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Showing 51–83 of 83 results

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Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

Evan Eichler and colleagues present a detailed characterization of the chromosome 15q13.3 microdeletion region. They identify complex structural polymorphisms and find that the rearrangement breakpoints cluster in palindromic GOLGA8 core duplicons, providing evidence that this repeat and its palindromic architecture underlie the evolutionary and disease-related instability of this region.

Francesca Antonacci
Megan Y Dennis
Evan E Eichler
Research19 Oct 2014
Nature Genetics

Volume: 46, P: 1293-1302
Hippocampal immunostaining of CCK-GAD1 transgenic mice

M J Schmidt
S Horvath
K Mirnics
Research23 Apr 2014
Molecular Psychiatry

Volume: 19, P: 529
The molecular basis of thioalcohol production in human body odour

Michelle Rudden
Reyme Herman
Gavin H. Thomas
ResearchOpen Access27 Jul 2020
Scientific Reports

Volume: 10, P: 1-14
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Pritesh Jain
Tyne Miller-Fleming
Peristera Paschou
ResearchOpen Access23 Feb 2023
Translational Psychiatry

Volume: 13, P: 1-10
Genetic Approach to Facilitate Purification of Recombinant Proteins with a Novel Metal Chelate Adsorbent

E. Hochuli
W. Bannwarth
D. Stüber
Research01 Nov 1988
Bio/Technology

Volume: 6, P: 1321-1325
Association of Multiple DRD2 Polymorphisms with Anorexia Nervosa

Andrew W Bergen
Meredith Yeager
Walter H Kaye
Research25 May 2005
Neuropsychopharmacology

Volume: 30, P: 1703-1710
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

S Hong Lee
Stephan Ripke
Naomi R Wray
Research11 Aug 2013
Nature Genetics

Volume: 45, P: 984-994
Additional evidence for an association between the dopamine D4 receptor (D4DR) exon III repeat polymorphism and the human personality trait of Novelty Seeking

R P Ebstein
L Nemanov
R H Belmaker
Research01 Oct 1997
Molecular Psychiatry

Volume: 2, P: 472-477
Effects of oral ingestion of sucralose on gut hormone response and appetite in healthy normal-weight subjects

H E Ford
V Peters
S R Bloom
Research19 Jan 2011
European Journal of Clinical Nutrition

Volume: 65, P: 508-513
Reporting guidelines for human microbiome research: the STORMS checklist

The STORMS tool provides guidance for concise and complete reporting of microbiome studies to facilitate manuscript preparation, peer review, reader comprehension of publications, and comparative analysis of published results.

Chloe Mirzayi
Audrey Renson
Levi Waldron
Reviews17 Nov 2021
Nature Medicine

Volume: 27, P: 1885-1892
Evidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder

C J McDougle
C N Epperson
J Gelernter
Research29 May 1998
Molecular Psychiatry

Volume: 3, P: 270-273
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Exome sequencing on a large cohort of parent–child trios with sporadic autism spectrum disorders shows that de novo point mutations are mainly paternal in origin and positively correlate with paternal age, and identifies a highly interconnected network formed from the products of the most severe mutations.

Brian J. O’Roak
Laura Vives
Evan E. Eichler
Research04 Apr 2012
Nature

Volume: 485, P: 246-250
De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Rare de novo single nucleotide variants in brain-expressed genes are found to be associated with autism spectrum disorders and to carry large effects.

Stephan J. Sanders
Michael T. Murtha
Matthew W. State
Research04 Apr 2012
Nature

Volume: 485, P: 237-241
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with de novo variants to contribute to ASD risk.

Daniel J Weiner
Emilie M Wigdor
Elise B Robinson
Research15 May 2017
Nature Genetics

Volume: 49, P: 978-985
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay

Senwei Tan
Qiumeng Zhang
Hui Guo
Research29 Oct 2024
Molecular Psychiatry

Volume: 30, P: 1952-1965
The effect of succinate on brain NADH/NAD⁺ redox state and high energy phosphate metabolism in acute traumatic brain injury

Matthew G. Stovell
Marius O. Mada
Keri L. H. Carpenter
ResearchOpen Access24 Jul 2018
Scientific Reports

Volume: 8, P: 1-11
Metagenomics of pigmented and cholesterol gallstones: the putative role of bacteria

S. H. Kose
K. Grice
M. J. L. Coolen
ResearchOpen Access25 Jul 2018
Scientific Reports

Volume: 8, P: 1-13
Space- and time-resolved investigation on diffusion kinetics of human skin following macromolecule delivery by microneedle arrays

Jonathan C. J. Wei
Isha N. Haridass
Mark A. F. Kendall
ResearchOpen Access10 Dec 2018
Scientific Reports

Volume: 8, P: 1-15
Cerebrospinal Fluid Biogenic Amines in Obsessive Compulsive Disorder, Tourette's Syndrome, and Healthy Controls

James F Leckman
Wayne K Goodman
Lawrence H Price
Research25 Jul 2003
Neuropsychopharmacology

Volume: 12, P: 73-86
Synaptic processes and immune-related pathways implicated in Tourette syndrome

Fotis Tsetsos
Dongmei Yu
Samuel Zinner
ResearchOpen Access18 Jan 2021
Translational Psychiatry

Volume: 11, P: 1-12
Dopamine DRD4 receptor polymorphism and attention deficit hyperactivity disorder

D C Rowe
C Stever
I D Waldman
Research28 Sept 1998
Molecular Psychiatry

Volume: 3, P: 419-426
Genetic Association of Recovery from Eating Disorders: The Role of GABA Receptor SNPs

Cinnamon S Bloss
Wade Berrettini
Walter H Kaye
Research13 Jul 2011
Neuropsychopharmacology

Volume: 36, P: 2222-2232
Amphibian skin may select for rare environmental microbes

Jenifer B Walke
Matthew H Becker
Lisa K Belden
Research23 May 2014
The ISME Journal

Volume: 8, P: 2207-2217
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Klaus Schmitz-Abe
Guzman Sanchez-Schmitz
Kyriacos Markianos
ResearchOpen Access20 Aug 2020
Scientific Reports

Volume: 10, P: 1-15
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen
Alexander Hoischen
Bert B. A. de Vries
Research05 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 54-63
Parasitism and the retrotransposon life cycle in plants: a hitchhiker's guide to the genome

F Sabot
A H Schulman
Reviews20 Sept 2006
Heredity

Volume: 97, P: 381-388
Modulation of behavioral networks by selective interneuronal inactivation

M J Schmidt
S Horvath
K Mirnics
Research10 Dec 2013
Molecular Psychiatry

Volume: 19, P: 580-587
Synaptonemal complex karyotype of zebrafish

B M N Wallace
H Wallace
Research28 Feb 2003
Heredity

Volume: 90, P: 136-140
Rare structural variation of synapse and neurotransmission genes in autism

X Gai
H M Xie
P S White
ResearchOpen Access01 Mar 2011
Molecular Psychiatry

Volume: 17, P: 402-411
Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants

M G Hohenadel
M S Thearle
J C Han
Research26 Nov 2013
International Journal of Obesity

Volume: 38, P: 1068-1074
Candidate genes for anorexia nervosa in the 1p33–36 linkage region: serotonin 1D and delta opioid receptor loci exhibit significant association to anorexia nervosa

A W Bergen
M B M van den Bree
W H Kaye
Research09 May 2003
Molecular Psychiatry

Volume: 8, P: 397-406
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

B W M van Bon
B P Coe
E E Eichler
Research24 Feb 2015
Molecular Psychiatry

Volume: 21, P: 126-132
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

D Moreno-De-Luca
S J Sanders
D H Ledbetter
ResearchOpen Access09 Oct 2012
Molecular Psychiatry

Volume: 18, P: 1090-1095

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