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1. Genomic Insights and the Irish Travellers: An Interview with Professor Gianpiero Cavalleri

Author

Cavalleri, Gianpiero L., McDonald, Henry, and Murphy, Conor

Subjects
Arts in general, NX1-820, History of scholarship and learning. The humanities, AZ20-999
Abstract

Gianpiero Cavalleri is Associate Professor of Human Genetics at the Department of Molecular and Cellular Therapeutics at the Royal College of Surgeons in Ireland and is the lead author of a 2017 study into the genetic structure of the Irish Traveller community. The study provided an estimate of when Irish Travellers split from the ‘settled' population in Ireland. This population-based genetic research project involved researchers from the Royal College of Surgeons in Ireland, University College Dublin, the University of Edinburgh and the Hebrew University of Jerusalem and looked into the history and structure of the Traveller population in the context of ‘settled' Irish as well as neighbouring European and Roma Gypsy groups. A full-text version of the study first published in the journal Scientific Reports can be accessed at https://epubs.rcsi.ie/cgi/viewcontent.cgi?referer=https://www.google.ie/&httpsredir=1&article=1100&context=mctart. This interview took place at RCSI on Tuesday 21st November 2017.

Published
2017
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2. Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders

Author

Lawrence, Elijah S, Gu, Wanjun, Bohlender, Ryan J, Anza-Ramirez, Cecilia, Cole, Amy M, Yu, James J, Hu, Hao, Heinrich, Erica C, O’Brien, Katie A, Vasquez, Carlos A, Cowan, Quinn T, Bruck, Patrick T, Mercader, Kysha, Alotaibi, Mona, Long, Tao, Hall, James E, Moya, Esteban A, Bauk, Marco A, Reeves, Jennifer J, Kong, Mitchell C, Salem, Rany M, Vizcardo-Galindo, Gustavo, Macarlupu, Jose-Luis, Figueroa-Mujíca, Rómulo, Bermudez, Daniela, Corante, Noemi, Gaio, Eduardo, Fox, Keolu P, Salomaa, Veikko, Havulinna, Aki S, Murray, Andrew J, Malhotra, Atul, Powel, Frank L, Jain, Mohit, Komor, Alexis C, Cavalleri, Gianpiero L, Huff, Chad D, Villafuerte, Francisco C, and Simonson, Tatum S

Subjects
Biological Sciences, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Humans, Adaptation, Physiological, Altitude, East Asian People, Hematocrit, Hypoxia, Mutation, Missense, South American People
Abstract

Hypoxia-inducible factor pathway genes are linked to adaptation in both human and nonhuman highland species. EPAS1, a notable target of hypoxia adaptation, is associated with relatively lower hemoglobin concentration in Tibetans. We provide evidence for an association between an adaptive EPAS1 variant (rs570553380) and the same phenotype of relatively low hematocrit in Andean highlanders. This Andean-specific missense variant is present at a modest frequency in Andeans and absent in other human populations and vertebrate species except the coelacanth. CRISPR-base-edited human cells with this variant exhibit shifts in hypoxia-regulated gene expression, while metabolomic analyses reveal both genotype and phenotype associations and validation in a lowland population. Although this genocopy of relatively lower hematocrit in Andean highlanders parallels well-replicated findings in Tibetans, it likely involves distinct pathway responses based on a protein-coding versus noncoding variants, respectively. These findings illuminate how unique variants at EPAS1 contribute to the same phenotype in Tibetans and a subset of Andean highlanders despite distinct evolutionary trajectories.

Published
2024

3. Donor genetic burden for cerebrovascular risk and kidney transplant outcome

Author

Collins, Kane E., Gilbert, Edmund, Mauduit, Vincent, Benson, Katherine A., Elhassan, Elhussein A. E., O’Seaghdha, Conall, Hill, Claire, McKnight, Amy Jayne, Maxwell, Alexander P., van der Most, Peter J., de Borst, Martin H., Guan, Weihua, Jacobson, Pamala A., Israni, Ajay K., Keating, Brendan J., Lord, Graham M., Markkinen, Salla, Helanterä, Ilkka, Hyvärinen, Kati, Partanen, Jukka, Madden, Stephen F., Limou, Sophie, Cavalleri, Gianpiero L., and Conlon, Peter J.

Published
2024
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4. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy

Author

Park, Bo-yong, Larivière, Sara, Rodríguez-Cruces, Raul, Royer, Jessica, Tavakol, Shahin, Wang, Yezhou, Caciagli, Lorenzo, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Alvim, Marina KM, Yasuda, Clarissa, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Kreilkamp, Barbara AK, Domin, Martin, von Podewils, Felix, Langner, Soenke, Rummel, Christian, Rebsamen, Michael, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, Bender, Benjamin, O’Brien, Terence J, Law, Meng, Sinclair, Benjamin, Vivash, Lucy, Kwan, Patrick, Desmond, Patricia M, Malpas, Charles B, Lui, Elaine, Alhusaini, Saud, Doherty, Colin P, Cavalleri, Gianpiero L, Delanty, Norman, Kälviäinen, Reetta, Jackson, Graeme D, Kowalczyk, Magdalena, Mascalchi, Mario, Semmelroch, Mira, Thomas, Rhys H, Soltanian-Zadeh, Hamid, Davoodi-Bojd, Esmaeil, Zhang, Junsong, Lenge, Matteo, Guerrini, Renzo, Bartolini, Emanuele, Hamandi, Khalid, Foley, Sonya, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, Abela, Eugenio, Richardson, Mark P, Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Parodi, Costanza, Tortora, Domenico, Hatton, Sean N, Vos, Sjoerd B, Duncan, John S, Galovic, Marian, Whelan, Christopher D, Bargalló, Núria, Pariente, Jose, Conde-Blanco, Estefania, Vaudano, Anna Elisabetta, Tondelli, Manuela, Meletti, Stefano, Kong, Xiang‐Zhen, Francks, Clyde, Fisher, Simon E, Caldairou, Benoit, Ryten, Mina, Labate, Angelo, Sisodiya, Sanjay M, Thompson, Paul M, McDonald, Carrie R, Bernasconi, Andrea, Bernasconi, Neda, and Bernhardt, Boris C

Subjects
Epilepsy, Neurodegenerative, Clinical Research, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Atrophy, Connectome, Epilepsy, Temporal Lobe, Hippocampus, Humans, Magnetic Resonance Imaging, temporal lobe epilepsy, asymmetry, cortical thickness, multi-site, gradients, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Temporal lobe epilepsy, a common drug-resistant epilepsy in adults, is primarily a limbic network disorder associated with predominant unilateral hippocampal pathology. Structural MRI has provided an in vivo window into whole-brain grey matter structural alterations in temporal lobe epilepsy relative to controls, by either mapping (i) atypical inter-hemispheric asymmetry; or (ii) regional atrophy. However, similarities and differences of both atypical asymmetry and regional atrophy measures have not been systematically investigated. Here, we addressed this gap using the multisite ENIGMA-Epilepsy dataset comprising MRI brain morphological measures in 732 temporal lobe epilepsy patients and 1418 healthy controls. We compared spatial distributions of grey matter asymmetry and atrophy in temporal lobe epilepsy, contextualized their topographies relative to spatial gradients in cortical microstructure and functional connectivity calculated using 207 healthy controls obtained from Human Connectome Project and an independent dataset containing 23 temporal lobe epilepsy patients and 53 healthy controls and examined clinical associations using machine learning. We identified a marked divergence in the spatial distribution of atypical inter-hemispheric asymmetry and regional atrophy mapping. The former revealed a temporo-limbic disease signature while the latter showed diffuse and bilateral patterns. Our findings were robust across individual sites and patients. Cortical atrophy was significantly correlated with disease duration and age at seizure onset, while degrees of asymmetry did not show a significant relationship to these clinical variables. Our findings highlight that the mapping of atypical inter-hemispheric asymmetry and regional atrophy tap into two complementary aspects of temporal lobe epilepsy-related pathology, with the former revealing primary substrates in ipsilateral limbic circuits and the latter capturing bilateral disease effects. These findings refine our notion of the neuropathology of temporal lobe epilepsy and may inform future discovery and validation of complementary MRI biomarkers in temporal lobe epilepsy.

Published
2022

5. A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

Author

Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony J., Kmoch, Stanislav, Conlon, Peter J., and Živná, Martina

Published
2024
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6. The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago

Author

Gilbert, Edmund, Zurel, Heather, MacMillan, Margaret E., Demiriz, Sedat, Mirhendi, Sadra, Merrigan, Michael, O’Reilly, Seamus, Molloy, Anne M., Brody, Lawrence C., Bodmer, Walter, Leach, Richard A., Scott, Roderick E. M., Mugford, Gerald, Randhawa, Ranjit, Stephens, J. Claiborne, Symington, Alison L., Cavalleri, Gianpiero L., and Phillips, Michael S.

Published
2023
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8. The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

Author

Sisodiya, Sanjay M, Whelan, Christopher D, Hatton, Sean N, Huynh, Khoa, Altmann, Andre, Ryten, Mina, Vezzani, Annamaria, Caligiuri, Maria Eugenia, Labate, Angelo, Gambardella, Antonio, Ives‐Deliperi, Victoria, Meletti, Stefano, Munsell, Brent C, Bonilha, Leonardo, Tondelli, Manuela, Rebsamen, Michael, Rummel, Christian, Vaudano, Anna Elisabetta, Wiest, Roland, Balachandra, Akshara R, Bargalló, Núria, Bartolini, Emanuele, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Caldairou, Benoit, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Desmond, Patricia M, Domin, Martin, Duncan, John S, Focke, Niels K, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Jahanshad, Neda, Kälviäinen, Reetta, Keller, Simon S, Kochunov, Peter, Kowalczyk, Magdalena A, Kreilkamp, Barbara AK, Kwan, Patrick, Lariviere, Sara, Lenge, Matteo, Lopez, Seymour M, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita‐Sherman, Marcia E, Pardoe, Heath R, Pariente, Jose C, Raviteja, Kotikalapudi, Rocha, Cristiane S, Rodríguez‐Cruces, Raúl, Seeck, Margitta, Semmelroch, Mira KHG, Sinclair, Benjamin, Soltanian‐Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Thomopoulos, Sophia I, Velakoulis, Dennis, Vivash, Lucy, Weber, Bernd, Yasuda, Clarissa Lin, Zhang, Junsong, Thompson, Paul M, McDonald, Carrie R, Abela, Eugenio, Absil, Julie, Adams, Sophia, Alhusaini, Saud, Alvim, Marina, Balestrini, Simona, Bender, Benjamin, Bergo, Felipe, Bernardes, Tauana, Calvo, Anna, Carreno, Mar, Cherubini, Andrea, David, Philippe, Davoodi‐Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin, França, Wendy Caroline, Franceschet, Leticia, Hibar, Derrek P, Ishikawa, Akari, Kaestner, Erik, Langner, Soenke, Liu, Min, Mirandola, Laura, Naylor, Jillian, and Nazem‐Zadeh, Mohammad‐reza

Subjects
Brain Disorders, Biomedical Imaging, Neurosciences, Epilepsy, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, covariance, deep learning, DTI, event-based modeling, gene expression, genetics, imaging, MRI, quantitative, rsfMRI, ENIGMA Consortium Epilepsy Working Group, Cognitive Sciences, Experimental Psychology
Abstract

Epilepsy is a common and serious neurological disorder, with many different constituent conditions characterized by their electro clinical, imaging, and genetic features. MRI has been fundamental in advancing our understanding of brain processes in the epilepsies. Smaller-scale studies have identified many interesting imaging phenomena, with implications both for understanding pathophysiology and improving clinical care. Through the infrastructure and concepts now well-established by the ENIGMA Consortium, ENIGMA-Epilepsy was established to strengthen epilepsy neuroscience by greatly increasing sample sizes, leveraging ideas and methods established in other ENIGMA projects, and generating a body of collaborating scientists and clinicians to drive forward robust research. Here we review published, current, and future projects, that include structural MRI, diffusion tensor imaging (DTI), and resting state functional MRI (rsfMRI), and that employ advanced methods including structural covariance, and event-based modeling analysis. We explore age of onset- and duration-related features, as well as phenomena-specific work focusing on particular epilepsy syndromes or phenotypes, multimodal analyses focused on understanding the biology of disease progression, and deep learning approaches. We encourage groups who may be interested in participating to make contact to further grow and develop ENIGMA-Epilepsy.

Published
2022

9. Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

Author

Larivière, Sara, Royer, Jessica, Rodríguez-Cruces, Raúl, Paquola, Casey, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Yasuda, Clarissa L, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Domin, Martin, von Podewills, Felix, Langner, Soenke, Rummel, Christian, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, O’Brien, Terence J, Sinclair, Benjamin, Vivash, Lucy, Desmond, Patricia M, Lui, Elaine, Vaudano, Anna Elisabetta, Meletti, Stefano, Tondelli, Manuela, Alhusaini, Saud, Doherty, Colin P, Cavalleri, Gianpiero L, Delanty, Norman, Kälviäinen, Reetta, Jackson, Graeme D, Kowalczyk, Magdalena, Mascalchi, Mario, Semmelroch, Mira, Thomas, Rhys H, Soltanian-Zadeh, Hamid, Davoodi-Bojd, Esmaeil, Zhang, Junsong, Winston, Gavin P, Griffin, Aoife, Singh, Aditi, Tiwari, Vijay K, Kreilkamp, Barbara AK, Lenge, Matteo, Guerrini, Renzo, Hamandi, Khalid, Foley, Sonya, Rüber, Theodor, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, Abela, Eugenio, Richardson, Mark P, Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Kaestner, Erik, Hatton, Sean N, Vos, Sjoerd B, Caciagli, Lorenzo, Duncan, John S, Whelan, Christopher D, Thompson, Paul M, Sisodiya, Sanjay M, Bernasconi, Andrea, Labate, Angelo, McDonald, Carrie R, Bernasconi, Neda, and Bernhardt, Boris C

Subjects
Neurodegenerative, Genetics, Neurosciences, Brain Disorders, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Connectome, Epilepsy, Generalized, Epilepsy, Temporal Lobe, Gene Expression, Humans, Immunoglobulin E, Magnetic Resonance Imaging, Nerve Net
Abstract

Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations, but associations between neurobiological mechanisms and macroscale connectomics remain unclear. This multisite ENIGMA-Epilepsy study examined whole-brain structural covariance networks in patients with epilepsy and related findings to postmortem epilepsy risk gene expression patterns. Brain network analysis included 578 adults with temporal lobe epilepsy (TLE), 288 adults with idiopathic generalized epilepsy (IGE), and 1328 healthy controls from 18 centres worldwide. Graph theoretical analysis of structural covariance networks revealed increased clustering and path length in orbitofrontal and temporal regions in TLE, suggesting a shift towards network regularization. Conversely, people with IGE showed decreased clustering and path length in fronto-temporo-parietal cortices, indicating a random network configuration. Syndrome-specific topological alterations reflected expression patterns of risk genes for hippocampal sclerosis in TLE and for generalized epilepsy in IGE. These imaging-transcriptomic signatures could potentially guide diagnosis or tailor therapeutic approaches to specific epilepsy syndromes.

Published
2022

10. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Author

Stevelink, Remi, Luykx, Jurjen J, Lin, Bochao D, Leu, Costin, Lal, Dennis, Smith, Alexander W, Schijven, Dick, Carpay, Johannes A, Rademaker, Koen, Baldez, Roiza A Rodrigues, Devinsky, Orrin, Braun, Kees PJ, Jansen, Floor E, Smit, Dirk JA, Koeleman, Bobby PC, Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit‐Jan, De Jonghe, Peter, de Kovel, Carolien GF, Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B, Gui, Hongsheng, Guo, Youling, Haas, Kevin F, Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R, Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Trenite, Dorothee Kasteleijn‐Nolst, Kirsch, Heidi E, Knowlton, Robert C, Krause, Roland, Krenn, Martin, Kunz, Wolfram S, Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D, Lopes‐Cendes, Iscia, Lowenstein, Daniel H, Malovini, Alberto, Marson, Anthony G, Mayer, Thomas, McCormack, Mark, and Mills, James L

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Human Genome, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Algorithms, Beta Rhythm, Cohort Studies, Databases, Factual, Electroencephalography, Epilepsy, Generalized, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mendelian Randomization Analysis, Risk Assessment, Theta Rhythm, beta power, EEG, generalized epilepsy, GGE, oscillations, PRS, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveParoxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations.MethodsConfounding factors, including the heterogeneous etiology of epilepsies and medication effects, hamper studies on background brain activity in people with epilepsy. To overcome this limitation, we compared genetic data from a genome-wide association study (GWAS) on epilepsy (n = 12 803 people with epilepsy and 24 218 controls) with that from a GWAS on background EEG (n = 8425 subjects without epilepsy), in which background EEG oscillation power was quantified in four different frequency bands: alpha, beta, delta, and theta. We replicated our findings in an independent epilepsy replication dataset (n = 4851 people with epilepsy and 20 428 controls). To assess the genetic overlap between these phenotypes, we performed genetic correlation analyses using linkage disequilibrium score regression, polygenic risk scores, and Mendelian randomization analyses.ResultsOur analyses show strong genetic correlations of genetic generalized epilepsy (GGE) with background EEG oscillations, primarily in the beta frequency band. Furthermore, we show that subjects with higher beta and theta polygenic risk scores have a significantly higher risk of having generalized epilepsy. Mendelian randomization analyses suggest a causal effect of GGE genetic liability on beta oscillations.SignificanceOur results point to shared biological mechanisms underlying background EEG oscillations and the susceptibility for GGE, opening avenues to investigate the clinical utility of background EEG oscillations in the diagnostic workup of epilepsy.

Published
2021

11. Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

Author

Larivière, Sara, Rodríguez-Cruces, Raúl, Royer, Jessica, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Yasuda, Clarissa, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Domin, Martin, von Podewills, Felix, Langner, Soenke, Rummel, Christian, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, O’Brien, Terence J, Sinclair, Benjamin, Vivash, Lucy, Desmond, Patricia M, Alhusaini, Saud, Doherty, Colin P, Cavalleri, Gianpiero L, Delanty, Norman, Kälviäinen, Reetta, Jackson, Graeme D, Kowalczyk, Magdalena, Mascalchi, Mario, Semmelroch, Mira, Thomas, Rhys H, Soltanian-Zadeh, Hamid, Davoodi-Bojd, Esmaeil, Zhang, Junsong, Lenge, Matteo, Guerrini, Renzo, Bartolini, Emanuele, Hamandi, Khalid, Foley, Sonya, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, Abela, Eugenio, Richardson, Mark P, Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Hatton, Sean N, Vos, Sjoerd B, Duncan, John S, Whelan, Christopher D, Thompson, Paul M, Sisodiya, Sanjay M, Bernasconi, Andrea, Labate, Angelo, McDonald, Carrie R, Bernasconi, Neda, and Bernhardt, Boris C

Subjects
Mental Health, Brain Disorders, Epilepsy, Clinical Research, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological
Abstract

Epilepsy is increasingly conceptualized as a network disorder. In this cross-sectional mega-analysis, we integrated neuroimaging and connectome analysis to identify network associations with atrophy patterns in 1021 adults with epilepsy compared to 1564 healthy controls from 19 international sites. In temporal lobe epilepsy, areas of atrophy colocalized with highly interconnected cortical hub regions, whereas idiopathic generalized epilepsy showed preferential subcortical hub involvement. These morphological abnormalities were anchored to the connectivity profiles of distinct disease epicenters, pointing to temporo-limbic cortices in temporal lobe epilepsy and fronto-central cortices in idiopathic generalized epilepsy. Negative effects of age on atrophy further revealed a strong influence of connectome architecture in temporal lobe, but not idiopathic generalized, epilepsy. Our findings were reproduced across individual sites and single patients and were robust across different analytical methods. Through worldwide collaboration in ENIGMA-Epilepsy, we provided deeper insights into the macroscale features that shape the pathophysiology of common epilepsies.

Published
2020

12. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

Author

Hatton, Sean N, Huynh, Khoa H, Bonilha, Leonardo, Abela, Eugenio, Alhusaini, Saud, Altmann, Andre, Alvim, Marina KM, Balachandra, Akshara R, Bartolini, Emanuele, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris, Bargallo, Núria, Caldairou, Benoit, Caligiuri, Maria E, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Davoodi-bojd, Esmaeil, Desmond, Patricia M, Devinsky, Orrin, Doherty, Colin P, Domin, Martin, Duncan, John S, Focke, Niels K, Foley, Sonya F, Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ishikawa, Akari, Keller, Simon S, Kochunov, Peter V, Kotikalapudi, Raviteja, Kreilkamp, Barbara AK, Kwan, Patrick, Labate, Angelo, Langner, Soenke, Lenge, Matteo, Liu, Min, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita-Sherman, Marcia E, O’Brien, Terence J, Pardoe, Heath R, Pariente, José C, Ribeiro, Letícia F, Richardson, Mark P, Rocha, Cristiane S, Rodríguez-Cruces, Raúl, Rosenow, Felix, Severino, Mariasavina, Sinclair, Benjamin, Soltanian-Zadeh, Hamid, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Tortora, Domenico, Velakoulis, Dennis, Vezzani, Annamaria, Vivash, Lucy, von Podewils, Felix, Vos, Sjoerd B, Weber, Bernd, Winston, Gavin P, Yasuda, Clarissa L, Zhu, Alyssa H, Thompson, Paul M, Whelan, Christopher D, Jahanshad, Neda, Sisodiya, Sanjay M, and McDonald, Carrie R

Subjects
Genetics, Neurodegenerative, Epilepsy, Clinical Research, Brain Disorders, Neurosciences, Biomedical Imaging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Brain, Diffusion Magnetic Resonance Imaging, Epileptic Syndromes, Female, Humans, Image Interpretation, Computer-Assisted, Male, Middle Aged, White Matter, epilepsy, diffusion tensor imaging, multisite analysis, white matter, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analysed from 1069 healthy controls and 1249 patients: temporal lobe epilepsy with hippocampal sclerosis (n = 599), temporal lobe epilepsy with normal MRI (n = 275), genetic generalized epilepsy (n = 182) and non-lesional extratemporal epilepsy (n = 193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fibre tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at P

Published
2020

13. Polygenic burden in focal and generalized epilepsies

Author

Leu, Costin, Stevelink, Remi, Smith, Alexander W, Goleva, Slavina B, Kanai, Masahiro, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Koeleman, Bobby PC, Lerche, Holger, Jehi, Lara, Davis, Lea K, Najm, Imad M, Palotie, Aarno, Daly, Mark J, Busch, Robyn M, Consortium, Epi25, and Lal, Dennis

Subjects
Biomedical and Clinical Sciences, Clinical Research, Neurosciences, Brain Disorders, Neurodegenerative, Epilepsy, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Cohort Studies, Cost of Illness, Databases, Factual, Epilepsies, Partial, Epilepsy, Generalized, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide, White People, Epi25 Consortium, common variant risk, epilepsy, genetic generalized epilepsy, genetics, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japanese-ancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10-15; Cleveland: P = 2.85×10-4; Finnish-ancestry Epi25: P = 1.80×10-4) or population controls (Epi25: P = 2.35×10-70; Cleveland: P = 1.43×10-7; Finnish-ancestry Epi25: P = 3.11×10-4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10-4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10-19; Cleveland: P = 1.69×10-6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10-15; Cleveland: P = 1.39×10-2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls-in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment.

Published
2019

14. The genetic history of Scandinavia from the Roman Iron Age to the present

Author

Rodríguez-Varela, Ricardo, Moore, Kristjan H.S., Ebenesersdóttir, S. Sunna, Kilinc, Gulsah Merve, Kjellström, Anna, Papmehl-Dufay, Ludvig, Alfsdotter, Clara, Berglund, Birgitta, Alrawi, Loey, Kashuba, Natalija, Sobrado, Verónica, Lagerholm, Vendela Kempe, Gilbert, Edmund, Cavalleri, Gianpiero L., Hovig, Eivind, Kockum, Ingrid, Olsson, Tomas, Alfredsson, Lars, Hansen, Thomas F., Werge, Thomas, Munters, Arielle R., Bernhardsson, Carolina, Skar, Birgitte, Christophersen, Axel, Turner-Walker, Gordon, Gopalakrishnan, Shyam, Daskalaki, Eva, Omrak, Ayça, Pérez-Ramallo, Patxi, Skoglund, Pontus, Girdland-Flink, Linus, Gunnarsson, Fredrik, Hedenstierna-Jonson, Charlotte, Gilbert, M. Thomas P., Lidén, Kerstin, Jakobsson, Mattias, Einarsson, Lars, Victor, Helena, Krzewińska, Maja, Zachrisson, Torun, Storå, Jan, Stefánsson, Kári, Helgason, Agnar, and Götherström, Anders

Published
2023
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16. The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

Author

Elhassan, Elhussein A. E., Murray, Susan L., Connaughton, Dervla M., Kennedy, Claire, Cormican, Sarah, Cowhig, Cliona, Stapleton, Caragh, Little, Mark A., Kidd, Kendrah, Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav, Fennelly, Neil K., Doyle, Brendan, Dorman, Anthony, Griffin, Matthew D., Casserly, Liam, Harris, Peter C., Hildebrandt, Friedhelm, Cavalleri, Gianpiero L., Benson, Katherine A., and Conlon, Peter J.

Published
2022
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17. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Collaborative, Epi25, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther MC, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, and Schreiber, Herbert

Subjects
Clinical Research, Human Genome, Neurosciences, Epilepsy, Biotechnology, Genetics, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, DNA Mutational Analysis, Exome, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Exome Sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.

Published
2019

18. Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation.

Author

Finnegan, Rebecca, O'Regan, Mary, White, Máire, Cavalleri, Gianpiero L., Delanty, Norman, Benson, Katherine A., and Greally, Marie T.

Subjects
BRAIN abnormalities, CONGENITAL disorders, INFANTILE spasms, MOVEMENT disorders, DISEASE relapse
Abstract

Background: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG‐1 syndromes, most of which are inherited as autosomal recessive traits, although X‐linked inheritance has also been reported. Pathogenic variants in the asparagine‐linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36). The NM_001099922.3:c.320A>G; p.(Asn107Ser) variant is the most frequently described pathogenic variant in ALG13, with 59 females and 2 males with this variant reported to date. Methods: We report on a male with a de novo, hemizygous variant in ALG13: c.320A>G; p.(Asn107Ser), whose phenotype resembles that of two previously reported males with the same variant. Results: All three males have a de novo mutation, infantile spasms, DEE, drug‐resistant epilepsy, intellectual disability, dysmorphic findings, recurrent infections, skeletal anomalies, brain abnormalities and a movement disorder: a phenotype not consistently reported in males with other pathogenic variants in ALG13. Conclusion: The similarity of phenotype in the three males with the c.320A>G variant in ALG13, suggests a possible genotype–phenotype correlation. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Distinct HLA associations of LGI1 and CASPR2-antibody diseases

Author

Binks, Sophie, Varley, James, Lee, Wanseon, Makuch, Mateusz, Elliott, Katherine, Gelfand, Jeffrey M, Jacob, Saiju, Leite, M Isabel, Maddison, Paul, Chen, Mian, Geschwind, Michael D, Grant, Eleanor, Sen, Arjune, Waters, Patrick, McCormack, Mark, Cavalleri, Gianpiero L, Barnardo, Martin, Knight, Julian C, and Irani, Sarosh R

Subjects
Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Alleles, Autoantibodies, Epitopes, Female, Gene Frequency, Genetic Linkage, HLA Antigens, HLA-DRB1 Chains, Haplotypes, Humans, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins, Middle Aged, Nerve Tissue Proteins, Potassium Channels, Voltage-Gated, Proteins, White People, human leucocyte antigen, leucine-rich glioma-inactivated 1, contactin-associated protein 2, voltage-gated potassium channel, major histocompatibility complex, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The recent biochemical distinction between antibodies against leucine-rich, glioma-inactivated-1 (LGI1), contactin-associated protein-2 (CASPR2) and intracellular epitopes of voltage-gated potassium-channels (VGKCs) demands aetiological explanations. Given established associations between human leucocyte antigen (HLA) alleles and adverse drug reactions, and our clinical observation of frequent adverse drugs reactions in patients with LGI1 antibodies, we compared HLA alleles between healthy controls (n = 5553) and 111 Caucasian patients with VGKC-complex autoantibodies. In patients with LGI1 antibodies (n = 68), HLA-DRB1*07:01 was strongly represented [odds ratio = 27.6 (95% confidence interval 12.9-72.2), P = 4.1 × 10-26]. In contrast, patients with CASPR2 antibodies (n = 31) showed over-representation of HLA-DRB1*11:01 [odds ratio = 9.4 (95% confidence interval 4.6-19.3), P = 5.7 × 10-6]. Other allelic associations for patients with LGI1 antibodies reflected linkage, and significant haplotypic associations included HLA-DRB1*07:01-DQA1*02:01-DQB1*02:02, by comparison to DRB1*11:01-DQA1*05:01-DQB1*03:01 in CASPR2-antibody patients. Conditional analysis in LGI1-antibody patients resolved further independent class I and II associations. By comparison, patients with both LGI1 and CASPR2 antibodies (n = 3) carried yet another complement of HLA variants, and patients with intracellular VGKC antibodies (n = 9) lacked significant HLA associations. Within LGI1- or CASPR2-antibody patients, HLA associations did not correlate with clinical features. In silico predictions identified unique CASPR2- and LGI1-derived peptides potentially presented by the respective over-represented HLA molecules. These highly significant HLA associations dichotomize the underlying immunology in patients with LGI1 or CASPR2 antibodies, and inform T cell specificities and cellular interactions at disease initiation.10.1093/brain/awy109_video1awy109media15796480660001.

Published
2018

20. Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium

Author

Kong, Xiang-Zhen, Mathias, Samuel R, Guadalupe, Tulio, Glahn, David C, Franke, Barbara, Crivello, Fabrice, Tzourio-Mazoyer, Nathalie, Fisher, Simon E, Thompson, Paul M, Francks, Clyde, Abé, Christoph, Agartz, Ingrid, Akudjedu, Theophilus N, Aleman, Andre, Alhusaini, Saud, Allen, Nicholas B, Ames, David, Andreassen, Ole A, Vasquez, Alejandro Arias, Armstrong, Nicola J, Bergo, Felipe, Bastin, Mark E, Batalla, Albert, Bauer, Jochen, Baune, Bernhard T, Baur-Streubel, Ramona, Biederman, Joseph, Blaine, Sara K, Boedhoe, Premika, Bøen, Erlend, Bose, Anushree, Bralten, Janita, Brandeis, Daniel, Brem, Silvia, Brodaty, Henry, Yüksel, Dilara, Brooks, Samantha J, Buitelaar, Jan, Bürger, Christian, Bülow, Robin, Calhoun, Vince, Calvo, Anna, Canales-Rodríguez, Erick Jorge, Canive, Jose M, Cannon, Dara M, Caparelli, Elisabeth C, Castellanos, Francisco X, Cavalleri, Gianpiero L, Cendes, Fernando, Chaim-Avancini, Tiffany Moukbel, Chantiluke, Kaylita, Chen, Qun-lin, Chen, Xiayu, Cheng, Yuqi, Christakou, Anastasia, Clark, Vincent P, Coghill, David, Connolly, Colm G, Conzelmann, Annette, Córdova-Palomera, Aldo, Cousijn, Janna, Crow, Tim, Cubillo, Ana, Dale, Anders, Dannlowski, Udo, Ambrosino de Bruttopilo, Sara, de Zeeuw, Patrick, Deary, Ian J, Delanty, Norman, Demeter, Damion V, Di Martino, Adriana, Dickie, Erin W, Dietsche, Bruno, Doan, N Trung, Doherty, Colin P, Doyle, Alysa, Durston, Sarah, Earl, Eric, Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Epstein, Jeffery N, Fair, Damien A, Faraone, Stephen V, Fernández, Guillén, Filho, Geraldo Busatto, Förster, Katharina, Fouche, Jean-Paul, Foxe, John J, Frodl, Thomas, Fuentes-Claramonte, Paola, Fullerton, Janice, Garavan, Hugh, Garcia, Danielle do Santos, Gotlib, Ian H, Goudriaan, Anna E, and Grabe, Hans Jörgen

Subjects
Neurosciences, Clinical Research, Brain Disorders, Mental Health, Biomedical Imaging, Underpinning research, 1.1 Normal biological development and functioning, Neurological, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Cerebral Cortex, Child, Child, Preschool, Databases, Factual, Female, Humans, Infant, Male, Middle Aged, Neuroimaging, Young Adult, brain asymmetry, lateralization, cortical thickness, surface area, meta-analysis, ENIGMA Laterality Working Group
Abstract

Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right. Regionally, asymmetries of cortical thickness and/or surface area were found in the inferior frontal gyrus, transverse temporal gyrus, parahippocampal gyrus, and entorhinal cortex. These regions are involved in lateralized functions, including language and visuospatial processing. In addition to population-level asymmetries, variability in brain asymmetry was related to sex, age, and intracranial volume. Interestingly, we did not find significant associations between asymmetries and handedness. Finally, with two independent pedigree datasets (n = 1,443 and 1,113, respectively), we found several asymmetries showing significant, replicable heritability. The structural asymmetries identified and their variabilities and heritability provide a reference resource for future studies on the genetic basis of brain asymmetry and altered laterality in cognitive, neurological, and psychiatric disorders.

Published
2018

21. Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis

Author

Carton, Robert J., primary, Doyle, Michael G., additional, Kearney, Hugh, additional, Steward, Charles A., additional, Lench, Nicholas J., additional, Rogers, Anthony, additional, Heinzen, Erin L., additional, McDonald, Seamus, additional, Fay, Joanna, additional, Lacey, Austin, additional, Beausang, Alan, additional, Cryan, Jane, additional, Brett, Francesca, additional, El‐Naggar, Hany, additional, Widdess‐Walsh, Peter, additional, Costello, Daniel, additional, Kilbride, Ronan, additional, Doherty, Colin P., additional, Sweeney, Kieron J., additional, O'Brien, Donncha F., additional, Henshall, David C., additional, Delanty, Norman, additional, Cavalleri, Gianpiero L., additional, and Benson, Katherine A., additional

Published
2024
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23. A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan

Author

Chen, Judy, primary, Ngo, Alexander, additional, Rodríguez-Cruces, Raúl, additional, Royer, Jessica, additional, Caligiuri, Maria Eugenia, additional, Gambardella, Antonio, additional, Concha, Luis, additional, Keller, Simon S., additional, Cendes, Fernando, additional, Yasuda, Clarissa L., additional, Alvim, Marina K. M., additional, Bonilha, Leonardo, additional, Gleichgerrcht, Ezequiel, additional, Focke, Niels K., additional, Kreilkamp, Barbara, additional, Domin, Martin, additional, von Podewils, Felix, additional, Langner, Soenke, additional, Rummel, Christian, additional, Wiest, Roland, additional, Martin, Pascal, additional, Kotikalapudi, Raviteja, additional, Bender, Benjamin, additional, O’Brien, Terence J., additional, Sinclair, Benjamin, additional, Vivash, Lucy, additional, Kwan, Patrick, additional, Desmond, Patricia M., additional, Lui, Elaine, additional, Duma, Gian Marco, additional, Bonanni, Paolo, additional, Ballerini, Alice, additional, Vaudano, Anna Elisabetta, additional, Meletti, Stefano, additional, Tondelli, Manuela, additional, Alhusaini, Saud, additional, Doherty, Colin P., additional, Cavalleri, Gianpiero L., additional, Delanty, Norman, additional, Kälviäinen, Reetta, additional, Jackson, Graeme D., additional, Kowalczyk, Magdalena, additional, Mascalchi, Mario, additional, Semmelroch, Mira, additional, Thomas, Rhys H., additional, Soltanian-Zadeh, Hamid, additional, Davoodi-Bojd, Esmaeil, additional, Zhang, Junsong, additional, Lenge, Matteo, additional, Guerrini, Renzo, additional, Bartolini, Emanuele, additional, Hamandi, Khalid, additional, Foley, Sonya, additional, Rüber, Theodor, additional, Bauer, Tobias, additional, Weber, Bernd, additional, Caldairou, Benoit, additional, Depondt, Chantal, additional, Absil, Julie, additional, Carr, Sarah J. A., additional, Abela, Eugenio, additional, Richardson, Mark P., additional, Devinsky, Orrin, additional, Pardoe, Heath, additional, Severino, Mariasavina, additional, Striano, Pasquale, additional, Tortora, Domenico, additional, Kaestner, Erik, additional, Hatton, Sean N., additional, Arienzo, Donatello, additional, Vos, Sjoerd B., additional, Ryten, Mina, additional, Taylor, Peter N., additional, Duncan, John S., additional, Whelan, Christopher D., additional, Galovic, Marian, additional, Winston, Gavin P., additional, Thomopoulos, Sophia I., additional, Thompson, Paul M., additional, Sisodiya, Sanjay M., additional, Labate, Angelo, additional, McDonald, Carrie R., additional, Caciagli, Lorenzo, additional, Bernasconi, Neda, additional, Bernasconi, Andrea, additional, Larivière, Sara, additional, Schrader, Dewi, additional, and Bernhardt, Boris C., additional

Published
2024
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24. Functional EPAS1 / HIF2A missense variant is associated with hematocrit in Andean highlanders

Author

Lawrence, Elijah S., primary, Gu, Wanjun, additional, Bohlender, Ryan J., additional, Anza-Ramirez, Cecilia, additional, Cole, Amy M., additional, Yu, James J., additional, Hu, Hao, additional, Heinrich, Erica C., additional, O’Brien, Katie A., additional, Vasquez, Carlos A., additional, Cowan, Quinn T., additional, Bruck, Patrick T., additional, Mercader, Kysha, additional, Alotaibi, Mona, additional, Long, Tao, additional, Hall, James E., additional, Moya, Esteban A., additional, Bauk, Marco A., additional, Reeves, Jennifer J., additional, Kong, Mitchell C., additional, Salem, Rany M., additional, Vizcardo-Galindo, Gustavo, additional, Macarlupu, Jose-Luis, additional, Figueroa-Mujíca, Rómulo, additional, Bermudez, Daniela, additional, Corante, Noemi, additional, Gaio, Eduardo, additional, Fox, Keolu P., additional, Salomaa, Veikko, additional, Havulinna, Aki S., additional, Murray, Andrew J., additional, Malhotra, Atul, additional, Powel, Frank L., additional, Jain, Mohit, additional, Komor, Alexis C., additional, Cavalleri, Gianpiero L., additional, Huff, Chad D., additional, Villafuerte, Francisco C., additional, and Simonson, Tatum S., additional

Published
2024
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25. The genetic landscape of polycystic kidney disease in Ireland

Author

Benson, Katherine A., Murray, Susan L., Senum, Sarah R., Elhassan, Elhussein, Conlon, Eoin T., Kennedy, Claire, Conlon, Shane, Gilbert, Edmund, Connaughton, Dervla, O’Hara, Paul, Khamis, Sarah, Cormican, Sarah, Brody, Lawrence C., Molloy, Anne M., Lynch, Sally Ann, Casserly, Liam, Griffin, Matthew D., Carton, Robert, Yachnin, Kevin, Harris, Peter C., Cavalleri, Gianpiero L., and Conlon, Peter

Published
2021
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26. All hands on deck during the COVID-19 pandemic. Maintaining face-to-face medical education and clinical placements.

Author

Humphreys, Hilary, Baxter, Ronan, Gilroy, Judith, Cavalleri, Gianpiero L., O'Connor, Tom, Kerrigan, Steve W., Fitzpatrick, Fidelma, Gilligan Quinn, Aoife, McConkey, Sam, and McGrogan, Kilian

Subjects
COVID-19 pandemic, CLINICAL medical education, MEDICAL students, COVID-19 vaccines, ANATOMY, HOSPITAL rounds, IMMUNOGLOBULINS
Abstract

Medical students must have robust educational experiences, graduate and commence timely employment. Here, we describe how the Royal College of Surgeons in Ireland (RCSI) delivered clinical placements in medical programmes over the first three waves of the COVID-19 pandemic in Ireland, including a student-centred, holistic approach to students' educational, social and health needs with strong student involvement, re-organising the university's primary care team, developing COVID-19 PCR testing on site and re-focusing communications and student services. This resulted in re-arranging the students into learning communities, and students and staff electronically recorded their COVID-19 symptom status daily. In-person observed structured clinical examination and other clinical exams progressed. No lockdown of any campus occurred. Over the two senior years, 693 students completed 15,000 weeks of clinical and experiential learning across 104 sites, similar to previous years, including anatomy practicals, procedural skills training, simulated ward rounds and patient encounters, case-based presentations and small group tutorials. The compliance rate with the daily symptom tracker was 91%. The percentage response rate and the number of students providing feedback from October 2020 to April 2021 was as high as 50%. The overall response rate was 33%. By mid-May, 93–95% of students in the two senior years had had at least one dose of the SARS-CoV-2 vaccine, with 99% fully vaccinated by the start of the next academic year in autumn 2021. Over the period of testing for SARS-CoV-2, just over 22,000 samples were processed, of which 0.79% were positive; no medical student acquired COVID-19 or was associated with nosocomial transmission. The total investment by the RCSI in Dublin, was €9.3m (€1.2 in capital expenditure and €8.1 in operational expenses). Continuing face-to-face clinical placements during a pandemic was possible through a multi-model approach that prioritised two-way communication, compliance with national public health advice and student screening. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Author

Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, and Bleyer, Anthony J.

Published
2020
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28. SJS/TEN 2019: From science to translation

Author

Chang, Wan-Chun, Abe, Riichiro, Anderson, Paul, Anderson, Wanpen, Ardern-Jones, Michael R., Beachkofsky, Thomas M., Bellón, Teresa, Biala, Agnieszka K., Bouchard, Charles, Cavalleri, Gianpiero L., Chapman, Nicole, Chodosh, James, Choi, Hyon K., Cibotti, Ricardo R., Divito, Sherrie J., Dewar, Karen, Dehaeck, Ulrike, Etminan, Mahyar, Forbes, Diane, Fuchs, Esther, Goldman, Jennifer L., Holmes, James H., IV, Hope, Elyse A., Hung, Shuen-Iu, Hsieh, Chia-Ling, Iovieno, Alfonso, Jagdeo, Julienne, Kim, Mee Kum, Koelle, David M., Lacouture, Mario E., Le Pallec, Sophie, Lehloenya, Rannakoe J., Lim, Robyn, Lowe, Angie, McCawley, Jean, McCawley, Julie, Micheletti, Robert G., Mockenhaupt, Maja, Niemeyer, Katie, Norcross, Michael A., Oboh, Douglas, Olteanu, Cristina, Pasieka, Helena B., Peter, Jonathan, Pirmohamed, Munir, Rieder, Michael, Saeed, Hajirah N., Shear, Neil H., Shieh, Christine, Straus, Sabine, Sukasem, Chonlaphat, Sung, Cynthia, Trubiano, Jason A., Tsou, Sheng-Ying, Ueta, Mayumi, Volpi, Simona, Wan, Chen, Wang, Hongsheng, Wang, Zhao-Qing, Weintraub, Jessica, Whale, Cindy, Wheatley, Lisa M., Whyte-Croasdaile, Sonia, Williams, Kristina B., Wright, Galen, Yeung, Sonia N., Zhou, Li, Chung, Wen-Hung, Phillips, Elizabeth J., and Carleton, Bruce C.

Published
2020
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30. Familial Variability of Disease Severity in Adult Patients With ADPKD

Author

Elhassan, Elhussein A.E., primary, O'Kelly, Patrick, additional, Collins, Kane E., additional, Teltsh, Omri, additional, Ciurli, Francesca, additional, Murray, Susan L., additional, Kennedy, Claire, additional, Madden, Stephen F., additional, Benson, Katherine A., additional, Cavalleri, Gianpiero L., additional, and Conlon, Peter J., additional

Published
2023
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31. The genetic landscape of Scotland and the Isles

Author

Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettigan, Darren, Vitart, Veronique, Joshi, Peter K., Clark, David W., Campbell, Harry, Hayward, Caroline, Ring, Susan M., Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M., Amador, Carmen, Campbell, Archie, Haley, Chris S., Porteous, David J., Cavalleri, Gianpiero L., and Wilson, James F.

Published
2019

32. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Author

Benson, Katherine A., White, Maire, Allen, Nicholas M., Byrne, Susan, Carton, Robert, Comerford, Elizabeth, Costello, Daniel, Doherty, Colin, Dunleavey, Brendan, El-Naggar, Hany, Gangadharan, Nisha, Heavin, Sinéad, Kearney, Hugh, Lench, Nicholas J., Lynch, John, McCormack, Mark, Regan, Mary O’, Podesta, Karl, Power, Kevin, Rogers, Anthony S., Steward, Charles A., Sweeney, Brian, Webb, David, Fitzsimons, Mary, Greally, Marie, Delanty, Norman, and Cavalleri, Gianpiero L.

Published
2020
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33. Genetic architecture of subcortical brain structures in 38,851 individuals

Author

Satizabal, Claudia L., Adams, Hieab H. H., Hibar, Derrek P., White, Charles C., Knol, Maria J., Stein, Jason L., Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V., Smith, Albert V., Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom V., Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D., Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E., Kim, Sungeun, Hoehn, David, Armstrong, Nicola J., Chen, Qiang, Holmes, Avram J., den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santiañez, Roberto, Kraemer, Bernd, Håberg, Asta K., Jones, Hannah J., Pike, G. Bruce, Stein, Dan J., Stevens, Allison, Bralten, Janita, Vernooij, Meike W., Harris, Tamara B., Filippi, Irina, Witte, A. Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H., Becker, James T., Doan, Nhat Trung, Hagenaars, Saskia P., Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M., Ames, David, Goldman, Aaron L., Lee, Phil H., Boomsma, Dorret I., Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M., Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M., Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E., Shin, Jean, Ipser, Jonathan C., Vinke, Louis N., Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K., Aribisala, Benjamin S., Schmidt, Helena, Strike, Lachlan T., Cheng, Ching-Yu, Risacher, Shannon L., Pütz, Benno, Fleischman, Debra A., Assareh, Amelia A., Mattay, Venkata S., Buckner, Randy L., Mecocci, Patrizia, Dale, Anders M., Cichon, Sven, Boks, Marco P., Matarin, Mar, Penninx, Brenda W. J. H., Calhoun, Vince D., Chakravarty, M. Mallar, Marquand, Andre F., Macare, Christine, Kharabian Masouleh, Shahrzad, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome I., Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig I., Wong, Tien Yin, Shen, Li, Sämann, Philipp G., Brodaty, Henry, Roffman, Joshua L., de Geus, Eco J. C., Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R., Cavalleri, Gianpiero L., van der Wee, Nic J. A., McIntosh, Andrew M., Gollub, Randy L., Bulayeva, Kazima B., Bernard, Manon, Richards, Jennifer S., Himali, Jayandra J., Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T., Valdés Hernández, Maria C., Hansell, Narelle K., van Erp, Theo G. M., Wolf, Christiane, Kwok, John B. J., Vellas, Bruno, Heinz, Andreas, Olde Loohuis, Loes M., Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R. K., Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M., Bastin, Mark E., Montgomery, Grant W., Foroud, Tatiana M., Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D., van Donkelaar, Marjolein M. J., Yang, Qiong, Hosten, Norbert, Green, Robert C, Thalamuthu, Anbupalam, Mohnke, Sebastian, Hulshoff Pol, Hilleke E., Lin, Honghuang, Jack, Jr, Clifford R., Schofield, Peter R., Mühleisen, Thomas W., Maillard, Pauline, Potkin, Steven G., Wen, Wei, Fletcher, Evan, Toga, Arthur W., Gruber, Oliver, Huentelman, Matthew, Davey Smith, George, Launer, Lenore J., Nyberg, Lars, Jönsson, Erik G., Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N., Uitterlinden, André G., Weinberger, Daniel R., Steen, Vidar M., Fedko, Iryna O., Groenewold, Nynke A., Niessen, Wiro J., Toro, Roberto, Tzourio, Christophe, Longstreth, Jr, William T., Ikram, M. Kamran, Smoller, Jordan W., van Tol, Marie-Jose, Sussmann, Jessika E., Paus, Tomas, Lemaître, Hervé, Schroeter, Matthias L., Mazoyer, Bernard, Andreassen, Ole A., Holsboer, Florian, Depondt, Chantal, Veltman, Dick J., Turner, Jessica A., Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J., McMahon, Katie L., Müller-Myhsok, Bertram, Brouwer, Rachel M., Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H., Cheung, Joshua W., Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P., Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G., Kanai, Ryota, Westman, Eric, Kahn, René S., Sisodiya, Sanjay M., White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G., Völzke, Henry, Wright, Margaret J., van ‘t Ent, Dennis, Nöthen, Markus M., Ophoff, Roel A., Buitelaar, Jan K., Fernández, Guillén, Sachdev, Perminder S., Rietschel, Marcella, van Haren, Neeltje E. M., Fisher, Simon E., Beiser, Alexa S., Francks, Clyde, Saykin, Andrew J., Mather, Karen A., Romanczuk-Seiferth, Nina, Hartman, Catharina A., DeStefano, Anita L., Heslenfeld, Dirk J., Weiner, Michael W., Walter, Henrik, Hoekstra, Pieter J., Nyquist, Paul A., Franke, Barbara, Bennett, David A., Grabe, Hans J., Johnson, Andrew D., Chen, Christopher, van Duijn, Cornelia M., Lopez, Oscar L., Fornage, Myriam, Wardlaw, Joanna M., Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L., Villringer, Arno, Debette, Stéphanie, Gudnason, Vilmundur, Medland, Sarah E., Shulman, Joshua M., Thompson, Paul M., Seshadri, Sudha, and Ikram, M. Arfan

Published
2019
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34. The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population

Author

Stapleton, Caragh P., Heinzel, Andreas, Guan, Weihua, van der Most, Peter J., van Setten, Jessica, Lord, Graham M., Keating, Brendan J., Israni, Ajay K., de Borst, Martin H., Bakker, Stephan J.L., Snieder, Harold, Weale, Michael E., Delaney, Florence, Hernandez-Fuentes, Maria P., Reindl-Schwaighofer, Roman, Oberbauer, Rainer, Jacobson, Pamala A., Mark, Patrick B., Chapman, Fiona A., Phelan, Paul J., Kennedy, Claire, Sexton, Donal, Murray, Susan, Jardine, Alan, Traynor, Jamie P., McKnight, Amy Jayne, Maxwell, Alexander P., Smyth, Laura J., Oetting, William S., Matas, Arthur J., Mannon, Roslyn B., Schladt, David P., Iklé, David N., Cavalleri, Gianpiero L., and Conlon, Peter J.

Published
2019
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36. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Author

Thompson, Paul M, Stein, Jason L, Medland, Sarah E, Hibar, Derrek P, Vasquez, Alejandro Arias, Renteria, Miguel E, Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J, Martin, Nicholas G, Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C, Andreassen, Ole A, Apostolova, Liana G, Appel, Katja, Armstrong, Nicola J, Aribisala, Benjamin, Bastin, Mark E, Bauer, Michael, Bearden, Carrie E, Bergmann, Ørjan, Binder, Elisabeth B, Blangero, John, Bockholt, Henry J, Bøen, Erlend, Bois, Catherine, Boomsma, Dorret I, Booth, Tom, Bowman, Ian J, Bralten, Janita, Brouwer, Rachel M, Brunner, Han G, Brohawn, David G, Buckner, Randy L, Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R, Calhoun, Vince D, Cannon, Dara M, Cantor, Rita M, Carless, Melanie A, Caseras, Xavier, Cavalleri, Gianpiero L, Chakravarty, M Mallar, Chang, Kiki D, Ching, Christopher RK, Christoforou, Andrea, Cichon, Sven, Clark, Vincent P, Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Deary, Ian J, de Geus, Eco JC, den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I, Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D, Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernández, Guillén, Fisher, Simon E, Foroud, Tatiana, Fox, Peter T, Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C, Godlewska, Beata, Goldstein, Rita Z, Gollub, Randy L, and Grabe, Hans J

Subjects
Biological Psychology, Health Sciences, Psychology, Mental Illness, Human Genome, Neurosciences, Brain Disorders, Schizophrenia, Biomedical Imaging, Mental Health, Genetics, 2.1 Biological and endogenous factors, Mental health, Neurological, Good Health and Well Being, Brain Mapping, Cooperative Behavior, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Neuroimaging, MRI, GWAS, Consortium, Meta-analysis, Multi-site, Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group, Medical and Health Sciences, Psychology and Cognitive Sciences, Experimental Psychology, Biomedical and clinical sciences, Health sciences
Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

Published
2014

38. Ancient genomes from Iceland reveal the making of a human population

Author

Ebenesersdóttir, S. Sunna, Sandoval-Velasco, Marcela, Gunnarsdóttir, Ellen D., Jagadeesan, Anuradha, Guðmundsdóttir, Valdís B., Thordardóttir, Elísabet L., Einarsdóttir, Margrét S., Moore, Kristjan H. S., Sigurðsson, Ásgeir, Magnúsdóttir, Droplaug N., Jónsson, Hákon, Snorradóttir, Steinunn, Hovig, Eivind, Møller, Pål, Kockum, Ingrid, Olsson, Tomas, Alfredsson, Lars, Hansen, Thomas F., Werge, Thomas, Cavalleri, Gianpiero L., Gilbert, Edmund, Lalueza-Fox, Carles, W.Walser, Joe, Kristjánsdóttir, Steinunn, Gopalakrishnan, Shyam, Árnadóttir, Lilja, Magnússon, Ólafur Þ., Gilbert, M. Thomas P., Stefánsson, Kári, and Helgason, Agnar

Published
2018

39. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Author

May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, De Jonghe, Peter, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Arfan Ikram, M, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, Ferlazzo, Edoardo, di Bonaventura, Carlo, La Neve, Angela, Tinuper, Paolo, Bisulli, Francesca, Vignoli, Aglaia, Capovilla, Giuseppe, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Langley, Sarah R, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah, Hengsbach, Christian, Sonsma, Anja C.M., Jonghe, Peter De, and Ikram, M Arfan

Published
2018
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40. Genetic Signatures Reveal High-Altitude Adaptation in a Set of Ethiopian Populations

Author

Huerta-Sánchez, Emilia, DeGiorgio, Michael, Pagani, Luca, Tarekegn, Ayele, Ekong, Rosemary, Antao, Tiago, Cardona, Alexia, Montgomery, Hugh E, Cavalleri, Gianpiero L, Robbins, Peter A, Weale, Michael E, Bradman, Neil, Bekele, Endashaw, Kivisild, Toomas, Tyler-Smith, Chris, and Nielsen, Rasmus

Subjects
Biological Sciences, Genetics, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Acclimatization, Altitude, Biological Evolution, Ethiopia, Gene Regulatory Networks, Genetics, Population, Genome-Wide Association Study, Humans, Hypoxia, Polymorphism, Single Nucleotide, Selection, Genetic, Transcriptome, adaptation to high altitude, natural selection, Biochemistry and Cell Biology, Evolutionary Biology, Biochemistry and cell biology, Evolutionary biology
Abstract

The Tibetan and Andean Plateaus and Ethiopian highlands are the largest regions to have long-term high-altitude residents. Such populations are exposed to lower barometric pressures and hence atmospheric partial pressures of oxygen. Such "hypobaric hypoxia" may limit physical functional capacity, reproductive health, and even survival. As such, selection of genetic variants advantageous to hypoxic adaptation is likely to have occurred. Identifying signatures of such selection is likely to help understanding of hypoxic adaptive processes. Here, we seek evidence of such positive selection using five Ethiopian populations, three of which are from high-altitude areas in Ethiopia. As these populations may have been recipients of Eurasian gene flow, we correct for this admixture. Using single-nucleotide polymorphism genotype data from multiple populations, we find the strongest signal of selection in BHLHE41 (also known as DEC2 or SHARP1). Remarkably, a major role of this gene is regulation of the same hypoxia response pathway on which selection has most strikingly been observed in both Tibetan and Andean populations. Because it is also an important player in the circadian rhythm pathway, BHLHE41 might also provide insights into the mechanisms underlying the recognized impacts of hypoxia on the circadian clock. These results support the view that Ethiopian, Andean, and Tibetan populations living at high altitude have adapted to hypoxia differently, with convergent evolution affecting different genes from the same pathway.

Published
2013

43. Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.

Author

Boothman, Isabelle, Clayton, Lisa M S, McCormack, Mark, Driscoll, Alexandra McKibben, Stevelink, Remi, Moloney, Patrick, Krause, Roland, Kunz, Wolfram W.S., Diehl, Sarah, O'Brien, Terence, Sills, Graeme, de Haan, Gerrit Jan, Zara, Federico, Koeleman, B.P.C., Depondt, Chantal, Marson, Anthony Guy, Stefansson, Hreinn, Stefansson, Kari, Craig, John, Johnson, Michael R, Striano, Pasquale, Lerche, Holger, Furney, Simon, Delanty, Norman, Consortium EpiPGX, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Boothman, Isabelle, Clayton, Lisa M S, McCormack, Mark, Driscoll, Alexandra McKibben, Stevelink, Remi, Moloney, Patrick, Krause, Roland, Kunz, Wolfram W.S., Diehl, Sarah, O'Brien, Terence, Sills, Graeme, de Haan, Gerrit Jan, Zara, Federico, Koeleman, B.P.C., Depondt, Chantal, Marson, Anthony Guy, Stefansson, Hreinn, Stefansson, Kari, Craig, John, Johnson, Michael R, Striano, Pasquale, Lerche, Holger, Furney, Simon, Delanty, Norman, Consortium EpiPGX, Sisodiya, Sanjay M, and Cavalleri, Gianpiero L

Abstract

The anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown. Average peripapillary retinal nerve fibre layer (ppRNFL) thickness correlates with the degree of visual field loss (measured by mean radial degrees). Duration of VGB exposure, maximum daily VGB dose, and male sex are associated with ppRNFL thinning. Here we test the hypothesis that common genetic variation is a predictor of ppRNFL thinning in VGB exposed individuals. Identifying pharmacogenomic predictors of ppRNFL thinning in VGB exposed individuals could potentially enable safe prescribing of VGB and broader use of a highly effective drug., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2023

44. The genetic history of Scandinavia from the Roman Iron Age to the present

Author

Especialidades médico-quirúrgicas, Medikuntza eta kirurgia espezialitateak, Rodríguez Varela, Ricardo, Moore, Kristjan H. S., Ebenesersdottir, S. Sunna, Kilinc, Gulsah Merve, Kjellström, Anna, Papmehl-Dufay, Ludvig, Alfsdotter, Clara, Berglund, Birgitta, Alrawi, Loey, Kashuba, Natalija, Sobrado, Verónica, Lagerholm, Vendela Kempe, Gilbert, Edmund, Cavalleri, Gianpiero L., Hovig, Eivind, Kockum, Ingrid, Olsson, Tomas, Alfredsson, Lars, Hansen, Thomas F., Werge, Thomas, Munters, Arielle R., Bernhardsson, Carolina, Skar, Birgitte, Christophersen, Axel, Turner-Walker, Gordon, Gopalakrishnan, Shyam, Daskalaki, Eva, Omrak, Ayca, Pérez Ramallo, Patxi, Skoglund, Pontus, Girdland-Flink, Linus, Gunnarsson, Fredrik, Hedenstierna-Jonson, Charlotte, Gilbert, M. Thomas P., Liden, Kerstin, Jakobsson, Mattias, Einarsson, Lars, Victor, Helena, Krzewinska, Maja, Zachrisson, Torun, Stora, Jan, Stefansson, Kari, Helgason, Agnar, Götherström, Anders, Especialidades médico-quirúrgicas, Medikuntza eta kirurgia espezialitateak, Rodríguez Varela, Ricardo, Moore, Kristjan H. S., Ebenesersdottir, S. Sunna, Kilinc, Gulsah Merve, Kjellström, Anna, Papmehl-Dufay, Ludvig, Alfsdotter, Clara, Berglund, Birgitta, Alrawi, Loey, Kashuba, Natalija, Sobrado, Verónica, Lagerholm, Vendela Kempe, Gilbert, Edmund, Cavalleri, Gianpiero L., Hovig, Eivind, Kockum, Ingrid, Olsson, Tomas, Alfredsson, Lars, Hansen, Thomas F., Werge, Thomas, Munters, Arielle R., Bernhardsson, Carolina, Skar, Birgitte, Christophersen, Axel, Turner-Walker, Gordon, Gopalakrishnan, Shyam, Daskalaki, Eva, Omrak, Ayca, Pérez Ramallo, Patxi, Skoglund, Pontus, Girdland-Flink, Linus, Gunnarsson, Fredrik, Hedenstierna-Jonson, Charlotte, Gilbert, M. Thomas P., Liden, Kerstin, Jakobsson, Mattias, Einarsson, Lars, Victor, Helena, Krzewinska, Maja, Zachrisson, Torun, Stora, Jan, Stefansson, Kari, Helgason, Agnar, and Götherström, Anders

Abstract

Scandinavia spanning the Iron Age to the present, based on 48 new and 249 published ancient genomes and genotypes from 16,638 modern individuals. We find regional variation in the timing and magnitude of gene flow from three sources: the eastern Baltic, the British-Irish Isles, and southern Europe. British-Irish ancestry was widespread in Scandinavia from the Viking period, whereas eastern Baltic ancestry is more localized to Gotland and central Sweden. In some regions, a drop in current levels of external ancestry suggests that ancient immigrants contributed proportionately less to the modern Scandinavian gene pool than indicated by the ancestry of genomes from the Viking and Medieval periods. Finally, we show that a north-south genetic cline that characterizes modern Scandinavians is mainly due to the differential levels of Uralic ancestry and that this cline existed in the Viking Age and possibly earlier.

Published
2023

45. Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

Author

Alhusaini, Saud, Kowalczyk, Magdalena A., Yasuda, Clarissa L., Semmelroch, Mira K., Katsurayama, Marilise, Zabin, Matheus, Zanão, Tamires, Nogueira, Mateus H., Alvim, Marina K.M., Ferraz, Victória R., Tsai, Meng-Han, Fitzsimons, Mary, Lopes-Cendes, Iscia, Doherty, Colin P., Cavalleri, Gianpiero L., Cendes, Fernando, Jackson, Graeme D., and Delanty, Norman

Published
2019
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47. The population genomic legacy of the second plague pandemic

Author

Gopalakrishnan, Shyam, primary, Ebenesersdóttir, S. Sunna, additional, Lundstrøm, Inge K.C., additional, Turner-Walker, Gordon, additional, Moore, Kristjan H.S., additional, Luisi, Pierre, additional, Margaryan, Ashot, additional, Martin, Michael D., additional, Ellegaard, Martin Rene, additional, Magnússon, Ólafur þ., additional, Sigurðsson, Ásgeir, additional, Snorradóttir, Steinunn, additional, Magnúsdóttir, Droplaug N., additional, Laffoon, Jason E., additional, van Dorp, Lucy, additional, Liu, Xiaodong, additional, Moltke, Ida, additional, Ávila-Arcos, María C., additional, Schraiber, Joshua G., additional, Rasmussen, Simon, additional, Juan, David, additional, Gelabert, Pere, additional, de-Dios, Toni, additional, Fotakis, Anna K., additional, Iraeta-Orbegozo, Miren, additional, Vågene, Åshild J., additional, Denham, Sean Dexter, additional, Christophersen, Axel, additional, Stenøien, Hans K., additional, Vieira, Filipe G., additional, Liu, Shanlin, additional, Günther, Torsten, additional, Kivisild, Toomas, additional, Moseng, Ole Georg, additional, Skar, Birgitte, additional, Cheung, Christina, additional, Sandoval-Velasco, Marcela, additional, Wales, Nathan, additional, Schroeder, Hannes, additional, Campos, Paula F., additional, Guðmundsdóttir, Valdís B., additional, Sicheritz-Ponten, Thomas, additional, Petersen, Bent, additional, Halgunset, Jostein, additional, Gilbert, Edmund, additional, Cavalleri, Gianpiero L., additional, Hovig, Eivind, additional, Kockum, Ingrid, additional, Olsson, Tomas, additional, Alfredsson, Lars, additional, Hansen, Thomas F., additional, Werge, Thomas, additional, Willerslev, Eske, additional, Balloux, Francois, additional, Marques-Bonet, Tomas, additional, Lalueza-Fox, Carles, additional, Nielsen, Rasmus, additional, Stefánsson, Kári, additional, Helgason, Agnar, additional, and Gilbert, M. Thomas P., additional

Published
2022
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48. Population history and genome wide association studies of birth weight in a native high altitude Ladakhi population

Author

Bhandari, Sushil, primary, Dolma, Padma, additional, Mukerji, Mitali, additional, Prasher, Bhavana, additional, Montgomery, Hugh, additional, Kular, Dalvir, additional, Jain, Vandana, additional, Dadhwal, Vatsla, additional, Williams, David J., additional, Bhattacharyaa, Aniket, additional, Gilbert, Edmund, additional, Cavalleri, Gianpiero L., additional, and Hillman, Sara L., additional

Published
2022
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49. Characterization of the Y Chromosome in Newfoundland and Labrador: Evidence of a Founder Effect

Author

Zurel, Heather, primary, Bhérer, Claude, additional, Batten, Ryan, additional, MacMillan, Margaret E., additional, Demiriz, Sedat, additional, Mirhendi, Sadra, additional, Gilbert, Edmund, additional, Cavalleri, Gianpiero L., additional, Leach, Richard A., additional, Scott, Roderick E. M., additional, Mugford, Gerald, additional, Randhawa, Ranjit, additional, Symington, Alison L., additional, Stephens, J. Claiborne, additional, and Phillips, Michael S., additional

Published
2022
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50. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

Author

Whelan, Christopher D, Altmann, Andre, Botía, Juan A, Jahanshad, Neda, Hibar, Derrek P, Absil, Julie, Alhusaini, Saud, Alvim, Marina K M, Auvinen, Pia, Bartolini, Emanuele, Bergo, Felipe P G, Bernardes, Tauana, Blackmon, Karen, Braga, Barbara, Caligiuri, Maria Eugenia, Calvo, Anna, Carr, Sarah J, Chen, Jian, Chen, Shuai, Cherubini, Andrea, David, Philippe, Domin, Martin, Foley, Sonya, França, Wendy, Haaker, Gerrit, Isaev, Dmitry, Keller, Simon S, Kotikalapudi, Raviteja, Kowalczyk, Magdalena A, Kuzniecky, Ruben, Langner, Soenke, Lenge, Matteo, Leyden, Kelly M, Liu, Min, Loi, Richard Q, Martin, Pascal, Mascalchi, Mario, Morita, Marcia E, Pariente, Jose C, Rodríguez-Cruces, Raul, Rummel, Christian, Saavalainen, Taavi, Semmelroch, Mira K, Severino, Mariasavina, Thomas, Rhys H, Tondelli, Manuela, Tortora, Domenico, Vaudano, Anna Elisabetta, Vivash, Lucy, von Podewils, Felix, Wagner, Jan, Weber, Bernd, Yao, Yi, Yasuda, Clarissa L, Zhang, Guohao, Bargalló, Nuria, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris C, Blümcke, Ingmar, Carlson, Chad, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P, Focke, Niels K, Gambardella, Antonio, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Kälviäinen, Reetta, Kochunov, Peter, Kwan, Patrick, Labate, Angelo, McDonald, Carrie R, Meletti, Stefano, OʼBrien, Terence J, Ourselin, Sebastien, Richardson, Mark P, Striano, Pasquale, Thesen, Thomas, Wiest, Roland, Zhang, Junsong, Vezzani, Annamaria, Ryten, Mina, Thompson, Paul M, and Sisodiya, Sanjay M

Published
2018
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