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Articles by Gaël Nicolas
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios
Abstract The genetic architecture of sporadic Early-Onset Alzheimer Disease (sEOAD, onset ≤65 years) remains largely unknown. To assess the de novo mutation (DNM) hypothesis, we performed a nationwide recruitment of 37 novel sEOAD patients–unaffected parents trios. After assessing known monogenic genes, we performed trio-based exome sequencing and jointly analyzed novel trios with 12 previously reported ones. Of these, we selected 16 trios for genome sequencing.
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype
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Abstract The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying 15 heterozygous MAU2 variants and demonstrate pathogenicity through functional analyses. In-frame MAU2 variants predominantly impair NIPBL–MAU2 interaction, whereas truncating variants cause MAU2 haploinsufficiency and lead to NIPBL reduction.
By Ilaria Parenti, Laura Duffy, Jasmin Beygo, Jennifer Kerkhof, Elsa Leitão, Philip M. Boone, Hesham M Aldhalaan, Fowzan S. Alkuraya, Stylianos E. Antonarakis, Donald Basel, Kévin Cassinari, Amanda R. Clause, Stephan C. Collins, Parul Jayakar, Arif O. Khan, Kohji Kato, Gholson J. Lyon, Elaine Marchi, Julie McCarrier, Seiji Mizuno, Gaël Nicolas, Yosuke Nishio, Tomoo Ogi, Feliciano Ramos, Emmanuelle Ranza, Claire E. Redin, Eric Rush, Shinji Saitoh, Hanan E. Shamseldin, Susan Starling, Esteban Astiazaran-Symonds, Alma Kuechler, Bekim Sadikovic, Binnaz Yalcin, Kerstin Wendt, Frank Kaiser, Alina Hesters, Marta Gil-Salvador, Deniz Kanber, Laura Steenpaß, Julia Woestefeld, Emeline M. Kao, Muneera J. Alshammari, Laurana de Polli Cellin, Andréa de Castro Leal, Benjamin Durand, Juliane Eckhold, Mais O. Hashem, Regina Kubica, Lara K. Kimmig, Juan Pié, Jordyn Prell, Beatriz Puisac, Sara H. Eltahir
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Nature
Verified
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome
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Keywords FSD1L L1 syndrome FSD1 L1CAM congenital hydrocephalus corpus callosum commissural axon navigation microtubules primary cilium mitosis Introduction The development of the human central nervous system (CNS) is an intricate and tightly regulated process involving sequential and overlapping stages of neural proliferation, migration, differentiation, and connectivity.
By Valentina Serpieri, Maryline Lecointre, Florent Marguet, Anna Garbelli, Pascale Marcorelles, Ludovica Celli, Alice Goldenberg, Francesco Petrizzelli, François Janin, Gaël Nicolas, Noor Smal, Claudia Condoluci, Carla Marini, Frédéric Tran-Mau-Them, Valentin Ruault, Alessia Micalizzi, Silvia Bione, Tommaso Mazza, Anna Pichiecchio, Monia Ginevrino, Sarah Weckhuysen, Alice Bedois, Beatrice Desnous, Grace Rabie, Moien Kanaan, Bruno Gonzalez, Simone Sabbioneda, Annie Laquerriere, Pascale Saugier-Veber, Enza Maria Valente, Myriam Vezain-Mouchard, Alessia Orsi, Concetta Mazzotta, Roberta De Mori, Nathalie Drouot, Laurent Hermitte
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The American Journal of Human Genetics
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Machine learning in Alzheimer’s disease genetics - Nature Communications
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Abstract Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the largest European consortium on Alzheimer’s disease (AD) to investigate the effectiveness of various ML algorithms in replicating known findings, discovering novel loci, and predicting individuals at risk.
By Matthew Bracher-Smith, Céline Bellenguez, Peter A Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Victoria Alvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Jakub Hort, Jesper Qvist Thomassen, Henne Holstege, Philip Scheltens, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Gaël Nicolas, Carole Dufouil, Florence Pasquier, Stéphanie Debette, Edna Grünblatt, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Michael Wagner, Benedetta Nacmias, Fabrizio Piras, Giacomina Rossi, Patrick Kehoe, Kristel Sleegers, Martin Ingelsson, Rebecca Sims, Ole A. Andreassen, Agustín Ruiz, Alfredo M. Ramirez, Alfredo Ramírez, Ruth Frikke-Schmidt, Najaf Amin, Gennady V Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Tsolaki Magda
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Nature
Verified
Machine learning in Alzheimer’s disease genetics
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Scientists just discovered a secret code hidden in your DNA What scientists once dismissed as “junk” DNA may actually be some of the most powerful code in our genome. A new international study reveals that …
By Matthew Bracher-Smith, Federico Melograna, Brittany S. Ulm, Céline Bellenguez, Benjamin Grenier-Boley, Diane Duroux, Peter A Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Raquel Sánchez-Valle, Victoria Alvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Alexandre de Mendonça, Latchezar Traykov, Jakub Hort, Martin Vyhnálek, Nicolai Sandau, Jesper Qvist Thomassen, Henne Holstege, Inez H.G.B. Ramakers, Frans R Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Jean-Francois Deleuze, Gaël Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Michael Wagner, Benedetta Nacmias, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Fabrizio Piras, Giacomina Rossi, Frank Jessen, Patrick Kehoe, Tsolaki Magda, Pascual Sanchez-Juan, Kristel Sleegers, Martin Ingelsson, Mikko Hiltunen, Rebecca Sims, Ole A. Andreassen, Agustín Ruiz, Alfredo M. Ramirez, Alfredo Ramírez, Ruth Frikke-Schmidt, Najaf Amin, Gennady V Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Valentina Escott-Price, Alejo J. Nevado, Atahualpa Castillo, Shima Mehrabian, John van Swieten, Marco Spallazzi, Carlo Masullo
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Flipboard
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations - Nature Genetics
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Abstract A polygenic score (PGS) for Alzheimer’s disease (AD) was derived recently from data on genome-wide significant loci in European ancestry populations. We applied this PGS to populations in 17 European countries and observed a consistent association with the AD risk, age at onset and cerebrospinal fluid levels of AD biomarkers, independently of apolipoprotein E locus (APOE). This PGS was also associated with the AD risk in many other populations of diverse ancestries.
By Aude Nicolas, Richard Sherva, Yoontae Kim, Masataka Kikuchi, Itziar de Rojas, Maria Carolina Dalmasso, Xiaopu Zhou, Yann Le Guen, Maëlenn Guerchet, Céline Bellenguez, Fahri Küçükali, Claudia L. Satizabal, Bernard Fongang, Qiong Yang, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Victoria Alvarez, Han Cao, Nancy Y. Ip, Natividad Olivar, Carolina Muchnik, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Jakub Hort, Jesper Qvist Thomassen, Henne Holstege, Harro Seelaar, Philip Scheltens, Maria F. Mahecha, Vera Fominykh, Geir Selbæk, Vilmantas Giedraitis, Anne Boland, Teresa Juárez-Cedillo, Lindsay A Farrer, Ellen M. Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, Alison Goate, Badri Vardarajan, Yuk Yee Leung, Clifton L. Dalgard, Gaël Nicolas, David Wallon, Carole Dufouil, Stéphanie Debette, Edna Grünblatt, Bárbara Angel, Sergio Gloger, Paulina Orellana, Christian González-Billault, Cecilia Albala, Perminder S Sachdev, Karen A. Mather, Richard L Hauger, Victoria Merritt, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Benedetta Nacmias, Jenifer S. Yokoyama, Akinori Miyashita, Norikazu Hara, Kouichi Ozaki, Julie Williams, Philippe Amouyel, Andy Saykin, Patrick Kehoe, Cornelia van Duijn, Ruth Frikke-Schmidt, Magda Tsolaki, Tenielle Porter, Simon Laws, Kristel Sleegers, Martin Ingelsson, Sudha Seshadri, Giacomina Rossi, Rebecca Sims, Ole A. Andreassen, Carlos Cruchaga, Valentina Escott-Price, Agustín Ruiz, Kun Ho Lee, Takeshi Ikeuchi, Alfredo M. Ramirez, Alfredo Ramírez, Mark W. Logue
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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
Verified
Association of Pick's disease with the MAPT H2 haplotype
One of the main players in the pathogenesis of neurodegenerative diseases is the microtubule-associated protein tau. Tau aggregation is involved in Alzheimer's disease, in which it co-occurs with amyloid pathology, and in primary tauopathies (including frontotemporal dementia, progressive supranuclear palsy, or corticobasal degeneration), in which aggregation can occur in neurons or glial cells.
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing - Scientific Reports
Abstract While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore important for genetic counseling in clinical care. Some studies have investigated the rate of parental mosaics, but most were either limited by the sensitivity of the techniques (i.e. exome or genome sequencing), or focused on specific types of disease such as epileptic syndromes.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders - European Journal of Human Genetics
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Abstract Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities of most published episignatures have not been independently investigated yet, which is a prerequisite for an informed and rigorous use in a diagnostic setting.
By Thomas Husson, Gaël Nicolas, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Benjamin Cogné, Anne-Sophie Denommé-Pichon, Christel Depienne, Salima El Chehadeh, David Geneviève, Brigitte Gilbert-Dussardier, Gaetan Lesca, Jonathan Levy, Sophie Nambot, Mathilde Nizon, Laurent Pasquier, Amélie Piton, Marlene Rio, Massimiliano Rossi, Frédéric Tran Mau-Them, Julien Van Gils, Marie Vincent, Nicolas Chassaing, Christèle Dubourg, Alinoë Lavillaureix, Godeliève Morel, Luisa Marsili, Laurine Perrin, Pascale Saugier-Veber, Aurélien Trimouille, Gabriella Vera
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Nature
Verified
Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores - Nature Communications
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Author notes These authors contributed equally: Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen. These authors jointly supervised this work: Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz.
By Itziar de Rojas, Najada Stringa, Anna Zettergren, Rebecca Sims, Céline Bellenguez, Miguel Calero, Monica Diez-Fairen, Carmen Lage, Pablo García-González, Alba Pérez-Cordón, Alberto Benussi, Alessio Squassina, Ana Pastor Verified, Arvid Rongve, Benedetta Nacmias, Børge G Nordestgaard, Chandra A Reynolds, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Dag Aarsland, Daniel Alcolea, Daniela Galimberti, David Wallon, Edna Grünblatt, Fahri Küçükali, Florence Pasquier, Gaël Nicolas, Geir Selbæk, Henrik Zetterberg, Hilkka Soininen, Ignacio J. Álvarez, Ingvild Saltvedt, Jean-Sébastien Vidal, Johannes Kornhuber, Jonathan Haines, Juan Pineda, Kevin Morgan, Kristel Sleegers, Lindsay A Farrer, M. Arfan Ikram, Magda Tsolaki, Margaret A. Pericak-Vance, Martin Dichgans, Michael Ewers, Michael Wagner, Olivier Quenez, Paola Bossù, Peter A Holmans, Qiong Yang, Sara Hägg, Srdjan Djurovic, Valentina Escott-Price, Vilmantas Giedraitis, Xueqiu Jian, Patrick Kehoe, Pascual Sanchez-Juan, Maria Bullido, Alberto Lleó, Miguel Medina, Henne Holstege, Maria Saez, Philippe Amouyel, Julie Williams, Sudha Seshadri, Karen A. Mather, Kaj Blennow, Ole A. Andreassen, Mercè Boada, Alfredo Ramirez, Alfredo Ramírez, Jean-Charles Lambert, Rick M. Tankard, Laura Cervera-Carles, Manuel Menéndez-González, Angel Martín Montes, Annakaisa Haapasalo, Eloy Rodriguez-Rodriguez, Jasper Van Dongen, Jonathan Vogelgsang, Valentina Bessi, Jordi Pérez-Tur, Jose María García-Alberca, Luis M. Real
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Nature
Verified
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease - Nature Genetics
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Abstract Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals—16,036 AD cases and 16,522 controls.
By Henne Holstege, Marc Hulsman, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Oriol Dols-Icardo, Philippe Amouyel, Claudine Berr, Joshua C. Bis, Stéphanie Debette, Lindsay A Farrer, Maria Fernandez, María Fernández Verified, Nick Fox Verified, Daniela Galimberti, Emmanuelle Génin, Yann Le Guen, Jonathan Haines, M. Arfan Ikram, Robert Kraaij, Merel O. Mol, Kevin Morgan, Adam C. Naj, Valerio Napolioni, Florence Pasquier, Margaret A. Pericak-Vance, Rachel Raybould, Richard Redon, Steffi G. Riedel-Heller, Fernando Rivadeneira, Jonathan M Schott, Sudha Seshadri, Gianfranco Spalletta, André G. Uitterlinden, Jennifer S. Yokoyama, Alfredo Ramirez, Alfredo Ramírez, Simon Mead, Julie Williams, Gaël Nicolas, Céline Bellenguez, Olivier Quenez, Detelina Grozeva, Penny J. Norsworthy, Paola Bossù, J. Nicholas Cochran, Benedetta Nacmias, Pascual Sanchez-Juan, Resie van Spaendonk, Niccolo’ Tesi
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Nature
Verified
Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis
Uriel López-Sánchez1,2‡, Sandrine Tury1‡, Gaël Nicolas3, Miranda S.
Deciphering the Chemical Lexicon of Host-Gut Microbiota Interactions
Highlights Microbially produced metabolites serve as chemical signals between the gut microbiota and the host and regulate many tissues throughout the body, thereby influencing host physiology. Gut microbiota metabolites modulate host immune responses and inflammation, thereby influencing host health and disease. Disorders affected by gut microbial metabolites include metabolic syndrome, inflammatory bowel diseases, cancer, allergy, autoimmune diseases, and neurodegenerative diseases.
Interplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis
Uriel López-Sánchez1, Sandrine Tury2, Gaël Nicolas3, Miranda S.
Iron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia
Abstract Rapid physical growth and the onset of menstruation during adolescence can increase the risk of iron deficiency (ID) and related adverse effects. However, little is known about the risk of anemia and ID among adolescent girls in Ethiopia. Therefore, we aimed to determine the prevalence of ID, low iron stores, and anemia and characterize selected risk factors in Huruta, Arsi Zone, Oromia Region, Ethiopia.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
In the vast majority of the Alzheimer's disease (AD) cases, the disease is considered as a complex disorder with a high genetic component as part of a multifactorial determinism (for review, see [1x[1]Nicolas, G., Charbonnier, C., and Campion, D. From common to rare variants: the genetic component of Alzheimer disease. Hum Hered. 2016; 81: 129–141Crossref | PubMed | Scopus (5) | Google ScholarSee all References][1]).
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole sample of families and isolated cases, definite pathogenicity is currently established for only 77%, emphasizing the need to pursue the effort to classify variants.
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