Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Articles by Peter A Holmans
Rare genetic variants influence participation in cognitive components of the UK Biobank
Abstract Population-level biobanks are transforming health and genomic research however they are all subject to recruitment and participation biases, the impacts of which are not fully understood. The UK Biobank (UKBB) is one such cohort; it is widely used for health-related research, but its participants are not representative of the UK general population. In addition, those who complete optional components of UKBB differ from those who do not in terms of health-related exposures and outcomes.
A novel method to disentangle tightly linked risk and resilience genes for brain disorders: application to Alzheimer’s disease
Abstract Genetic risk factors for neuropsychiatric disorders are well documented. However, some individuals with high genetic risk remain unaffected, and the mechanisms underlying such resilience remain poorly understood. The presence of protective resilience factors that mitigate risk could help explain the disconnect between predicted risk and reality, particularly when genetic contributions are substantial but incompletely understood.
Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores
|
Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores Supplement 1. eFigure 1. Associated Odds Ratios and Confidence Intervals Resulted From the Sensitivity Analysis for Grouping rCNVs Across 6 Different Approaches eFigure 2. Comparison of rCNV Group-Associated Absolute Risk Between SSD and SSD Without Comorbid Childhood-Onset Disorders in iPSYCH2015 eFigure 3.
By Morteza Vaez, Simone Montalbano, Ryan K. Waples, Morten Krebs, Kajsa-Lotta Georgii Hellberg, Jesper R. Gådin, Daniel Stow, Peter A Holmans, Anders D. Børglum, Dorte Helenius, Thomas Werge, Andrew J. Schork, Andrés Ingason, LINC Consortium, George G. Kirov, Michael Owen, James Walters, Jane Lynch, David van Heel, Sarah Finer, Nicholas J Timpson, John MacLeod Verified, Julie Clayton, Ruby Tsang, Jane Sprackman, Shahid Khan, Inês Barroso, Rupert A Payne, Mark A. Mon-Williams, Megan Wood, Nabila Ali, Hilary C. Martin, Lam O. Huang, Marianne van den Bree, Ioanna K. Katzourou, Golam M. Khandakar
|
JAMA Psychiatry
Verified
Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank
Abstract Cognitive impairments in schizophrenia are associated with poor outcomes and are largely unimproved by current medications. It remains uncertain to what extent cognitive impairments arise from shared aetiology and biology with schizophrenia, or are a consequence of having the condition.
Immunometabolic blood biomarkers of developmental trajectories of depressive symptoms: findings from the ALSPAC birth cohort - Molecular Psychiatry
Abstract Depression is associated with immunological and metabolic alterations, but immunometabolic characteristics of developmental trajectories of depressive symptoms remain unclear. Studies of longitudinal trends of depressive symptoms in young people could provide insight into aetiological mechanisms and heterogeneity behind depression, and origins of possible common cardiometabolic comorbidities for depression.
Whole-exome sequencing analysis identifies risk genes for schizophrenia - Nature Communications
Abstract Rare coding variants across many genes contribute to schizophrenia liability, but they have only been implicated in 12 genes at exome-wide levels of significance. To increase power for gene discovery, we analyse exome-sequencing data for rare coding variants in a new sample of 4650 schizophrenia cases and 5719 controls, and combine these with published sequencing data for a total of 28,898 cases, 103,041 controls and 3444 proband-parent trios.
Machine learning in Alzheimer’s disease genetics - Nature Communications
|
Abstract Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the largest European consortium on Alzheimer’s disease (AD) to investigate the effectiveness of various ML algorithms in replicating known findings, discovering novel loci, and predicting individuals at risk.
By Matthew Bracher-Smith, Céline Bellenguez, Peter A Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Victoria Alvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Jakub Hort, Jesper Qvist Thomassen, Henne Holstege, Philip Scheltens, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Gaël Nicolas, Carole Dufouil, Florence Pasquier, Stéphanie Debette, Edna Grünblatt, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Michael Wagner, Benedetta Nacmias, Fabrizio Piras, Giacomina Rossi, Patrick Kehoe, Kristel Sleegers, Martin Ingelsson, Rebecca Sims, Ole A. Andreassen, Agustín Ruiz, Alfredo M. Ramirez, Alfredo Ramírez, Ruth Frikke-Schmidt, Najaf Amin, Gennady V Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Tsolaki Magda
|
Nature
Verified
Machine learning in Alzheimer’s disease genetics
|
Scientists just discovered a secret code hidden in your DNA What scientists once dismissed as “junk” DNA may actually be some of the most powerful code in our genome. A new international study reveals that …
By Matthew Bracher-Smith, Federico Melograna, Brittany S. Ulm, Céline Bellenguez, Benjamin Grenier-Boley, Diane Duroux, Peter A Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Raquel Sánchez-Valle, Victoria Alvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Alexandre de Mendonça, Latchezar Traykov, Jakub Hort, Martin Vyhnálek, Nicolai Sandau, Jesper Qvist Thomassen, Henne Holstege, Inez H.G.B. Ramakers, Frans R Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Jean-Francois Deleuze, Gaël Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Michael Wagner, Benedetta Nacmias, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Fabrizio Piras, Giacomina Rossi, Frank Jessen, Patrick Kehoe, Tsolaki Magda, Pascual Sanchez-Juan, Kristel Sleegers, Martin Ingelsson, Mikko Hiltunen, Rebecca Sims, Ole A. Andreassen, Agustín Ruiz, Alfredo M. Ramirez, Alfredo Ramírez, Ruth Frikke-Schmidt, Najaf Amin, Gennady V Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Valentina Escott-Price, Alejo J. Nevado, Atahualpa Castillo, Shima Mehrabian, John van Swieten, Marco Spallazzi, Carlo Masullo
|
Flipboard
F23 Covariate Balancing & Weighting Web App (COBWEB)
Publisher: BMJ Journals Availability: Non-RAND Year: 2022 Pages: 1 Document Number: EP-70892 This publication is part of the RAND external publication series. Many RAND studies are published in peer-reviewed scholarly journals, as chapters in commercial books, or as documents published by other organizations. RAND is a nonprofit institution that helps improve policy and decisionmaking through research and analysis.
Analysis of exome sequencing data implicates rare coding variants in STAG1 and ZNF136 in schizophrenia
ER, JTRW, MCO and MJO reported receiving grants from Akrivia Health outside the submitted work. JTRW, MJO and MCO reported receiving grants from Takeda Pharmaceutical Company Ltd outside the submitted work. Takeda and Akrivia played no part in the conception, design, implementation, or interpretation of this study. This work was supported by a UKRI Future Leaders Fellowship Grant to E.R (MR/T018712/1), a MRC Program Grant no.
Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs) - Translational Psychiatry
Abstract A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high neurodevelopmental and psychiatric risk (ND-CNVs). Irritability is frequently observed in childhood neurodevelopmental conditions, yet its aetiology is largely unknown.
Rare coding variants in schizophrenia-associated genes affect generalised cognition in the UK Biobank
ER, JTRW, MCO and MJO reported receiving grants from Akrivia Health outside the submitted work. JTRW, MJO and MCO reported receiving grants from Takeda Pharmaceutical Company Ltd outside the submitted work. Takeda and Akrivia played no part in the conception, design, implementation, or interpretation of this study. This work was supported by a Wellcome Trust Integrative Neuroscience PhD Studentship to EF (108891/B/15/Z /WT), and a UKRI Future Leaders Fellowship Grant to ER (MR/T018712/1).
Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia - Molecular Psychiatry
In an evaluation of the contribution from different classes of common and rare genetic variants, we found significant evidence for association between school performance in people with schizophrenia and PRS for EA and intelligence and damaging de novo variants in DD genes. Our results are broadly in line with previous findings that were derived from within-case, or population based, studies of cognitive function in schizophrenia [17, 19, 23].
Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores - Nature Communications
|
Author notes These authors contributed equally: Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen. These authors jointly supervised this work: Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz.
By Itziar de Rojas, Najada Stringa, Anna Zettergren, Rebecca Sims, Céline Bellenguez, Miguel Calero, Monica Diez-Fairen, Carmen Lage, Pablo García-González, Alba Pérez-Cordón, Alberto Benussi, Alessio Squassina, Ana Pastor Verified, Arvid Rongve, Benedetta Nacmias, Børge G Nordestgaard, Chandra A Reynolds, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Dag Aarsland, Daniel Alcolea, Daniela Galimberti, David Wallon, Edna Grünblatt, Fahri Küçükali, Florence Pasquier, Gaël Nicolas, Geir Selbæk, Henrik Zetterberg, Hilkka Soininen, Ignacio J. Álvarez, Ingvild Saltvedt, Jean-Sébastien Vidal, Johannes Kornhuber, Jonathan Haines, Juan Pineda, Kevin Morgan, Kristel Sleegers, Lindsay A Farrer, M. Arfan Ikram, Magda Tsolaki, Margaret A. Pericak-Vance, Martin Dichgans, Michael Ewers, Michael Wagner, Olivier Quenez, Paola Bossù, Peter A Holmans, Qiong Yang, Sara Hägg, Srdjan Djurovic, Valentina Escott-Price, Vilmantas Giedraitis, Xueqiu Jian, Patrick Kehoe, Pascual Sanchez-Juan, Maria Bullido, Alberto Lleó, Miguel Medina, Henne Holstege, Maria Saez, Philippe Amouyel, Julie Williams, Sudha Seshadri, Karen A. Mather, Kaj Blennow, Ole A. Andreassen, Mercè Boada, Alfredo Ramirez, Alfredo Ramírez, Jean-Charles Lambert, Rick M. Tankard, Laura Cervera-Carles, Manuel Menéndez-González, Angel Martín Montes, Annakaisa Haapasalo, Eloy Rodriguez-Rodriguez, Jasper Van Dongen, Jonathan Vogelgsang, Valentina Bessi, Jordi Pérez-Tur, Jose María García-Alberca, Luis M. Real
|
Nature
Verified
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset - Nature Neuroscience
Abstract The age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We discovered damaging coding variants in candidate modifier genes identified in previous genome-wide association studies associated with altered HD onset or severity.
Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study - The Lancet Psychiatry
Summary Background Several copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to characterise the effect of ND-CNVs on childhood development and investigate whether different ND-CNVs lead to distinct and specific patterns of cognitive and behavioural outcomes.
Novel Insight into the Aetiology of Autism Spectrum Disorder Gained by Integrating Expression Data with Genome-wide Association Statistics
Novel Insight into the Aetiology of Autism Spectrum Disorder Gained by Integrating Expression Data with Genome-wide Association Statistics Oliver Pain, Andrew J Pocklington, Peter A Holmans, Nicholas J Bray, Heath E O'Brien, Lynsey S Hall, Antonio F Pardiñas, Michael C O'Donovan, Michael J Owen, Richard Anney bioRxiv 480624; doi: https://doi.org/10.1101/480624
Show More
loading
Actions
Is this you?
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Get in touch with Peter A
Contact Peter A, search articles and posts on X, monitor coverage, and track replies from one place.
Learn more about Muck Rack