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Journals
American Journal of Medical Ge...
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#21
JOURNAL ARTICLE
James J Crowley, Carolina Cappi, Marcos E Ochoa-Panaifo, Renee M Frederick, Minjee Kook, Andrew D Wiese, Diana Rancourt, Elizabeth G Atkinson, Paola Giusti-Rodriguez, Jacey L Anderberg, Jonathan S Abramowitz, Victor R Adorno, Cinthia Aguirre, Gilberto S Alves, Gustavo S Alves, NaEshia Ancalade, Alejandro A Arellano Espinosa, Paul D Arnold, Daphne M Ayton, Izabela G Barbosa, Laura Marcela Barón Castano, Cynthia N Barrera, María Celeste Berardo, Dayan Berrones, John R Best, Tim B Bigdeli, Christie L Burton, Joseph D Buxbaum, Jennifer L Callahan, Maria Cecília B Carneiro, Sandra L Cepeda, Evelyn Chazelle, Jessica M Chire, Macarena Churruca Munoz, Pamela Claisse Quiroz, Journa Cobite, Jonathan S Comer, Daniel L Costa, Jennifer Crosbie, Victor O Cruz, Guillermo Dager, Luisa F Daza, Anabel de la Rosa-Gómez, Daniela Del Río, Fernanda Z Delage, Carolina B Dreher, Lucila Fay, Tomas Fazio, Ygor A Ferrão, Gabriela M Ferreira, Edith G Figueroa, Leonardo F Fontenelle, Diego A Forero, Daniele T H Fragoso, Bharathi S Gadad, Sheldon R Garrison, Andres González, Laura D Gonzalez, Marco A González, Polaris Gonzalez-Barrios, Wayne K Goodman, Dorothy E Grice, Jerry Guintivano, Daniel G Guttfreund, Andrew G Guzick, Matthew W Halvorsen, Joseph D Hovey, Hailiang Huang, Jonathan Irreño-Sotomonte, Reinhard Janssen-Aguilar, Matias Jensen, Alexandra Z Jimenez Reynolds, Joali Alexandra Juárez Lujambio, Nasim Khalfe, Madison A Knutsen, Caleb Lack, Nuria Lanzagorta, Monicke O Lima, Melanie O Longhurst, David A Lozada Martinez, Elba S Luna, Andrea H Marques, Molly S Martinez, Maria de Los Angeles Matos, Caitlyn E Maye, Joseph F McGuire, Gabriela Menezes, Charlene Minaya, Tomás Miño, Sara M Mithani, Circe Montes de Oca, Alonso Morales-Rivero, Maria E Moreira-de-Oliveira, Olivia J Morris, Sandra I Muñoz, Zainab Naqqash, Ambar A Núñez Bracho, Belinda E Núñez Bracho, Maria Corina Ochoa Rojas, Luis A Olavarria Castaman, Trinidad Olivos Balmaceda, Iliana Ortega, Darpan I Patel, Ainsley K Patrick, Mariel Paz Y Mino, Jose L Perales Orellana, Bárbara Perdigão Stumpf, Tamara Peregrina, Tania Pérez Duarte, Kelly L Piacsek, Maritza Placencia, María Belén Prieto, Lucas C Quarantini, Yana Quarantini-Alvim, Renato T Ramos, Iaroslava C Ramos, Vanessa R Ramos, Kesley A Ramsey, Elise V Ray, Margaret A Richter, Bradley C Riemann, Juan C Rivas, Maria C Rosario, Camilo J Ruggero, Angel A Ruiz-Chow, Alejandra Ruiz-Velasco, Melisa N Sagarnaga, Aline S Sampaio, Leonardo C Saraiva, Russell J Schachar, Sophie C Schneider, Ethan J Schweissing, Laura D Seligman, Roseli G Shavitt, Keaton J Soileau, S Evelyn Stewart, Shaina B Storch, Emily R Strouphauer, Vissente Tapia Cuevas, Kiara R Timpano, Beatriz Treviño-de la Garza, Alexie Vallejo-Silva, Javier Vargas-Medrano, María I Vásquez, Guadalupe Vidal Martinez, Saira A Weinzimmer, Mauricio A Yanez, Gwyneth Zai, Lina M Zapata-Restrepo, Luz M Zappa, Raquel M Zepeda-Burgos, Anthony W Zoghbi, Euripedes C Miguel, Carolyn I Rodriguez, Mayra C Martinez Mallen, Pablo R Moya, Tania Borda, María Beatriz Moyano, Manuel Mattheisen, Stacey Pereira, Gabriel Lázaro-Muñoz, Karen G Martinez-Gonzalez, Michele T Pato, Humberto Nicolini, Eric A Storch
Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long-sought risk loci, but >95% of the cases currently in analysis are of homogenous European ancestry. If not addressed, this Eurocentric bias will result in OCD genomic findings being more accurate for individuals of European ancestry than other ancestries, thereby contributing to health disparities in potential future applications of genomics...
November 9, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#22
REVIEW
Kenneth S Kendler, Astrid Klee
In 1936, Bruno Schulz published the first detailed, book-length review of the methodology of psychiatric genetic research, based on his experiences at the German Research Institute of Psychiatry. Emphasis is placed on proper selection of relatives and the ascertainment corrections required for Mendelian transmission models. Twin studies are considered as is the impact of reduced fertility on patterns of risk. For the field work, Schulz emphasizes the importance of trust-building, confidentiality, collateral informants, and the use of medical and other administrative records, all ideally stored in personal files...
November 6, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#23
JOURNAL ARTICLE
Alejandra Monserrat Rodríguez-Ramírez, Valente Cedillo-Ríos, Marco Antonio Sanabrais-Jiménez, Claudia Becerra-Palars, Sandra Hernández-Muñoz, Hiram Ortega-Ortíz, Beatriz Camarena-Medellin
Valproate is among the most prescribed drugs for bipolar disorder; however, 87% of patients do not report full long-term treatment response (LTTR) to this medication. One of valproate's suggested mechanisms of action involves the brain-derived neurotrophic factor (BDNF), expressed in the brain areas regulating emotions, such as the prefrontal cortex. Nonetheless, data about the role of BDNF in LTTR and its implications in the structure of the dorsolateral prefrontal cortex (dlPFC) is scarce. We explore the association of BDNF variants and dorsolateral cortical thickness (CT) with LTTR to valproate in bipolar disorder type I (BDI)...
November 3, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#24
JOURNAL ARTICLE
Diana Garro-Núñez, María Jesús Picado-Martínez, Erika Espinoza-Campos, Daniela Ugalde-Araya, Gabriel Macaya, Henriette Raventós, Gabriela Chavarría-Soley
Psychiatric disorders have a great impact in terms of mortality, morbidity, and disability across the lifespan. Considerable effort has been devoted to understanding their complex and heterogeneous genetic architecture, including diverse ancestry populations. Our aim was to review the psychiatric genetics research published with Latin American populations from 2010 to 2019, and classify it according to country of origin, type of analysis, source of funding, and other variables. We found that most publications came from Brazil, Mexico, and Colombia...
October 20, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#25
REVIEW
Kenneth S Kendler, Virginia Justis
Boven published, in 1915, his MD thesis at the University of Lausanne in which he examined 60 3- to 4-generation pedigrees ascertained from admitted patients with dementia praecox (DP) and manic-depressive insanity (MDI). He asked three questions: (i) were DP and MDI hereditary? (ii) were they the same or distinct conditions? and (iii) were they Mendelian disorders? Based on the rarity of environmental precipitants severe enough to cause disorder onset and the pattern of disorders in relatives, Boven concluded that both disorders were inherited...
October 19, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#26
REVIEW
David Mateo, Montse Marquès, José L Domingo, Margarita Torrente
Dementia is one of today's greatest public health challenges. Its high socio-economic impact and difficulties in diagnosis and treatment are of increasing concern to an aging world population. In recent years, the study of the relationship between gut microbiota and different neurocognitive disorders has gained a considerable interest. Several studies have reported associations between gut microbiota dysbiosis and some types of dementia. Probiotics have been suggested to restore dysbiosis and to improve neurocognitive symptomatology in these dementias...
October 18, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#27
REVIEW
Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
Dorinde Korteling, Jiska L I Musch, Janneke R Zinkstok, Erik Boot
Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11.2 deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11.2 region. Various psychiatric and neurological disorders have been reported in SMS, with most literature focusing on children and adolescents. To provide an overview of the current knowledge on this topic in adults with SMS, we performed a comprehensive scoping review of the relevant literature. Our findings suggest that many manifestations that are common in childhood persist into adulthood...
August 16, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#28
JOURNAL ARTICLE
Jonathan L Hess, Manuel Mattheisen, Tiffany A Greenwood, Ming T Tsuang, Howard J Edenberg, Peter Holmans, Stephen V Faraone, Stephen J Glatt
Identifying heritable factors that moderate the genetic risk for schizophrenia (SCZ) could help clarify why some individuals remain unaffected despite having relatively high genetic liability. Previously, we developed a framework to mine genome-wide association (GWAS) data for common genetic variants that protect high-risk unaffected individuals from SCZ, leading to derivation of the first-ever "polygenic resilience score" for SCZ (resilient controls n = 3786; polygenic risk score-matched SCZ cases n = 18,619)...
August 8, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#29
JOURNAL ARTICLE
Nikki Hubers, Fiona A Hagenbeek, René Pool, Sébastien Déjean, Amy C Harms, Peter J Roetman, Catharina E M van Beijsterveldt, Vassilios Fanos, Erik A Ehli, Robert R J M Vermeiren, Meike Bartels, Jouke Jan Hottenga, Thomas Hankemeier, Jenny van Dongen, Dorret I Boomsma
The evolving field of multi-omics combines data and provides methods for simultaneous analysis across several omics levels. Here, we integrated genomics (transmitted and non-transmitted polygenic scores [PGSs]), epigenomics, and metabolomics data in a multi-omics framework to identify biomarkers for Attention-Deficit/Hyperactivity Disorder (ADHD) and investigated the connections among the three omics levels. We first trained single- and next multi-omics models to differentiate between cases and controls in 596 twins (cases = 14...
August 3, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#30
JOURNAL ARTICLE
Valerie Morrill, Kelly Benke, John Brinton, Gnakub N Soke, Laura A Schieve, Victoria Fields, Homayoon Farzadegan, Calliope Holingue, Craig J Newschaffer, Ann M Reynolds, M Daniele Fallin, Christine Ladd-Acosta
Children with autism spectrum disorder (ASD) have a greater prevalence of gastrointestinal (GI) symptoms than children without ASD. We tested whether polygenic scores for each of three GI disorders (ulcerative colitis, inflammatory bowel disease, and Crohn's disease) were related to GI symptoms in children with and without ASD. Using genotyping data (564 ASD cases and 715 controls) and external genome-wide association study summary statistics, we computed GI polygenic scores for ulcerative colitis (UC-PGS), inflammatory bowel disease (IDB-PGS), and Crohn's disease (CD-PGS)...
July 17, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#31
JOURNAL ARTICLE
Kenneth S Kendler, Astrid Klee
In the 19th century, psychiatric genetic studies typically utilized a generic category of "insanity." This began to change after 1899, with the publication of Kraepelin's 6th edition containing, among other disorders, his mature concept of dementia praecox (DP). We here review an article published by Ryssia Wolfsohn in 1907 from her dissertation at the University of Zurich entitled "Die Heredität bei Dementia praecox" (The Heredity of Dementia Praecox). This work, performed under the supervision of E. Bleuler, was to our knowledge the first formal genetic study of the then new diagnosis of DP...
July 13, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#32
JOURNAL ARTICLE
Arden Moscati, Annika B Faucon, Cayetana Arnaiz-Yépez, Sara Larsson Lönn, Jan Sundquist, Kristina Sundquist, Gillian M Belbin, Girish Nadkarni, Judy H Cho, Ruth J F Loos, Lea K Davis, Kenneth S Kendler
Fibromyalgia is a complex disease of unclear etiology that is complicated by difficulties in diagnosis, treatment, and clinical heterogeneity. To clarify this etiology, healthcare-based data are leveraged to assess the influences on fibromyalgia in several domains. Prevalence is less than 1% of females in our population register data, and about 1/10th that in males. Fibromyalgia often presents with co-occurring conditions including back pain, rheumatoid arthritis, and anxiety. More comorbidities are identified with hospital-associated biobank data, falling into three broad categories of pain-related, autoimmune, and psychiatric disorders...
June 19, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#33
JOURNAL ARTICLE
Yingjie Shi, Emma Sprooten, Peter Mulders, Janna Vrijsen, Janita Bralten, Ditte Demontis, Anders D Børglum, G Bragi Walters, Kari Stefansson, Philip van Eijndhoven, Indira Tendolkar, Barbara Franke, Nina Roth Mota
The dense co-occurrence of psychiatric disorders questions the categorical classification tradition and motivates efforts to establish dimensional constructs with neurobiological foundations that transcend diagnostic boundaries. In this study, we examined the genetic liability for eight major psychiatric disorder phenotypes under both a disorder-specific and a transdiagnostic framework. The study sample (n = 513) was deeply phenotyped, consisting of 452 patients from tertiary care with mood disorders, anxiety disorders (ANX), attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders, and/or substance use disorders (SUD) and 61 unaffected comparison individuals...
June 19, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#34
REVIEW
Kenneth S Kendler, Astrid Klee
In the first two decades of the 20th century, a new approach to psychiatric genetics research emerged in Germany from three roots: (i) the wide-spread acceptance of Kraepelin's diagnostic system, (ii) increasing interest in pedigree research, and (iii) excitement about Mendelian models. We review two relevant papers, reporting analyses of, respectively, 62 and 81 pedigrees: S. Schuppius in 1912 and E. Wittermann in 1913. While most prior asylum based studies only reported a patient's "hereditary burden," they examined diagnoses of individual relatives at a particular place in a pedigree...
June 8, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#35
JOURNAL ARTICLE
Jessica Mundy, Christopher Hübel, Brett N Adey, Helena L Davies, Molly R Davies, Jonathan R I Coleman, Matthew Hotopf, Gursharan Kalsi, Sang Hyuck Lee, Andrew M McIntosh, Henry C Rogers, Thalia C Eley, Robin M Murray, Evangelos Vassos, Gerome Breen
The Mood Disorder Questionnaire (MDQ) is a common screening tool for bipolar disorder that assesses manic symptoms. Its utility for genetic studies of mania or bipolar traits has not been fully examined. We psychometrically compared the MDQ to self-reported bipolar disorder in participants from the United Kingdom National Institute of Health and Care Research Mental Health BioResource. We conducted genome-wide association studies of manic symptom quantitative traits and symptom subgroups, derived from the MDQ items (N = 11,568-19,859)...
May 13, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#36
JOURNAL ARTICLE
Tiahna Moorthy, Huyen Nguyen, Ying Chen, Jehannine Austin, Jordan W Smoller, Laura Hercher, Maya Sabatello
Polygenic risk scores (PRS) are promising for identifying common variant-related inheritance for psychiatric conditions but their integration into clinical practice depends on their clinical utility and psychiatrists' understanding of PRS. Our online survey explored these issues with 276 professionals working in psychiatric genetics (RR: 19%). Overall, participants demonstrated knowledge of how to interpret PRS results. Their performance on knowledge-based questions was positively correlated with participants' self-reported familiarity with PRS (r = 0...
May 9, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#37
REVIEW
Kenneth S Kendler, Astrid Klee, Eric J Engstrom
Irma Weinberg, a German-Jewish Neuropsychiatrist/Physician, authored the fourth report from the German Research Institute for Psychiatry in Munich examining the risk for dementia praecox (DP) in particular relatives of DP probands, here first-cousins. She examined 977 cousins of 54 DP probands and found a best-estimate risk of 1.4%. She conducted within-study analyses, showing a much higher risk for DP in the siblings than cousins of DP probands. She studied DP-related personalities showing a familial link between these conditions and risk for DP...
April 17, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#38
JOURNAL ARTICLE
Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhongming Zhao
Investigating functional, temporal, and cell-type expression features of mutations is important for understanding a complex disease. Here, we collected and analyzed common variants and de novo mutations (DNMs) in schizophrenia (SCZ). We collected 2,636 missense and loss-of-function (LoF) DNMs in 2,263 genes across 3,477 SCZ patients (SCZ-DNMs). We curated three gene lists: (a) SCZ-neuroGenes (159 genes), which are intolerant to LoF and missense DNMs and are neurologically important, (b) SCZ-moduleGenes (52 genes), which were derived from network analyses of SCZ-DNMs, and (c) SCZ-commonGenes (120 genes) from a recent GWAS as reference...
April 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#39
JOURNAL ARTICLE
Alfredo B Cuellar-Barboza, Miguel L Prieto, Brandon J Coombes, Manuel Gardea-Resendez, Nicolás Núñez, Stacey J Winham, Francisco Romo-Nava, Sarai González, Susan L McElroy, Mark A Frye, Joanna M Biernacka
To date, bipolar disorder (BD) genetic studies and polygenic risk scores (PRSs) for BD are based primarily on populations of European descent (EUR) and lack representation from other ancestries including Latin American (LAT). Here, we describe a new LAT cohort from the Mayo Clinic Bipolar Biobank (MCBB), a multisite collaboration with recruitment sites in the United States (EUR; 1,443 cases and 777 controls) and Mexico and Chile (LAT; 211 cases and 161 controls) and use the sample to explore the performance of a BD-PRS in a LAT population...
March 15, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
#40
JOURNAL ARTICLE
Morgan N Driver, Sally I-Chun Kuo, Jacqueline S Dron, Jehannine Austin, Danielle M Dick
For the return of polygenic risk scores to become an acceptable clinical practice in psychiatry, receipt of polygenic risk scores must be associated with minimal harm and changes in behavior that decrease one's risk for developing a psychiatric outcome. Data from a randomized controlled trial was used to assess the impact of different levels of hypothetical polygenic risk scores for alcohol use disorder on psychological distress, risk perception, and intentions to change drinking behaviors. The analytic sample consisted of 325 participants recruited from an urban, public university...
March 1, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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