American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 
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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.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 expressive language, alth...
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 into likely...
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 using lin...
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
