Search Results - "MÄNNIK, Katrin"

Copy Number Variations and Cognitive Phenotypes in Unselected Populations by Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre

“…IMPORTANCE: The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such…”
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition by Hippolyte, Loyse, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P, Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S, Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien

“…AbstractBackgroundDeletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum…”
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P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition by Pizzo, Lucilla, Lewis, Zoe, Walsh, Lauren, Runke, Cassandra, Nõukas, Margit, Männik, Katrin, Tõnisson, Neeme, Thorland, Erik, Martin, Christa, Rudd, Katie, Andersen, Erica

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Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity by Walters, Robin G, Coin, Lachlan J M, Ruokonen, Aimo, de Smith, Adam J, El-Sayed Moustafa, Julia S, Jacquemont, Sebastien, Elliott, Paul, Esko, Tõnu, Hartikainen, Anna-Liisa, Laitinen, Jaana, Männik, Katrin, Martinet, Danielle, Meyre, David, Nauck, Matthias, Schurmann, Claudia, Sladek, Rob, Thorleifsson, Gudmar, Thorsteinsdóttir, Unnur, Valsesia, Armand, Waeber, Gerard, Zufferey, Flore, Balkau, Beverley, Pattou, François, Metspalu, Andres, Völzke, Henry, Vollenweider, Peter, Stefansson, Kári, Järvelin, Marjo-Riitta, Beckmann, Jacques S, Froguel, Philippe, Blakemore, Alexandra I F

“…The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to…”
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants by Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh

“…Purpose To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare…”
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The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals by Giannuzzi, Giuliana, Schmidt, Paul J., Porcu, Eleonora, Willemin, Gilles, Munson, Katherine M., Nuttle, Xander, Earl, Rachel, Chrast, Jacqueline, Hoekzema, Kendra, Risso, Davide, Männik, Katrin, De Nittis, Pasquelena, Baratz, Ethan D., Herault, Yann, Gao, Xiang, Philpott, Caroline C., Bernier, Raphael A., Kutalik, Zoltan, Fleming, Mark D., Eichler, Evan E., Reymond, Alexandre

“…Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4–BP5 copy-number variations, which are among the most common genetic…”
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Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains by Vanmarsenille, Lieselot, Giannandrea, Maila, Fieremans, Nathalie, Verbeeck, Jelle, Belet, Stefanie, Raynaud, Martine, Vogels, Annick, Männik, Katrin, Õunap, Katrin, Jacqueline, Vigneron, Briault, Sylvain, Van Esch, Hilde, D'Adamo, Patrizia, Froyen, Guy

“…ABSTRACT Copy number gains at Xq28 are a frequent cause of X‐linked intellectual disability (XLID). Here, we report on a recurrent 0.5 Mb tandem copy number…”
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome by Van der Aa, Nathalie, Rooms, Liesbeth, Vandeweyer, Geert, van den Ende, Jenneke, Reyniers, Edwin, Fichera, Marco, Romano, Corrado, Delle Chiaie, Barbara, Mortier, Geert, Menten, Björn, Destrée, Anne, Maystadt, Isabelle, Männik, Katrin, Kurg, Ants, Reimand, Tiia, McMullan, Dom, Oley, Christine, Brueton, Louise, Bongers, Ernie M.H.F, van Bon, Bregje W.M, Pfund, Rolph, Jacquemont, Sebastien, Ferrarini, Alessandra, Martinet, Danielle, Schrander-Stumpel, Connie, Stegmann, Alexander P.A, Frints, Suzanna G.M, de Vries, Bert B.A, Ceulemans, Berten, Kooy, R. Frank

“…Abstract Interstitial deletions of 7q11.23 cause Williams–Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype…”
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Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts by Giannuzzi, Giuliana, Chatron, Nicolas, Mannik, Katrin, Auwerx, Chiara, Pradervand, Sylvain, Willemin, Gilles, Hoekzema, Kendra, Nuttle, Xander, Chrast, Jacqueline, Sadler, Marie C., Porcu, Eleonora, Herault, Yann, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Eichler, Evan E., Kutalik, Zoltan, Reymond, Alexandre

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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts by Giannuzzi, Giuliana, Chatron, Nicolas, Mannik, Katrin, Auwerx, Chiara, Pradervand, Sylvain, Willemin, Gilles, Hoekzema, Kendra, Nuttle, Xander, Chrast, Jacqueline, Sadler, Marie C., Porcu, Eleonora, Herault, Yann, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Eichler, Evan E., Kutalik, Zoltan, Reymond, Alexandre

“…Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and…”
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities by D'Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J R A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne B M, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

“…The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities…”
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders by Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien

“…The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related…”
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology by Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C, Harewood, Louise, Kosmicki, Jack A, Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M, Alfaiz, Ali Abdullah, van Haelst, Mieke M, Andrieux, Joris, Gusella, James F, Daly, Mark J, Beckmann, Jacques S, Jacquemont, Sébastien, Talkowski, Michael E, Katsanis, Nicholas, Reymond, Alexandre

“…The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent…”
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5.9 Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss by Puusepp, Helen, Zilina, Olga, Teek, Rita, Männik, Katrin, Parkel, Sven, Kruustük, Katrin, Kuuse, Kati, Kurg, Ants, Õunap, Katrin

“…Abstract Only eight cases involving deletions of chromosome 17 in the region q22–q24 have been reported previously. We describe an additional case, a…”
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Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization by PATSALIS, Philippos C, KOUSOULIDOU, Ludmila, KURG, Ants, MÄNNIK, Katrin, SISMANI, Carolina, ZILINA, Olga, PARKEL, Sven, PUUSEPP, Helen, TONISSON, Neeme, PALTA, Priit, REMM, Maido

“…Array-based genome-wide screening methods were recently introduced to clinical practice in order to detect small genomic imbalances that may cause severe…”
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Application of two different microarray-based copy-number detection methodologies--array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization--with identical amplifiable target sequences by Kousoulidou, Ludmila, Männik, Katrin, Zilina, Olga, Parkel, Sven, Palta, Priit, Remm, Maido, Kurg, Ants, Patsalis, Philippos C

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Copy Number Variations and Cognitive Phenotypes in Unselected Populations by Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre

“…ABSTRACTIn the human genome, genetic sequences that differ in the numbers of copies, or so-called copy number variations (CNVs), can be associated with…”
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A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia by Männik, Katrin, Parkel, Sven, Palta, Priit, Žilina, Olga, Puusepp, Helen, Esko, Tõnu, Mägi, Reedik, Nõukas, Margit, Veidenberg, Andres, Nelis, Mari, Metspalu, Andres, Remm, Maido, Õunap, Katrin, Kurg, Ants

“…Abstract The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of…”
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Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes by Patsalis, Philippos C, Kousoulidou, Ludmila, Männik, Katrin, Sismani, Carolina, ilina, Olga, Parkel, Sven, Puusepp, Helen, Tõnisson, Neeme, Palta, Priit, Remm, Maido, Kurg, Ants

“…High-throughput genome-wide screening methods to detect subtle genomic imbalances are extremely important for diagnostic genetics and genomics. Here, we…”
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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes by Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A

“…Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of…”
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