
Non-inferiority randomised phase 3 trial comparing two radiation schedules (single vs. five fractions) in malignant spinal cord compression

Pierre G. Thirion
Mary T. Dunne
Michael Moriarty
ResearchOpen Access11 Mar 2020
British Journal of Cancer

Volume: 122, P: 1315-1323
A polygenic resilience score moderates the genetic risk for schizophrenia

Jonathan L. Hess
Daniel S. Tylee
Stephen J. Glatt
ResearchOpen Access06 Sept 2019
Molecular Psychiatry

Volume: 26, P: 800-815
Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Gonench Kilich
Kelly Hassey
Kathleen E. Sullivan
ResearchOpen Access11 Jan 2024
npj Genomic Medicine

Volume: 9, P: 1-6
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Kelly Schoch
Queenie K.-G. Tan
Vandana Shashi
Research05 May 2020
Genetics in Medicine

Volume: 22, P: 1269-1275
Using an adaptive modeling framework to identify avian influenza spillover risk at the wild-domestic interface

Diann J. Prosser
Cody M. Kent
Jennifer M. Mullinax
ResearchOpen Access20 Jun 2024
Scientific Reports

Volume: 14, P: 1-13
Predicting the potential for zoonotic transmission and host associations for novel viruses

Potential host range and spillover risk for novel viruses can be predicted using a network informed by known virus-host associations.

Pranav S. Pandit
Simon J. Anthony
Christine K. Johnson
ResearchOpen Access19 Aug 2022
Communications Biology

Volume: 5, P: 1-10
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

A Hinney
M Kesselmeier
J Hebebrand
Research17 May 2016
Molecular Psychiatry

Volume: 22, P: 192-201
Author Correction: A detailed map of Higgs boson interactions by the ATLAS experiment ten years after the discovery

G. Aad
B. Abbott
L. Zwalinski
Amendments and CorrectionsOpen Access18 Oct 2023
Nature

Volume: 623, P: E5
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Development of an exosomal gene signature to detect residual disease in dogs with osteosarcoma using a novel xenograft platform and machine learning

An osteosarcoma-specific exosomal gene signature was developed using an orthotopic. xenograft model with a species-differentiating bioinformatics pipeline. The gene signature was validated in the serum of dogs with osteosarcoma, where it was able to detect minimal residual disease, and was therefore associated with prognosis following treatment.

Kelly M. Makielski
Alicia J. Donnelly
Jaime F. Modiano
Research06 Sept 2021
Laboratory Investigation

Volume: 101, P: 1585-1596
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Host factors are associated with vaginal microbiome structure in pregnancy in the ECHO Cohort Consortium

Kimberly McKee
Christine M. Bassis
Lynne M. Smith
ResearchOpen Access23 May 2024
Scientific Reports

Volume: 14, P: 1-19
Altered white matter microstructural organization in posttraumatic stress disorder across 3047 adults: results from the PGC-ENIGMA PTSD consortium

Emily L. Dennis
Seth G. Disner
Rajendra A. Morey
Research19 Dec 2019
Molecular Psychiatry

Volume: 26, P: 4315-4330
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Gerard Schellenberg and colleagues report a genome-wide association study for progressive supranuclear palsy, a movement disorder with prominent tau neuropathology. They identified three new risk loci and confirmed the known risk locus at MAPT.

Günter U Höglinger
Nadine M Melhem
Gerard D Schellenberg
Research19 Jun 2011
Nature Genetics

Volume: 43, P: 699-705
Description of first nursery area for a pygmy devil ray species (Mobula munkiana) in the Gulf of California, Mexico

Marta D. Palacios
Edgar M. Hoyos-Padilla
Rogelio González-Armas
ResearchOpen Access08 Jan 2021
Scientific Reports

Volume: 11, P: 1-11
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Uncovering the roles of dihydropyrimidine dehydrogenase in fatty-acid induced steatosis using human cellular models

Kelly E. Sullivan
Sheetal Kumar
Fan Fan
ResearchOpen Access18 Aug 2022
Scientific Reports

Volume: 12, P: 1-16
Imaging Nicotine- and Amphetamine-Induced Dopamine Release in Rhesus Monkeys with [¹¹C]PHNO vs [¹¹C]raclopride PET

Jean-Dominique Gallezot
Tracy Kloczynski
Kelly P Cosgrove
Research15 Oct 2013
Neuropsychopharmacology

Volume: 39, P: 866-874
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Dong Li
Xiao Chang
Hakon Hakonarson
ResearchOpen Access19 Jun 2017
Scientific Reports

Volume: 7, P: 1-8
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Nichola Johnson
Sarah Maguire
Olivia Fletcher
ResearchOpen Access26 Jan 2021
British Journal of Cancer

Volume: 124, P: 842-854
Historically unprecedented Northern Gulf of Mexico hurricane activity from 650 to 1250 CE

Jessica R. Rodysill
Jeffrey P. Donnelly
Peter J. van Hengstum
ResearchOpen Access05 Nov 2020
Scientific Reports

Volume: 10, P: 1-17
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
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
TRAV1-2⁺ CD8⁺ T-cells including oligoconal expansions of MAIT cells are enriched in the airways in human tuberculosis

Emily Wong et al. observe that Mycobacterium tuberculosis (Mtb) infection induces recruitment and expansion of a CD8⁺ TRAV1-2⁺ T-cell population in the airways of human patients. T cell receptor analysis showed expansion of this cell population, including oligoclonal MAIT cells, in sites where Mtb antigens are present, suggesting they act as sentinels of pulmonary infection.

Emily B. Wong
Marielle C. Gold
David M. Lewinsohn
ResearchOpen Access05 Jun 2019
Communications Biology

Volume: 2, P: 1-13
Radium-223 mechanism of action: implications for use in treatment combinations

In this Review, Morris et al. summarize the mechanisms through which ²²³Ra exerts its biological effects in metastatic castration-resistant prostate cancer, discuss potential ²²³Ra combination therapies and provide future perspectives for targeted alpha-particle therapy.

Michael J. Morris
Eva Corey
George Sgouros
Reviews11 Nov 2019
Nature Reviews Urology

Volume: 16, P: 745-756
Spliceosome mutations are common in persons with myeloproliferative neoplasm-associated myelofibrosis with RBC-transfusion-dependence and correlate with response to pomalidomide

Onima Chowdhury
Jennifer O’Sullivan
James Vardiman
Research07 Aug 2020
Leukemia

Volume: 35, P: 1197-1202

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