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Showing 151–200 of 228 results

Advanced filters: Author: Susan Sullivan Clear advanced filters

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
Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Laura M Huckins
Vesna Boraska
Ioanna Tachmazidou
ResearchOpen Access19 Feb 2014
European Journal of Human Genetics

Volume: 22, P: 1190-1200
Surveillance for highly pathogenic H5 avian influenza virus in synanthropic wildlife associated with poultry farms during an acute outbreak

Susan A. Shriner
J. Jeffrey Root
Thomas J. DeLiberto
ResearchOpen Access04 Nov 2016
Scientific Reports

Volume: 6, P: 1-11
Genome-wide association meta-analysis identifies new endometriosis risk loci

Dale Nyholt and colleagues report a genome-wide association meta-analysis of endometriosis in individuals of Japanese and European ancestry. They report a new susceptibility locus at 12q22 and establish an association at 2p25.1.

Dale R Nyholt
Siew-Kee Low
Grant W Montgomery
Research28 Oct 2012
Nature Genetics

Volume: 44, P: 1355-1359
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
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
A genomic catalog of Earth’s microbiomes

Cataloging microbial genomes from Earth’s environments expands the known phylogenetic diversity of bacteria and archaea.

Stephen Nayfach
Simon Roux
Emiley A. Eloe-Fadrosh
ResearchOpen Access09 Nov 2020
Nature Biotechnology

Volume: 39, P: 499-509
A mega-analysis of genome-wide association studies for major depressive disorder

Stephan Ripke
Naomi R Wray
Patrick F Sullivan
Research03 Apr 2012
Molecular Psychiatry

Volume: 18, P: 497-511
Genome-wide meta-analyses identify multiple loci associated with smoking behavior

The Tobacco and Genetics Consortium report meta-analyses of several smoking phenotypes across 16 cohorts including 74,053 individuals. They identify three loci associated with cigarettes smoked per day.

Helena Furberg
YunJung Kim
Patrick F Sullivan
Research25 Apr 2010
Nature Genetics

Volume: 42, P: 441-447
Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Sara J Bowne
Marian M Humphries
Peter Humphries
Amendments and Corrections22 Sept 2011
European Journal of Human Genetics

Volume: 19, P: 1109
SARS-Cov-2 vaccination strategies in hospitalized recovered COVID-19 patients: a randomized clinical trial (VATICO Trial)

Sofía Sábato
Susana Benet
He Ping Yeo
ResearchOpen Access22 Mar 2025
Scientific Reports

Volume: 15, P: 1-16
Passively sensing smartphone use in teens with rates of use by sex and across operating systems

Jordan D. Alexander
Janosch Linkersdörfer
Natasha E. Wade
ResearchOpen Access03 Aug 2024
Scientific Reports

Volume: 14, P: 1-13
Scale-dependent responses to environmental fluctuations in tropical tree species’ crown temperatures

Tree temperatures in tropical forests show distinct responses to external changes at leaf and crown levels, with crown temperatures being less sensitive due to canopy structure modulation, as revealed by high-resolution thermal, hyperspectral, and LiDAR imagery and field surveys of 652 trees

Shannon L. J. Bayliss
Eben N. Broadbent
Stephanie Pau
ResearchOpen Access18 Jan 2025
Communications Earth & Environment

Volume: 6, P: 1-10
A clinical consensus guideline for nutrition in infants with congenital diaphragmatic hernia from birth through discharge

Patrick Sloan
Sandy Johng
Sarah Keene
Research16 Apr 2024
Journal of Perinatology

Volume: 44, P: 694-701
Social distancing and extremely preterm births in the initial COVID-19 pandemic period

Vivek V. Shukla
Benjamin A. Carper
Kathryn D. Woodbury
ResearchOpen Access22 Feb 2024
Journal of Perinatology

Volume: 44, P: 1050-1057
Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

Chloe Mighton
Lindsay Carlsson
Kevin Thorpe
Research08 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1008-1017
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays

Kajal Biswas
Gary B. Lipton
Shyam K. Sharan
ResearchOpen Access08 Dec 2020
npj Genomic Medicine

Volume: 5, P: 1-16
Tumor associated endothelial expression of B7-H3 predicts survival in ovarian carcinomas

Xingxing Zang
Peggy S Sullivan
James P Allison
Research21 May 2010
Modern Pathology

Volume: 23, P: 1104-1112
Publisher Correction: Identification of 371 genetic variants for age at first sex and birth linked to externalising behavior

Melinda C. Mills
Felix C. Tropf
Felix R. Day
Amendments and Corrections28 Jul 2021
Nature Human Behaviour

Volume: 5, P: 1111
Use of term reference infants in assessing the developmental outcome of extremely preterm infants: lessons learned in a multicenter study

Charles E. Green
Jon E. Tyson
Kimberlee Weaver-Lewis
ResearchOpen Access04 Aug 2023
Journal of Perinatology

Volume: 43, P: 1398-1405
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
Plasma proteins related to inflammatory diet predict future cognitive impairment

Michael R. Duggan
Lauren Butler
Keenan A. Walker
ResearchOpen Access03 Feb 2023
Molecular Psychiatry

Volume: 28, P: 1599-1609
An automated liquid jet for fluorescence dosimetry and microsecond radiolytic labeling of proteins

A high-speed liquid jet delivery system improves the X-ray footprinting and mass spectrometry method to label proteins for structural studies.

Matthew Rosi
Brandon Russell
Corie Y. Ralston
ResearchOpen Access25 Aug 2022
Communications Biology

Volume: 5, P: 1-10
A cocktail of human monoclonal antibodies broadly neutralizes North American rabies virus variants as a promising candidate for rabies post-exposure prophylaxis

Monir Ejemel
Todd G. Smith
Yang Wang
ResearchOpen Access07 Jun 2022
Scientific Reports

Volume: 12, P: 1-11
Spatiotemporal changes in influenza A virus prevalence among wild waterfowl inhabiting the continental United States throughout the annual cycle

Cody M. Kent
Andrew M. Ramey
Diann J. Prosser
ResearchOpen Access29 Jul 2022
Scientific Reports

Volume: 12, P: 1-10
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
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
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
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
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
Population epidemiology and concordance for plasma amino acids and precursors in 11–12-year-old children and their parents

Stephanie Andraos
Katherine Lange
Justin M. O’Sullivan
ResearchOpen Access11 Feb 2021
Scientific Reports

Volume: 11, P: 1-11
Can adult polygenic scores improve prediction of body mass index in childhood?

Katherine Lange
Jessica A. Kerr
Richard Saffery
Research03 May 2022
International Journal of Obesity

Volume: 46, P: 1375-1383
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lisa Lenaerts
Sara Reynhout
Veerle Janssens
ResearchOpen Access27 Oct 2020
Genetics in Medicine

Volume: 23, P: 352-362
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
Neural responsivity to social rewards in autistic female youth

Katherine E. Lawrence
Leanna M. Hernandez
Julie Wolf
ResearchOpen Access02 Jun 2020
Translational Psychiatry

Volume: 10, P: 1-12
DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

Elise L. V. Malavasi
Kyriakos D. Economides
J. Kirsty Millar
ResearchOpen Access06 Sept 2018
Translational Psychiatry

Volume: 8, P: 1-16
Quality of life drives patients’ preferences for secondary findings from genomic sequencing

Chloe Mighton
Lindsay Carlsson
Kevin E. Thorpe
Research18 May 2020
European Journal of Human Genetics

Volume: 28, P: 1178-1186
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
Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses

Eun Young Kang
Dane Cheasley
Kylie L. Gorringe
Research28 Jul 2020
Modern Pathology

Volume: 34, P: 194-206
Real-time metabolic profiling of oesophageal tumours reveals an altered metabolic phenotype to different oxygen tensions and to treatment with Pyrazinib

Amy M. Buckley
Margaret R. Dunne
Jacintha O’Sullivan
ResearchOpen Access21 Jul 2020
Scientific Reports

Volume: 10, P: 1-16
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
Incidence of neonatal hypertension from a large multicenter study [Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates—AWAKEN]

Emily J. Kraut
Louis J. Boohaker
Michael Zappitelli
Research23 May 2018
Pediatric Research

Volume: 84, P: 279-289
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Jialiang Yang
Tao Huang
Nicole C. Lockhart
ResearchOpen Access19 Oct 2015
Scientific Reports

Volume: 5, P: 1-16
Slit-Robo GTPase-Activating Protein 2 as a metastasis suppressor in osteosarcoma

Tracy A. Marko
Ghaidan A. Shamsan
David A. Largaespada
ResearchOpen Access14 Dec 2016
Scientific Reports

Volume: 6, P: 1-11
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
A genome-wide association study of anorexia nervosa

V Boraska
C S Franklin
C M Bulik
Research11 Feb 2014
Molecular Psychiatry

Volume: 19, P: 1085-1094
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
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Gisella Figlioli
Amandine Billaud
Paolo Peterlongo
ResearchOpen Access27 Jan 2023
European Journal of Human Genetics

Volume: 31, P: 578-587
AusTraits, a curated plant trait database for the Australian flora

Daniel Falster
Rachael Gallagher
Kasia Ziemińska
ResearchOpen Access30 Sept 2021
Scientific Data

Volume: 8, P: 1-20
No evidence for viral small RNA production and antiviral function of Argonaute 2 in human cells

Susan Schuster
Gijs J. Overheul
Ronald P. van Rij
ResearchOpen Access24 Sept 2019
Scientific Reports

Volume: 9, P: 1-11

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