American Journal of Medical Genetics Part B: Neuropsychiatric Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Phelan ‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan‐McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan‐McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype–genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcome...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Cartik Kothari, Maxime Wack, Claire Hassen ‐Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J. Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach Tags: RESEARCH ARTICLE Source Type: research

Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome
This study adds to accumulating evidence of the value of telomere length, as an early biomarker of AD progression in adults with Down syndrome. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 30, 2017 Category: Genetics & Stem Cells Authors: Edmund C. Jenkins, Elaine J. Marchi, Milen T. Velinov, Lingling Ye, Sharon J. Krinsky ‐McHale, Warren B. Zigman, Nicole Schupf, Wayne P. Silverman Tags: RESEARCH ARTICLE Source Type: research

Genome ‐wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type
Studies have suggested that Research Diagnostic Criteria for Schizoaffective Disorder Bipolar type (RDC‐SABP) might identify a more genetically homogenous subgroup of bipolar disorder. Aiming to identify loci associated with RDC‐SABP, we have performed a replication study using independent RDC‐SABP cases (n = 144) and controls (n = 6,559), focusing on the 10 loci that reached a p‐value <10−5 for RDC‐SABP in the Wellcome Trust Case Control Consortium (WTCCC) bipolar disorder sample. Combining the WTCCC and replication datasets by meta‐analysis (combined RDC‐SABP, n = 423, controls, n = 9,4...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 29, 2017 Category: Genetics & Stem Cells Authors: Elaine K. Green, Arianna Di Florio, Liz Forty, Katherine Gordon ‐Smith, Detelina Grozeva, Christine Fraser, Alexander L. Richards, Jennifer L. Moran, Shaun Purcell, Pamela Sklar, George Kirov, Michael J. Owen, Michael C. O'Donovan, Nick Craddock, Lisa J Tags: RESEARCH ARTICLE Source Type: research

The clinical features of alcohol use disorders in biological and step ‐fathers that predict risk for alcohol use disorders in offspring
Given that Alcohol Use Disorder (AUD) is clinically heterogeneous, can we, in a large epidemiological sample using public registries, identify clinical features of AUD cases in biological and step‐fathers that index, respectively, genetic and familial‐environmental risk for AUD in their offspring? From all father‐offspring pairs where the father had AUD and the offspring was born 1960–1990, we identified not‐lived‐with (NLW) biological fathers (n = 38,376) and step‐father pairs (n = 9,711). The relationship between clinical and historical features of the father's AUD and risk for AUD in offspring was ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 29, 2017 Category: Genetics & Stem Cells Authors: Kenneth S. Kendler, Henrik Ohlsson, Alexis Edwards, Jan Sundquist, Kristina Sundquist Tags: RESEARCH ARTICLE Source Type: research

A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains
This large multi‐center study investigates the relationships between genetic risk for schizophrenia and bipolar disorder, and multi‐modal endophenotypes for psychosis. The sample included 4,242 individuals; 1,087 patients with psychosis, 822 unaffected first‐degree relatives of patients, and 2,333 controls. Endophenotypes included the P300 event‐related potential (N = 515), lateral ventricular volume (N = 798), and the cognitive measures block design (N = 3,089), digit span (N = 1,437), and the Ray Auditory Verbal Learning Task (N = 2,406). Data were collected across 11 sites in Europe and Austr...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 29, 2017 Category: Genetics & Stem Cells Authors: Siri Ranlund, Stella Calafato, Johan H. Thygesen, Kuang Lin, Wiepke Cahn, Benedicto Crespo ‐Facorro, Sonja M.C. de Zwarte, Álvaro Díez, Marta Di Forti, , Conrad Iyegbe, Assen Jablensky, Rebecca Jones, Mei‐Hua Hall, Rene Kahn, Luba Kalaydjieva, Eugen Tags: RESEARCH ARTICLE Source Type: research

Issue Information ‐ TOC
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 17, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 6, September 2017
COVER FIGURE The cover image, by Schahram Akbarian et al., is based on the Review Article The Epigenomics of Schizophrenia, in the Mouse, DOI: 10.1002/ajmg.b.32566. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 17, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Lack of TMEM230 mutations in patients with familial and sporadic Parkinson's disease in a Taiwanese population
Mutations in transmembrane protein 230 (TMEM230) have recently been reported to be associated with Parkinson's disease (PD) in a North American population. A highly prevalent mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5) was found in 3.1% of Chinese familial PD patients. However, subsequent studies failed to replicate these findings in different populations. Our objective was to confirm the role of this gene in a large number of PD patients and controls in a Taiwanese population. Among 1,672 participants, we sequenced all coding exons and exon–intron boundary junctions of the TMEM230 gene in 180 probands with fa...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 2, 2017 Category: Genetics & Stem Cells Authors: Tian ‐Sin Fan, Chin‐Hsien Lin, Hang‐I Lin, Meng‐Ling Chen, Ruey‐Meei Wu Tags: RESEARCH ARTICLE Source Type: research

The dopamine transporter role in psychiatric phenotypes
The dopamine transporter (DAT) is one of the most relevant and investigated neurotransmitter transporters. DAT is a plasma membrane protein which plays a homeostatic role, controlling both extracellular and intracellular concentrations of dopamine (DA). Since unbalanced DA levels are known to be involved in numerous mental disorders, a wealth of investigations has provided valuable insights concerning DAT role into normal brain functioning and pathological processes. Briefly, this extensive but non‐systematic review discusses what is recently known about the role of SLC6A3 gene which encodes the dopamine transporter in p...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 2, 2017 Category: Genetics & Stem Cells Authors: Ang élica Salatino‐Oliveira, Luis A. Rohde, Mara H. Hutz Tags: REVIEW ARTICLE Source Type: research

Epigenome ‐wide association of PTSD from heterogeneous cohorts with a common multi‐site analysis pipeline
The objective of this consortium is to increase the analytical sample size by pooling data and combining expertise so that DNA methylation patterns associated with PTSD can be identified. Several quality control and analytical pipelines were evaluated for their control of genomic inflation and technical artifacts with a joint analysis procedure established to derive comparable data over the cohorts for meta‐analysis. We propose methods to deal with ancestry population stratification and type I error inflation and discuss the advantages and disadvantages of applying robust error estimates. To evaluate our pipeline, we rep...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 10, 2017 Category: Genetics & Stem Cells Authors: Andrew Ratanatharathorn, Marco P. Boks, Adam X. Maihofer, Allison E. Aiello, Ananda B. Amstadter, Allison E. Ashley ‐Koch, Dewleen G. Baker, Jean C. Beckham, Evelyn Bromet, Michelle Dennis, Melanie E. Garrett, Elbert Geuze, Guia Guffanti, Michael A. Hau Tags: RESEARCH ARTICLE Source Type: research

National ‐scale precision medicine for psychiatric disorders in Sweden
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Authors: Sarah E. BergenPhD , Patrick F. SullivanMD, FRANZCP Source Type: research

eHealth provides a novel opportunity to exploit the advantages of the Nordic countries in psychiatric genetic research, building on the public health care system, biobanks, and registries
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Authors: Ole A. Andreassen Source Type: research