Cover Image, Volume 177B, Number 8, December 2018
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 25, 2018 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Issue Information ‐ TOC
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 8, Page 685-686, December 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 25, 2018 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

The involvement of the canonical Wnt ‐signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta‐analysis
Wnt ‐signaling is one of the most abundant pathways involved in processes such as cell‐proliferation, ‐polarity, and ‐differentiation. Altered Wnt‐signaling has been linked with several neurodevelopmental disorders including attention‐deficit/hyperactivity disorder (ADHD) as well as with cog nitive functions, learning and memory. Particularly, lipoprotein receptor‐related protein 5 (LRP5) or LRP6 coreceptors, responsible in the activation of the canonical Wnt‐pathway, were associated with cognitive alterations in psychiatric disorders. Following the hypothesis of Wnt involvement in ADHD, we investigated the...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 25, 2018 Category: Genetics & Stem Cells Authors: Edna Gr ünblatt, Zsofia Nemoda, Anna Maria Werling, Alexander Roth, Nora Angyal, Zsanett Tarnok, Hauke Thomsen, Triinu Peters, Anke Hinney, Johannes Hebebrand, Klaus‐Peter Lesch, Marcel Romanos, Susanne Walitza Tags: RESEARCH ARTICLE Source Type: research

Sequence variants in muscle tissue ‐related genes may determine the severity of muscle contractures in cerebral palsy
AbstractMuscle contractures are a common complication to cerebral palsy (CP). The purpose of this study was to evaluate whether individuals with CP carry specific gene variants of important structural genes that might explain the severity of muscle contractures. Next ‐generation‐sequencing (NGS) of 96 candidate genes associated with muscle structure and metabolism were analyzed in 43 individuals with CP (Gross Motor Function classification system [GMFCS] I,n=10; GMFCS II,n=14; GMFCS III,n=19) and four control participants. In silico analysis of the identified variants was performed. The variants were classified into fo...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 23, 2018 Category: Genetics & Stem Cells Authors: Jessica Pingel, Jeppe Dyrberg Andersen, Sofie Lindgren Christiansen, Claus B ørsting, Niels Morling, Jakob Lorentzen, Henrik Kirk, Simon Doessing, Christian Wong, Jens Bo Nielsen Tags: RESEARCH ARTICLE Source Type: research

Aberrant transcriptomes and DNA methylomes define pathways that drive pathogenesis and loss of brain laterality/asymmetry in schizophrenia and bipolar disorder
Although the loss of brain laterality is one of the most consistent modalities in schizophrenia (SCZ) and bipolar disorder (BD), its molecular basis remains elusive. Our limited previous studies indicated that epigenetic modifications are key to the asymmetric transcriptomes of brain hemispheres. We used whole ‐genome expression microarrays to profile postmortem brain samples from subjects with SCZ, psychotic BD [BD[+]] or non‐psychotic BD [BD(−)], or matched controls (10/group) and performed whole‐genome DNA methylation (DNAM) profiling of the same samples (3‐4/group) to identify pathways assoc iated with SC...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 23, 2018 Category: Genetics & Stem Cells Authors: Hamid M. Abdolmaleky, Adam C. Gower, Chen ‐Khuan Wong, Jiayi W. Cox, Xiaoling Zhang, Arunthathi Thiagalingam, Rahim Shafa, Vadivelu Sivaraman, Jin‐Rong Zhou, Sam Thiagalingam Tags: ORIGINAL ARTICLE Source Type: research

Italian validation of the functional difficulties questionnaire (FDQ ‐9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder
The 2017 nosology defines the new criteria for hypermobile Ehlers –Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ‐9) is one of the few available tools. The aims of this study are to (a) validate FDQ‐9 written in Italian...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 23, 2018 Category: Genetics & Stem Cells Authors: Silvia Morlino, Chiara Dordoni, Isabella Sperduti, Carol J. Clark, Caterina Piedimonte, Andrea Fontana, Marina Colombi, Paola Grammatico, Massimiliano Copetti, Marco Castori Tags: RESEARCH ARTICLE Source Type: research

Sex differences in the genetic architecture of obsessive –compulsive disorder
We present the first genome‐wide characterization of the sex‐specific genetic architecture of OCD, utilizing the largest set of OCD cases and controls available from the Psychiatric Genomics Consortium. We assessed evidence for several mechanisms that may contribute to sex differences including a sex‐dependent liability threshold, the presence of individual sex‐specific risk variants on the autosomes and the X chromosome, and sex‐specific pleiotropic effects. Furthermore, we tested the hypothesis that genetic heterogeneity between the sexes may obscure associations in a sex‐combined genome‐wide association st...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 20, 2018 Category: Genetics & Stem Cells Authors: Ekaterina A. Khramtsova, Raphael Heldman, Eske M. Derks, Dongmei Yu, Tourette Syndrome/Obsessive ‐Compulsive Disorder Working Group of the Psychiatric Genomics Consortium, Lea K. Davis, Barbara E. Stranger Tags: ORIGINAL ARTICLE Source Type: research

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability
In conclusion, our findings support the possible role of CNKSR1 in brain development which can lead to cognitive impairment. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 18, 2018 Category: Genetics & Stem Cells Authors: Somayeh Kazeminasab, Ibrahim Ihsan Taskiran, Zohreh Fattahi, Niloofar Bazazzadegan, Masoumeh Hosseini, Maryam Rahimi, Morteza Oladnabi, Mohammad Haddadi, Arzu Celik, Hans ‐Hilger Ropers, Hossein Najmabadi, Kimia Kahrizi Tags: RESEARCH ARTICLE Source Type: research

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome
AbstractChromosome 22q11.2 deletion syndrome (22q11DS) is associated with impairment in multiple domains of cognition and risk for several psychiatric disorders. Musical auditory processing is highly heritable, and is impaired in individuals with schizophrenia and other neurodevelopmental disorders, but has never been studied in 22q11DS, notwithstanding anecdotal evidence of its sparing. We aimed to characterize musical auditory processing in 22q11DS and explore potential relationships with other cognitive domains, musical engagement, and psychiatric disorders. The Distorted Tunes Task and Global Musical Sophistication Ind...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 16, 2018 Category: Genetics & Stem Cells Authors: Lucy Gao, Sunny X. Tang, James J. Yi, Donna M. McDonald ‐McGinn, Elaine H. Zackai, Beverly S. Emanuel, Ruben C. Gur, Monica E. Calkins, Raquel E. Gur Tags: RESEARCH ARTICLE Source Type: research

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
AbstractProtein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations inPSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). We performed WES on six affected siblings from a multiplex family with ID and autistic features, the affected father, and two unaffected mothers, and a trio from a simplex family with one affe...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 13, 2018 Category: Genetics & Stem Cells Authors: Raida Khalil, Connor Kenny, R. Sean Hill, Ganeshwaran H. Mochida, Ramzi Nasir, Jennifer N. Partlow, Brenda J. Barry, Muna Al ‐Saffar, Chloe Egan, Christine R. Stevens, Stacey B. Gabriel, A. James Barkovich, Jay W. Ellison, Lihadh Al‐Gazal Tags: ORIGINAL ARTICLE Source Type: research

Cover Image, Volume 177B, Number 7, October 2018
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Issue Information ‐ TOC
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 7, Page 597-598, October 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Introduction to special section on Leveraging Electronic Health Records for psychiatric genetic research
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 7, Page 599-600, October 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: Anjen é M. Addington Tags: EDITORIAL Source Type: research

Genetic correlations among psychiatric and immune ‐related phenotypes based on genome‐wide association data
We report significantly correlated loci and highlight those containing genome‐wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations among the immune‐related phenotypes. We discuss our findings in the conte xt of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: Daniel S. Tylee, Jiayin Sun, Jonathan L. Hess, Muhammad A. Tahir, Esha Sharma, Rainer Malik, Bradford B. Worrall, Andrew J. Levine, Jeremy J. Martinson, Sergey Nejentsev, Doug Speed, Annegret Fischer, Eric Mick, Brian R. Walker, Andrew Crawf Tags: RESEARCH ARTICLE Source Type: research

Convergent analysis of genome ‐wide genotyping and transcriptomic data suggests association of zinc finger genes with lithium response in bipolar disorder
In this study, we applied an integrated analytical approach using genome ‐wide expression and genotyping data from BD patients to identify lithium‐responsive genes that may serve as biomarkers of its efficacy. To this purpose, we tested the effect of treatment with lithium chloride 1 mM on the transcriptome of lymphoblasts from 10 lithium responders (LR) and 10 nonre sponders (NR) patients and identified genes significantly influenced by the treatment exclusively in LR. These findings were integrated with gene‐based analysis on genome‐wide genotyping data from an extended sample of 205 BD patients characterized for...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: Claudia Pisanu, Donatella Congiu, Marta Costa, Caterina Chillotti, Raffaella Ardau, Giovanni Severino, Andrea Angius, Urs Heilbronner, Liping Hou, Francis J. McMahon, Thomas G. Schulze, Maria Del Zompo, Alessio Squassina Tags: RESEARCH ARTICLE Source Type: research

Ethnic variation of IL ‐4 intron 3 VNTR gene polymorphism; its association with type 2 diabetes mellitus and its complication (neuropathy) in Egyptian subjects
This study aimed to investigate the association ofIL ‐4 VNTR gene polymorphism with T2DM complicated with neuropathy in Egyptian subjects. This is a case control study including 102 T2DM Egyptian patients, plus 188 unrelated healthy individuals as controls. They were evaluated for variable number tandem repeat (VNTR); 70 base pair repeats located in the intron 3; ofIL ‐4 gene using the PCR technique. Homozygote frequency of the three ‐repeat allele (A1/A1) genotype ofIL ‐4 VNTR was nearly equal among diabetic cases and controls (60.8% vs. 62.2%, respectively). Heterozygous frequency of (A1/A2) genotype was higher a...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: R. Ali, A. El ‐Said, H. El‐Baz, A. Settin Tags: RESEARCH ARTICLE Source Type: research

“Like parent, like child”: Attention deficit hyperactivity disorder‐like characteristics in parents of ADHD cases
The objective of this study was to characterize an attention deficit hyperactivity disorder (ADHD) endophenotype in non ‐affected parents of adolescents with a history of ADHD, based on the relationship between performance on a sustained attention test (continuous performance task, or CPT) and polymorphisms of theDRD4 gene. In a sample of 25 non ‐affected parents of adolescents with ADHD history obtained from a longitudinal study of a nonclinical population, and 25 non‐affected parents of adolescents with no ADHD history, four groups were evaluated with respect to the presence or absence of the long allele polymorphi...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: Salvador Trejo, Esmeralda Matute, Mar ía de Lourdes Ramírez‐Dueñas, Adriana P. Mendizabal‐Ruiz, Yaira Chamorro, José A. Morales Tags: RESEARCH ARTICLE Source Type: research

Biobehavioral composite of social aspects of anxiety in young adults with fragile X syndrome contrasted to autism spectrum disorder
Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndrome and those with autism spectrum disorder. Measuring social anxiety in these clinical subgroups is fraught with challenge, however, given the complexity of social anxiety and measurement limitations that are particularly acute in persons with neurodevelopmental disorders. The over ‐arching aim of this study was to contribute to our understanding of the nature of social anxiety in fragile X syndrome and its association with...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: Jane E. Roberts, Jordan E. Ezell, Amanda J. Fairchild, Jessica Klusek, Angela J. Thurman, Andrea McDuffie, Leonard Abbeduto Tags: RESEARCH ARTICLE Source Type: research

Cover Image, Volume 177B, Number 7, October 2018
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Issue Information ‐ TOC
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 7, Page 597-598, October 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

DRD4 methylation as a potential biomarker for physical aggression: An epigenome ‐wide, cross‐tissue investigation
AbstractEpigenetic processes that regulate gene expression, such as DNA methylation (DNAm), have been linked to individual differences in physical aggression. Yet, it is currently unclear whether: (a) DNAm patterns in humans associate with physical aggression independently of other co ‐occurring psychiatric and behavioral symptoms; (b) whether these patterns are observable across multiple tissues; and (c) whether they may function as a causal versus noncausal biomarker of physical aggression. Here, we used a multisample, cross‐tissue design to address these questions. First, we examined genome‐wide DNAm patterns (buc...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 9, 2018 Category: Genetics & Stem Cells Authors: Charlotte A. M. Cecil, Esther Walton, Jean ‐Baptiste Pingault, Nadine Provençal, Irene Pappa, Frank Vitaro, Sylvana Côté, Moshe Szyf, Richard E. Tremblay, Henning Tiemeier, Essi Viding, Eamon J. McCrory Tags: RESEARCH ARTICLE Source Type: research

Biomarkers for major depressive and bipolar disorders using metabolomics: A systematic review
AbstractMajor depressive disorder (MDD) and bipolar disorder (BD) lack robust biomarkers useful for screening purposes in a clinical setting. A systematic review of the literature was conducted on metabolomic studies of patients with MDD or BD through the use of analytical platforms such as in vivo brain imaging, mass spectrometry, and nuclear magnetic resonance. Our search identified a total of 7,590 articles, of which 266 articles remained for full ‐text revision. Overall, 249 metabolites were found to be dysregulated with 122 of these metabolites being reported in two or more of the studies included. A list of biomark...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 8, 2018 Category: Genetics & Stem Cells Authors: Kellie MacDonald, Ankur Krishnan, Emily Cervenka, Grace Hu, Elena Guadagno, Yannis Trakadis Tags: RESEARCH REVIEW Source Type: research

Introduction to special section on Leveraging Electronic Health Records for psychiatric genetic research
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 - November 1, 2018 Category: Genetics & Stem Cells Authors: Anjen é M. Addington Source Type: research

Gene ‐level associations in suicide attempter families show overrepresentation of synaptic genes and genes differentially expressed in brain development
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 - November 1, 2018 Category: Genetics & Stem Cells Authors: Marcus Sokolowski, Jerzy Wasserman, Danuta Wasserman Source Type: research

Gene ‐level associations in suicide attempter families show overrepresentation of synaptic genes and genes differentially expressed in brain development
AbstractSuicidal behavior (SB) has a complex etiology involving different polygenic and environmental components. Here we used an excess of significant markers (ESM) test to study gene ‐level associations in previous genome‐wide association studies (GWAS) SNP data from a family‐based sample, having medically severe suicide attempt (SA) as main outcome in the offspring. In SA without major psychiatric disorders (N = 498), a screening of 5,316 genes across the genome suggested association 17 genes (atfdr 
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 31, 2018 Category: Genetics & Stem Cells Authors: Marcus Sokolowski, Jerzy Wasserman, Danuta Wasserman Tags: ORIGINAL ARTICLE Source Type: research

Exome sequencing of sporadic childhood ‐onset schizophrenia suggests the contribution of X‐linked genes in males
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 - October 31, 2018 Category: Genetics & Stem Cells Authors: Amirthagowri Ambalavanan, Boris Chaumette, Sirui Zhou, Pingxing Xie, Qin He, Dan Spiegelman, Alexandre Dionne ‐Laporte, Cynthia V. Bourassa, Martine Therrien, Daniel Rochefort, Lan Xiong, Patrick A. Dion, Ridha Joober, Judith L. Rapoport, Source Type: research

Association of Alzheimer's genetic loci with mild behavioral impairment
Mild behavioral impairment (MBI) describes the emergence of later ‐life neuropsychiatric symptoms (NPS) as an at‐risk state for incident cognitive decline and dementia, and for some as a potential manifestation of prodromal dementia. How NPS mechanistically link to the development of mild cognitive impairment and Alzheimer's disease (AD) is not fully understoo d, with potential mechanisms including shared risk factors related to both NPS and cognitive impairment, or AD pathology promoting NPS. This is the first exploratory study to examine whether AD genetic loci as a genetic risk score (GRS), or individually, are a sh...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 30, 2018 Category: Genetics & Stem Cells Authors: Shea J. Andrews, Zahinoor Ismail, Kaarin J. Anstey, Moyra Mortby Tags: ORIGINAL ARTICLE Source Type: research

Exome sequencing of sporadic childhood ‐onset schizophrenia suggests the contribution of X‐linked genes in males
In conclusion, this article suggests that X ‐linked genes might play a role in the pathophysiology of COS. Candidate genes detailed here could explain the higher level of comorbidities and the earlier age of onset observed in a subset of the male COS cases. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 30, 2018 Category: Genetics & Stem Cells Authors: Amirthagowri Ambalavanan, Boris Chaumette, Sirui Zhou, Pingxing Xie, Qin He, Dan Spiegelman, Alexandre Dionne ‐Laporte, Cynthia V. Bourassa, Martine Therrien, Daniel Rochefort, Lan Xiong, Patrick A. Dion, Ridha Joober, Judith L. Rapoport, Tags: RESEARCH ARTICLE Source Type: research

Association of Alzheimer's genetic loci with mild behavioral impairment
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 - October 30, 2018 Category: Genetics & Stem Cells Authors: Shea J. Andrews, Zahinoor Ismail, Kaarin J. Anstey, Moyra Mortby Source Type: research

Psychiatric genetics researchers' views on offering return of results to individual participants
In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome ‐wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitati ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 25, 2018 Category: Genetics & Stem Cells Authors: Kristin M. Kostick, Cody Brannan, Stacey Pereira, Gabriel L ázaro‐Muñoz Tags: ORIGINAL ARTICLE Source Type: research

Characterization of speech and language phenotype in children with NRXN1 deletions
AbstractNeurexin 1 gene (NRXN1) deletions are associated with several neurodevelopmental disorders. Communication difficulties have been reported, yet no study has examined specific speech and language features of individuals withNRXN1 deletions. Here, we characterized speech and language phenotypes in 21 children (14 families), aged 1.8 –17 years, withNRXN1 deletions. Deletions ranged from 74 to 702  kb and consisted mostly of either exons 1–3 or 1–5. Speech sound disorders were frequent (69%), although few were severe. The majority (57%) of children had difficulty with receptive and/or exp...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 25, 2018 Category: Genetics & Stem Cells Authors: Amanda Brignell, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S. Hildebrand, David J. Amor, Angela T. Morgan Tags: RESEARCH ARTICLE Source Type: research

Characterization of speech and language phenotype in children with NRXN1 deletions
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 - October 25, 2018 Category: Genetics & Stem Cells Authors: Amanda Brignell, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S. Hildebrand, David J. Amor, Angela T. Morgan Source Type: research

Psychiatric genetics researchers' views on offering return of results to individual participants
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 - October 25, 2018 Category: Genetics & Stem Cells Authors: Kristin M. Kostick, Cody Brannan, Stacey Pereira, Gabriel L ázaro‐Muñoz Source Type: research

Blood ‐based dynamic genomic signature for obsessive–compulsive disorder
This study enrolled 77 patients with OCD, 67 controls with no psychiatric illness, 39 patients with MDD, and 40 with schizophrenia. An OCD‐specific gene signature was identified using blood gene expression analysis to construct a predictive model of OCD that can differentiate this disorder from healthy controls, MDD, and schizophrenia using a logistic regression algorithm. To verify that the genes selected were not derived as a result of chance, the algorithm was tested twice. First, the algorithm was used to predict the cohort with true disease/control status and second, the algorithm predicted the cohort with disease/c...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 23, 2018 Category: Genetics & Stem Cells Authors: Yuan Wang, Changming Cheng, Zongfeng Zhang, Jianyu Wang, Yao Wang, Xiaoping Li, Rui Gao, Zhen Wang, Yiru Fang, Jijun Wang, Min Wang, Qing Fan, Sanggetha Periya, Haiyin Zhang, Ming T. Tsuang, Choong ‐Chin Liew Tags: ORIGINAL ARTICLE Source Type: research

Blood ‐based dynamic genomic signature for obsessive–compulsive disorder
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 - October 23, 2018 Category: Genetics & Stem Cells Authors: Yuan Wang, Changming Cheng, Zongfeng Zhang, Jianyu Wang, Yao Wang, Xiaoping Li, Rui Gao, Zhen Wang, Yiru Fang, Jijun Wang, Min Wang, Qing Fan, Sanggetha Periya, Haiyin Zhang, Ming T. Tsuang, Choong ‐Chin Liew Source Type: research

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature
We report the case of two siblings presenting with failure to thrive in early years, progressive microcephaly, moderate intellectual disability, developmental delay, ataxic gait and seizures with an identical EEG pattern, and minimal cerebellar atrophy. We ruled out the syndromic and metabolic causes of microcephaly and subsequently conducted a panel of genetic diagnostic tests, including the clinical exome sequencing which revealed compound heterozygous mutations in MED 17 gene in both patients. p.Glu16fs was found to be inherited from the mother and p.Gly253Arg from the father. This case along with review of the literatu...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 22, 2018 Category: Genetics & Stem Cells Authors: Annalisa Agostini, Daniela Marchetti, Claudia Izzi, Isabella Cocco, Lorenzo Pinelli, Patrizia Accorsi, Rosaria Iascone Maria, Lucio Giordano Tags: ORIGINAL ARTICLE Source Type: research

Genotype –phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype
AbstractDarier disease (DD) is an autosomal dominant skin disorder caused by mutations inATP2A2 encoding the sarco/endoplasmic reticulum Ca2+ ATPase Isoform 2 (SERCA2). Evidence of a population ‐level association between DD and psychiatric disorders suggests that mutations inATP2A2 may have pleiotropic effects on the brain as well as skin. Evidence of genotype –phenotype relationships betweenATP2A2 mutations and neuropsychiatric phenotypes would further support this suggestion. We investigated genotype –phenotype correlations between lifetime neuropsychiatric features andATP2A2 mutation type (dichotomized int...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 22, 2018 Category: Genetics & Stem Cells Authors: Katherine Gordon ‐Smith, Elaine Green, Detelina Grozeva, Sherine Tavadia, Nick Craddock, Lisa Jones Tags: ORIGINAL ARTICLE Source Type: research

Genotype –phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype
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 - October 22, 2018 Category: Genetics & Stem Cells Authors: Katherine Gordon ‐Smith, Elaine Green, Detelina Grozeva, Sherine Tavadia, Nick Craddock, Lisa Jones Source Type: research

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature
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 - October 22, 2018 Category: Genetics & Stem Cells Authors: Annalisa Agostini, Daniela Marchetti, Claudia Izzi, Isabella Cocco, Lorenzo Pinelli, Patrizia Accorsi, Rosaria Iascone Maria, Lucio Giordano Source Type: research

“Like parent, like child”: Attention deficit hyperactivity disorder‐like characteristics in parents of ADHD cases
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 - October 19, 2018 Category: Genetics & Stem Cells Authors: Salvador Trejo, Esmeralda Matute, Mar ía de Lourdes Ramírez‐Dueñas, Adriana P. Mendizabal‐Ruiz, Yaira Chamorro, José A. Morales Source Type: research

DNA methylation of FKBP5 and response to exposure ‐based psychological therapy
Differential DNA methylation of the hypothalamic ‐pituitary‐adrenal axis related geneFKBP5 has recently been shown to be associated with varying response to environmental influences and may play a role in how well people respond to psychological treatments. Participants (n = 111) received exposure‐based cognitive behavioural therapy (CBT) for agoraphobia with or without panic disorder, or specific phobias. Percentage DNA methylation levels were measured for the promoter region and intron 7 ofFKBP5. The association between percentage reduction in clinical severity and change in DNA methylation was tested...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 18, 2018 Category: Genetics & Stem Cells Authors: Susanna Roberts, Robert Keers, Gerome Breen, Jonathan R. I. Coleman, Peter J öhren, Agnieszka Kepa, Kathryn J. Lester, Jürgen Margraf, Silvia Scheider, Tobias Teismann, André Wannemüller, Thalia C. Eley, Chloe C. Y. Wong Tags: RESEARCH ARTICLE Source Type: research

DNA methylation of FKBP5 and response to exposure ‐based psychological therapy
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 - October 18, 2018 Category: Genetics & Stem Cells Authors: Susanna Roberts, Robert Keers, Gerome Breen, Jonathan R. I. Coleman, Peter J öhren, Agnieszka Kepa, Kathryn J. Lester, Jürgen Margraf, Silvia Scheider, Tobias Teismann, André Wannemüller, Thalia C. Eley, Chloe C. Y. Wong Source Type: research

Genetic correlations among psychiatric and immune ‐related phenotypes based on genome‐wide association data
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 - October 16, 2018 Category: Genetics & Stem Cells Authors: Daniel S. Tylee, Jiayin Sun, Jonathan L. Hess, Muhammad A. Tahir, Esha Sharma, Rainer Malik, Bradford B. Worrall, Andrew J. Levine, Jeremy J. Martinson, Sergey Nejentsev, Doug Speed, Annegret Fischer, Eric Mick, Brian R. Walker, Andrew Crawf Source Type: research

Ethnic variation of IL ‐4 intron 3 VNTR gene polymorphism; its association with type 2 diabetes mellitus and its complication (neuropathy) in Egyptian subjects
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 - October 15, 2018 Category: Genetics & Stem Cells Authors: R. Ali, A. El ‐Said, H. El‐Baz, A. Settin Source Type: research

Convergent analysis of genome ‐wide genotyping and transcriptomic data suggests association of zinc finger genes with lithium response in bipolar disorder
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 - October 15, 2018 Category: Genetics & Stem Cells Authors: Claudia Pisanu, Donatella Congiu, Marta Costa, Caterina Chillotti, Raffaella Ardau, Giovanni Severino, Andrea Angius, Urs Heilbronner, Liping Hou, Francis J. McMahon, Thomas G. Schulze, Maria Del Zompo, Alessio Squassina Source Type: research

Copy number variation and neuropsychiatric problems in females and males in the general population
Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex ‐specific effects. We analyzed a sample ofN = 12,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3.0% had clinically...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 11, 2018 Category: Genetics & Stem Cells Authors: Joanna Martin, Kristiina Tammimies, Robert Karlsson, Yi Lu, Henrik Larsson, Paul Lichtenstein, Patrik K. E. Magnusson Tags: ORIGINAL ARTICLE Source Type: research