Search Results - "Carracedo, Angel"

Social camouflaging in females with autism spectrum disorder: A systematic review by Tubío-Fungueiriño, María, Cruz, Sara, Sampaio, Adriana, Carracedo, Angel, Fernández-Prieto, Montse

“…Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing prevalence, and a male-to-female ratio of 4:1. Research has been suggesting…”
Get full text

UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes by Rodriguez-Fontenla, Cristina, Carracedo, Angel

“…Autism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may significantly impact on the affected individual’s life. Common variation…”
Get full text

HLA alleles: important pieces to the COVID-19 puzzle by Castro-Santos, Patricia, Carracedo, Ángel, Díaz-Peña, Roberto

“…Research on human leukocyte antigen (HLA) molecules in coronavirus disease 2019 (COVID-19) raised high expectations but has yielded limited results. Augusto et…”
Get full text

The human early-life exposome (HELIX): project rationale and design by Vrijheid, Martine, Slama, Rémy, Robinson, Oliver, Chatzi, Leda, Coen, Muireann, van den Hazel, Peter, Thomsen, Cathrine, Wright, John, Athersuch, Toby J, Avellana, Narcis, Basagaña, Xavier, Brochot, Celine, Bucchini, Luca, Bustamante, Mariona, Carracedo, Angel, Casas, Maribel, Estivill, Xavier, Fairley, Lesley, van Gent, Diana, Gonzalez, Juan R, Granum, Berit, Gražulevičienė, Regina, Gutzkow, Kristine B, Julvez, Jordi, Keun, Hector C, Kogevinas, Manolis, McEachan, Rosemary R C, Meltzer, Helle Margrete, Sabidó, Eduard, Schwarze, Per E, Siroux, Valérie, Sunyer, Jordi, Want, Elizabeth J, Zeman, Florence, Nieuwenhuijsen, Mark J

“…Developmental periods in early life may be particularly vulnerable to impacts of environmental exposures. Human research on this topic has generally focused on…”
Get full text

Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing by Pereira, Rui, Phillips, Christopher, Pinto, Nádia, Santos, Carla, dos Santos, Sidney Emanuel Batista, Amorim, António, Carracedo, Ángel, Gusmão, Leonor

“…Ancestry-informative markers (AIMs) show high allele frequency divergence between different ancestral or geographically distant populations. These genetic…”
Get full text

An overview of STRUCTURE: applications, parameter settings, and supporting software by Porras-Hurtado, Liliana, Ruiz, Yarimar, Santos, Carla, Phillips, Christopher, Carracedo, Angel, Lareu, Maria V

“…We present an up-to-date review of STRUCTURE software: one of the most widely used population analysis tools that allows researchers to assess patterns of…”
Get full text

De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis by Alonso-Gonzalez, Aitana, Rodriguez-Fontenla, Cristina, Carracedo, Angel

“…Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by…”
Get full text

A new multiplex for human identification using insertion/deletion polymorphisms by Pereira, Rui, Phillips, Christopher, Alves, Cíntia, Amorim, António, Carracedo, Ángel, Gusmão, Leonor

“…Human identification is usually based on the study of STRs or SNPs depending on the particular characteristics of the investigation. However, other types of…”
Get full text

Synaptic, transcriptional and chromatin genes disrupted in autism by De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma’ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Jeremy Willsey, A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.

“…The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome…”
Get full text

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases by Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns

“…Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,”…”
Get full text

Executive functioning: A mediator between sensory processing and behaviour in autism spectrum disorder by Fernandez-Prieto, Montse, Moreira, Célia, Cruz, Sara, Campos, Vânia, Martínez-Regueiro, Rocío, Taboada, Maria, Carracedo, Angel, Sampaio, Adriana

“…Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, executive functioning, sensory-perceptual…”
Get full text

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder by Lim, Elaine T, Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S, Zhang, Xiaochang, D'Gama, Alissa M, Kim, Sonia N, Hill, Robert Sean, Goldberg, Arthur P, Poultney, Christopher, Minshew, Nancy J, Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J, Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M, Weiss, Lauren A, Fromer, Menachem, Chiocchetti, Andreas G, Freitag, Christine M, Church, George M, Scherer, Stephen W, Buxbaum, Joseph D, Walsh, Christopher A

“…Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between…”
Get full text

The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders by Weber, Samantha, Rey Álvarez, Lucía Trinidad, Ansede-Bermejo, Juan, Cruz, Raquel, del Real, Álvaro, Bühler, Janine, Carracedo, Ángel, Aybek, Selma

“…We studied gene-environment, as well as gene-gene interaction to elucidate their effects on symptom severity and predict clinical outcomes in functional…”
Get full text

Neutrophil to lymphocyte ratio and breast cancer risk: analysis by subtype and potential interactions by Gago-Dominguez, Manuela, Matabuena, Marcos, Redondo, Carmen M., Patel, Sandip Pravin, Carracedo, Angel, Ponte, Sara Miranda, Martínez, María Elena, Castelao, J. Esteban

“…Multiple studies have found the neutrophil to lymphocyte ratio (NLR) to be associated with adverse breast cancer (BC) prognosis and survival. Very limited data…”
Get full text

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice by Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing, Elisabeth J, Hugelshofer, Michael, Wurnig, Moritz C, Kaech, Andres, Reimann, Regina, Lohmann, Katja, Dobričić, Valerija, Carracedo, Angel, Petrović, Igor, Miyasaki, Janis M, Abakumova, Irina, Mäe, Maarja Andaloussi, Raschperger, Elisabeth, Zatz, Mayana, Zschiedrich, Katja, Klepper, Jörg, Spiteri, Elizabeth, Prieto, Jose M, Navas, Inmaculada, Preuss, Michael, Dering, Carmen, Janković, Milena, Paucar, Martin, Svenningsson, Per, Saliminejad, Kioomars, Khorshid, Hamid R K, Novaković, Ivana, Aguzzi, Adriano, Boss, Andreas, Le Ber, Isabelle, Defer, Gilles, Hannequin, Didier, Kostić, Vladimir S, Campion, Dominique, Geschwind, Daniel H, Coppola, Giovanni, Betsholtz, Christer, Klein, Christine, Oliveira, Joao R M

“…Christer Betsholtz, Christine Klein, Maria Sobrido and colleagues report the identification of mutations in the gene encoding PDGF-B that cause idiopathic…”
Get full text

Forensic genetics and genomics: Much more than just a human affair by Arenas, Miguel, Pereira, Filipe, Oliveira, Manuela, Pinto, Nadia, Lopes, Alexandra M, Gomes, Veronica, Carracedo, Angel, Amorim, Antonio

“…While traditional forensic genetics has been oriented towards using human DNA in criminal investigation and civil court cases, it currently presents a much…”
Get full text

Examining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study by Guloksuz, Sinan, Pries, Lotta‐Katrin, Delespaul, Philippe, Kenis, Gunter, Luykx, Jurjen J., Lin, Bochao D., Richards, Alexander L., Akdede, Berna, Binbay, Tolga, Altınyazar, Vesile, Yalınçetin, Berna, Gümüş‐Akay, Güvem, Cihan, Burçin, Soygür, Haldun, Ulaş, Halis, Cankurtaran, EylemŞahin, Kaymak, Semra Ulusoy, Mihaljevic, Marina M., Petrovic, Sanja Andric, Mirjanic, Tijana, Bernardo, Miguel, Cabrera, Bibiana, Bobes, Julio, Saiz, Pilar A., García‐Portilla, María Paz, Sanjuan, Julio, Aguilar, Eduardo J., Santos, José Luis, Jiménez‐López, Estela, Arrojo, Manuel, Carracedo, Angel, López, Gonzalo, González‐Peñas, Javier, Parellada, Mara, Maric, Nadja P., Atbaşog˘lu, Cem, Ucok, Alp, Alptekin, Köksal, Saka, Meram Can, Arango, Celso, O'Donovan, Michael, Rutten, Bart P.F., van Os, Jim, Alizadeh, Behrooz Z., van Amelsvoort, Therese, van Beveren, Nico J., Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Delespaul, Philippe, Luykx, Jurjen J., Myin‐Germeys, Inez, van Winkel, Ruud, van Os, Jim

“…Schizophrenia is a heritable complex phenotype associated with a background risk involving multiple common genetic variants of small effect and a multitude of…”
Get full text

New guidelines for the publication of genetic population data by Carracedo, Ángel, Butler, John M, Gusmão, Leonor, Linacre, Adrian, Parson, Walther, Roewer, Lutz, Schneider, Peter M

Get full text

SNPs in forensic genetics: a review on SNP typing methodologies by Sobrino, Beatriz, Brión, María, Carracedo, Angel

“…There is an increasing interest in single nucleotide polymorphism (SNP) typing in the forensic field, not only for the usefulness of SNPs for defining Y…”
Get full text

Global patterns of STR sequence variation: Sequencing the CEPH human genome diversity panel for 58 forensic STRs using the Illumina ForenSeq DNA Signature Prep Kit by Phillips, Christopher, Devesse, Laurence, Ballard, David, Weert, Leanne, la Puente, Maria, Melis, Stefania, Álvarez Iglesias, Vanessa, Freire‐Aradas, Ana, Oldroyd, Nicola, Holt, Cydne, Syndercombe Court, Denise, Carracedo, Ángel, Lareu, Maria Victoria

“…The 944 individuals of the CEPH human genome diversity panel (HGDP–CEPH), a standard sample set of 51 globally distributed populations, were sequenced using…”
Get full text