André Reis
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Articles by André Reis
7 COISAS QUE APRENDI COM NIALL FERGUSON: 1. A Guerra Fria 2.0 vai ter consequências mais drásticas ao Ocidente do que se espera 2. Ramones é a maior banda punk não-inglesa e todos deveriam… | Thiago Salomão
7 COISAS QUE APRENDI COM NIALL FERGUSON: 1. A Guerra Fria 2.0 vai ter consequências mais drásticas ao Ocidente do que se espera 2. Ramones é a maior banda punk não-inglesa e todos deveriam ouvir 3. O novo presidente do Federal Reserve será bem mais independente do que se imagina - o mercado vai ter que se ajustar a isso 4. O problema fiscal do Brasil é bem diferente do que estamos focando - e a situação é mais emergencial do que imaginamos 5.
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies
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Abstract The genetic variants that cause inherited myopathies vary widely in type, size and sequence context, encompassing small sequence variants, large structural variants, repeat expansions, and more complex events, such as the D4Z4 macrosatellite contraction and hypomethylation that causes facioscapulohumeral muscular dystrophy. Many of these are challenging to characterise using next-generation sequencing and other older molecular technologies.
By Dennis Yeow, André Reis, Igor Stevanovski, Laura I. Rudaks, Bianca R Grosz, Joanne Sy, Leah Kemp, Sanjog Chintalaphani, Michael Chin, Danqing Zhu, Christina Liang, Katrina Morris, Andrew Hannaford, Ehsan Esmaili Shandiz, Kate Ahmad, Shadi El-Wahsh, Stephen W Reddel, Robert Boland-Freitas, Roula Ghaoui, Stephanie Barnes, Jonathan Sturm, Anna Willard, Mahi Jasinarachchi, Simon Hawke, Neil Simon, Lisa Worgan, David Manser, Michel Tchan, Neil Griffith, Ryan Davis, Carolyn M. Sue, Pamela A McCombe, Karl Ng, Marina L Kennerson, Pak Leng Cheong, Kishore Kumar, Ira W. Deveson, Neysa Njo, Marion Stoll
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Nature
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DNA methylation reprogramming in marsupial embryos is restricted to the extraembryonic lineage
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Abstract DNA methylation (5mC) is an epigenetic mark that plays a critical role in defining cell fate. Following fertilisation, DNA methylation inherited from gametes must be reprogrammed to establish totipotency and enable the parental-to-zygotic transition. To accomplish this, non-mammalian vertebrates such as zebrafish and medaka subtly reprogramme maternal 5mC profiles while maintaining high methylation levels throughout embryogenesis.
By Allegra Angeloni, Jillian Hammond, Timothy Peters, André Reis, Leah Kemp, Timothy Amos, Hasindu Gamaarachchi, Sam Humphries, Suranjana Pal, V. Pragathi Masamsetti, Megan Weatherstone, Ruth Lyons, Ning Liu, Patrick P.L. Tam, Jose Polo Verified, Paul Waters, Susan Clark, Linda Richards, Andrew Smith, Heather Lee, Ira W. Deveson, Oliver Griffith, Ksenia Skvortsova, Lynda A. Wilmott, Karina Pazaky, Alice Steel, Elly D. Walters
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Nature
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Correction: Comprehensive analysis of CNOT3 -related neurodevelopmental disorders: phenotypic and genotypic characterization
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Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-025-01884-z, published online 25 June 2025 In the original article last name of author Emilia K. Bijlsma was incorrectly written as Bijlsmaa. The original article has been corrected. About this article Engel, C., Rendek, M., Assoumani, J. et al. Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. Eur J Hum Genet (2026).
By Camille Engel, Emanuela Argilli, Pierre Blanc, Lucía Bruno, Bert Louis Callewaert, Valeria Capra, Michele Carullo, Bertrand Chesneau, Sandra Coppens, Cynthia Curry, Breanne Dale, Eric Dahlen, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Lenka Dvorakova, Jan Fischer, David Geneviève, Thea Giacomini, Irina Hüning, Bertrand Isidor, Boris Keren, Stanislav Kmoch, David A. Koolen, Andrea Kübler, Carolyn Le, Jonathan Levy, Caterina Rizzo, Silvia Maitz, Sandrine Marlin, Cyril Mignot, Ghayda M. Mirzaa, Inga Nagel, Sebastian Neuens, Emily M Pao, Julie Plaisancié, Flavia Privitera, André Reis, Alessandra Renieri, Marlene Rio, Alyssa L. Rippert, Lukáš Ryba, Jolanda H. Schieving, Elliott H. Sherr, Andrew Y. Shuen, Richard Sidlow, Thomas Smol, Julie Soblet, Pasquale Striano, Mohnish Suri, Frédéric Tran Mau-Them, André M. Travessa, Julien Van Gils, Georgia Vasileiou, Jolijn Verseput, Catheline Vilain, Catherine Vincent-Delorme, Emma L. Wakeling, Pia Zacher, Federico Zara, Paul Kuentz, Juliette Piard, Michaela Rendek, Jessica Assoumani, Francesca Ariani, Anne-Laude Avice-Denizet, Emilia K. Bijlsma, Bénédicte Demeer, Mette M. Handrup, Michelle Iacomino, Lenka Nosková, Anna Pecková, Joseph Porrmann, Hannes Syryn, Emílie Vyhnálková
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Nature
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“Se a guerra persistir, haverá efeitos seriamente adversos na economia”, avisa Castro Almeida
O ministro da Economia avisou hoje que se a guerra EUA-Irão se prolongar a economia será “seriamente” afetada tanto em Portugal como a nível global, com o disparo nos preços do petróleo e do gás.
Ministro da Economia diz que “excesso de prudência” dos bancos “atrasa o crescimento económico”
O ministro da Economia disse hoje que há uma “situação anómala” no crédito concedido pelos bancos às empresas, alertando que as empresas “queixam-se de uma excessiva retração” da banca e que o “excesso de prudência atrasa o crescimento económico”. O ministro aponta que os bancos não estão a conceder empréstimos às empresas, mesmo quando o Estado garante 80% dos empréstimos, sendo que a garantia pública serve para alavancar empresas.
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization - European Journal of Human Genetics
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Abstract The CCR4-NOT complex, crucial in gene expression regulation, includes CNOT3, a subunit linked to neurodevelopmental disorders when mutated. This study investigates 51 patients from 42 families with heterozygous CNOT3 variants, aiming to expand the understanding of CNOT3-related neurodevelopmental disorders and explore genotype-phenotype correlations. Patients originated from various countries, reflecting the disorder’s global significance.
By Camille Engel, Pierre Blanc, Bert Louis Callewaert, Valeria Capra, Michele Carullo, Bertrand Chesneau, Breanne Dale, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Jan Fischer, David Geneviève, Stanislav Kmoch, David A. Koolen, Carolyn Le, Jonathan Levy, Sandrine Marlin, Ghayda M. Mirzaa, Sebastian Neuens, Julie Plaisancié, Flavia Privitera, André Reis, Marlene Rio, Andrew Y. Shuen, Thomas Smol, Pasquale Striano, Julien Van Gils, Pia Zacher, Federico Zara, Paul Kuentz
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Nature
Verified
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption - Nature Genetics
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Abstract The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 50 snRNA-encoding genes in a French cohort of 23,649 individuals with rare disorders and gathered additional cases through international collaborations.
By Caroline Nava, Benjamin Cogné, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah Stenton, Sonja Neuser, Konrad Platzer, Chloé Angelini, Benoît Arveiler, Tahsin Stefan Barakat, Stéphanie Baulac, Claire Beneteau, Stéphane Bézieau, Samantha J. Bryen, Julien Buratti, Almuth Caliebe, John Christodoulou, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Christèle Dubourg, Salima El Chehadeh, Laurence Faivre, Mélanie Fradin, Svetlana Gorokhova, Mathilde Gras, John M. Greally, Saurav Guha, Tobias B. Haack, Madeleine Harris, Marc-Phillip Hitz, A. Micheil Innes, Celine Jost, Petra Ketteler, Fabian Kilpert, Florian Kraft, Steven S. Laurie, Louis Lebreton, Gaetan Lesca, Jonathan Levy, Agnes Linglart, Jean-Louis Mandel, Víctor Marín, Henri Margot, Johannes A. Mayr, Vincent Michaud, Matthew J. Osmond, Katrin Õunap, Laurent Pasquier, Sandrine Passemard, Melissa Pauly, Christophe Philippe, Annapurna Poduri, Aurora Pujol, Caroline A. Racine, Francis Ramond, André Reis, Rocio Rius, Diana Rodriguez, Clément Sauvestre, Christopher Schröder, Malte Spielmann, Mark Tarnopolsky, Annick Toutain, Frédéric Tran Mau-Them, Julien Van-Gils, Gabriella Vera, André Verdel, Alain Verloes, Marie Vincent, Wojciech P. Galej, Pierre Marijon, Marlene Rio, Séverine Drunat, Nicolas Chatron, Amélie Piton, Gaël Nicolas, Matias Wagner, Rami Abou Jamra, Anne H. O’Donnell-Luria, Nicola Whiffin, Abhilasha Jakhar, Auriane Cospain, Kevin Lüthy, Agatha Schlüter Martin, Harald Surowy, Yoann Vial
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Nature
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A telomere to telomere phased genome assembly and annotation for the Australian central bearded dragon Pogona vitticeps
H.R.P., I.W.D., A.L.M-R., A.G. have previously received travel and accommodation expenses from ONT and/or PacBio to speak at conferences. I.W.D. has a paid consultant role with Sequin Pty Ltd. The authors declare no other competing interests.
Adaptively integrated sequencing and assembly of near-complete genomes
Abstract Recent advances in long-read sequencing (LRS) and assembly algorithms have made it possible to create highly complete genome assemblies for humans, animals, plants and other eukaryotes. However, there is a need for ongoing development to improve accessibility and affordability of the required data, increase the range of usable sample types, and reliably resolve the most challenging, repetitive genome regions.
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets - Nature Communications
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Abstract Psoriasis is a common, debilitating immune-mediated skin disease. Genetic studies have identified biological mechanisms of psoriasis risk, including those targeted by effective therapies. However, the genetic liability to psoriasis is not fully explained by variation at robustly identified risk loci.
By Nick Dand, John Bowes, David Ellinghaus, Jake Saklatvala, Maris Teder-Laving, Laurent Thomas, Allison C. Billi, Matthew Brown Verified, Francesca Capon, Michael Duckworth, Eva Ellinghaus, Oliver FitzGerald, Per Hoffmann, Satveer K. Mahil, Ross McManus, Markus M Nöthen, Jorge R. Oksenberg, Matthew T. Patrick, Andreas Ramming, Jürgen Rech, Mrinal K. Sarkar, Georg Schett, Trilokraj Tejasvi, John Voorhees Verified, Eike Matthias Wacker, Rachael Wasikowski, Stephan Weidinger, Xiaoquan Wen, Anne Barton, Andre Franke, Dafna D Gladman, Johann E. Gudjonsson, Ulrike Hüffmeier, Wilson Liao, Mari Løset, Reedik Mägi, André Reis, Paola Di Meglio, Michael Simpson, Harald Burkhardt
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Nature
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A realidade do dirigismo desportivo em Portugal
Não podemos esconder: há uma crise no dirigismo desportivo em Portugal e a capacidade de recrutamento de dirigentes para o setor desportivo é cada vez menor. Muitos de nós já ouvimos falar da dificuldade que os clubes desportivos das nossas localidades estão a atravessar para reunirem pessoas disponíveis para a vida associativa. Estes vazios são caminho aberto e muito tentador para atraírem para o sistema aqueles que não estão comprometidos com os valores fundamentais do desporto.
O Desporto em Portugal: o que os portugueses precisam de saber
O desporto em Portugal: o que os portugueses precisam de saber 1. Segundo os dados do último Eurobarómetro de desporto e atividade física, Portugal é o país da UE com pior atividade física: 73% dos portugueses dizem não praticar atividade física ou desportiva. Se queremos aumentar o número de atletas que chegam ao topo da pirâmide (alto rendimento), precisamos de alargar a sua base, isto é, aumentar rapidamente o nosso índice de prática desportiva; 2.
Soybean planting dates and maturity groups: Maximizing yield potential and decreasing risk in Louisiana
ESPS early soybean production system LSU Louisiana State University MG maturity group 1 INTRODUCTION Soybean [Glycine max (L.) Merr.] growth and development are influenced by planting dates due to the effect of different temperatures and daylengths throughout key stages of yield formation (Constable & Rose, 1988; Garner & Allard, 1920; Grimm et al., 1994; Islam et al., 2019; Summerfield et al., 1993; Thomas & Raper, 1976).
Kantar, tp bennet: el genio del lugar
IdiomacatalàDeutschEnglishespañoleuskarafrançaisgalegoitalianoportuguêsromână
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals - European Journal of Human Genetics
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Abstract Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].
By Emily E. Lubin, Annabel K. Sangree, Rajesh Angireddy, Roberto Mendoza-Londono, Lucie Dupuis, Irene Valenzuela, Wendy Chung, Nicola Longo, Konrad Platzer, Christiane Zweier, André Reis, Tugce B. Balci, Nikolaos M. Marinakis, Danai Veltra, Christalena Sofocleous, Mathew Wallis, Lyndon Gallacher, R. Frank Kooy, Radka Stoeva, Manon Suerink, Dana E. Layo-Carris, Katie Clarkson, Joanne Traeger Synodinos, Marie-Laure Vuillaume, Estelle Colin, Fatma Majdoub, Noor Smal, Nicholas A. Borja, Esther Nibbeling
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Nature
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Determinación indirecta, mediante marcadores de ADN, del estado de portadoras de distrofia muscular de Duchenne (DMD) en una familia costarricense
Determinación indirecta, mediante marcadores de ADN, del estado de portadoras de distrofia muscular de Duchenne (DMD) en una familia costarricense Autores: Gabriela Chavarría, André Reis, Jorge Azofeifa Localización: Acta Pediátrica Costarricense, ISSN-e 1409-0090, Vol. 16, Nº. 1, 2002, págs. 32-38 Idioma: español Enlaces Texto completo Resumen Objetivo. Estimar el riesgo de ser portadoras a mujeres emparentadas por línea materna con un paciente afectado con DMD. Sitio de realización.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder - European Journal of Human Genetics
Abstract Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1.
The landscape of genomic structural variation in Indigenous Australians
Abstract Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference databases. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.
Jornal Médico - Recertificação em Medicina – Mito ou Necessidade?
Recertificação em Medicina – Mito ou Necessidade? A Medicina é uma área em permanente evolução, com avanços tecnológicos constantes e mudanças epidemiológicas (um exemplo paradigmático é a recente pandemia de COVID-19). Por outro lado, também as alterações demográficas, com o crescente envelhecimento da população e as múltiplas patologias que acarreta, representam um novo e permanente desafio.
Jornal Médico - Recertificação em Medicina – Mito ou Necessidade?
A Medicina é uma área em permanente evolução, com avanços tecnológicos constantes e mudanças epidemiológicas (um exemplo paradigmático é a recente pandemia de COVID-19). Por outro lado, também as alterações demográficas, com o crescente envelhecimento da população e as múltiplas patologias que acarreta, representam um novo e permanente desafio.
Tênis Nike Tanjun Next Nature Masculino 45% OFF
Tamanhos disponíveis: 37,38,39,41,42,43,44. Ao abrir ou comprar uma promoção, algumas marcas poderão comissionar o Pelando, mas isso não influencia em quais promoções são postadas por aqui. Crie um alerta de desejo E avisamos quando houver promoção As melhores segundo a comunidade As mais quentes da comunidade O Pelando é uma comunidade para quem gosta de economizar.
Dentate gyrus astrocytes exhibit layer-specific molecular, morphological and physiological features - Nature Neuroscience
Abstract Neuronal heterogeneity has been established as a pillar of higher central nervous system function, but glial heterogeneity and its implications for neural circuit function are poorly understood. Here we show that the adult mouse dentate gyrus (DG) of the hippocampus is populated by molecularly distinct astrocyte subtypes that are associated with distinct DG layers. Astrocytes localized to different DG compartments also exhibit subtype-specific morphologies.
Louisiana Soybeans: Late Season Crop Damage
It is an understatement to say soybean farmers have had a challenging year in 2022. In April, farmers had to plant around several rain events. Despite the several April showers, 59% of the soybean fields in LA were planted by May 1 compared to the five-year average of 43% and 23% from last year. The timely planting season gave hope for a good crop since previous research suggests higher yield potential when soybean is planted in April. By June unfortunately, the perspective changed.
Atelier Ayesha: The Alchemist of Dusk DX
Creators: KOEI TECMO GAMES CO., LTD. Release Date: Jan 14, 2020 - Nintendo Switch, PC, PlayStation 4, PlayStation 5 Atelier Ayesha: The Alchemist of Dusk DX Media Atelier Ayesha: The Alchemist of Dusk Launch Trailer Critic Reviews for Atelier Ayesha: The Alchemist of Dusk DX Atelier Ayesha: The Alchemist of Dusk DX is a great jumping-in point for newcomers to the series.
Kotodama: The 7 Mysteries of Fujisawa Reviews
Creators: PQube Limited, Art Co. Ltd Release Date: May 31, 2019 - PlayStation 4, PC, Nintendo Switch, PlayStation 5 Kotodama: The 7 Mysteries of Fujisawa Media Kotodama: The 7 Mysteries of Fujisawa - Announcement Trailer Critic Reviews for Kotodama: The 7 Mysteries of Fujisawa Kotodama could have been a perfectly fine mystery school adventure if it didn't leave you blindly groping in the dark through repeats of repeats for a tiny morsel of fresh content.
Análise: Super Mario Odyssey
VIDEO É difícil falar sobre Super Mario Odyssey sem recorrer a comparações a jogos anteriores, ainda mais com a noção de que os movimentos de Mario nesta nova encarnação são os melhores que testemunhamos desde 1996, aquando do lançamento de Super Mario 64 na primeira consola da Nintendo feita a pensar em jogos tridimensionais.Odyssey é uma verdadeira viagem pelo mundo de Mario, em mais do que no sentido imediato da palavra.
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