Ohcanbohtosat - Massimiliano Rossi

Aiddostahte ozu
  1. 1
    SPUMONI 2: improved classification using a pangenome index of minimizer digests

    SPUMONI 2: improved classification using a pangenome index of minimizer digests Dahkki Omar Ahmed, Massimiliano Rossi, Travis Gagie, Christina Boucher, Ben Langmead

    Almmustuhtton 2023
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  2. 2
    MONI: A Pangenomic Index for Finding Maximal Exact Matches

    MONI: A Pangenomic Index for Finding Maximal Exact Matches Dahkki Massimiliano Rossi, Marco Antônio Oliva, Ben Langmead, Travis Gagie, Christina Boucher

    Almmustuhtton 2022
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  3. 3
    Environmental predictors of West Nile fever risk in Europe

    Environmental predictors of West Nile fever risk in Europe Dahkki Annelise Tran, Bertrand Súdre, Shlomit Paz, Massimiliano Rossi, Annie Desbrosse, Véronique Chevalier, Jan C. Semenza

    Almmustuhtton 2014
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  4. 4
    Flavonoids: A Myth or a Reality for Cancer Therapy?

    Flavonoids: A Myth or a Reality for Cancer Therapy? Dahkki Cinzia Forni, Massimiliano Rossi, Ilaria Borromeo, Giordana Feriotto, Giovambattista Platamone, Claudio Tabolacci, Carlo Mischiati, Simone Beninati

    Almmustuhtton 2021
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  5. 5
    International Dispersal of Dengue through Air Travel: Importation Risk for Europe

    International Dispersal of Dengue through Air Travel: Importation Risk for Europe Dahkki Jan C. Semenza, Bertrand Súdre, Jennifer Miniota, Massimiliano Rossi, Wei Hu, David Kossowsky, Jonathan E. Suk, Wim Van Bortel, Kamran Khan

    Almmustuhtton 2014
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  6. 6
    Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase

    Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase Dahkki Nicola Brunetti‐Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria, Giancarlo Parenti

    Almmustuhtton 2002
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  7. 7
    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease

    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease Dahkki Giancarlo Parenti, A Zuppaldi, María Gabriela Pittis, Maria Rosaria Tuzzi, Ida Annunziata, Germana Meroni, Caterina Porto, Francesca Donaudy, Barbara Rossi, Massimiliano Rossi, Mirella Filocamo, Alice Donati, Bruno Bembi, Andrea Ballabio, Generoso Andria

    Almmustuhtton 2007
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  8. 8
    Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms

    Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms Dahkki Sairam Behera, Severine Catreux, Massimiliano Rossi, Sean Truong, Zhuoyi Huang, Michael Ruehle, Arun Visvanath, Gavin Parnaby, Cooper Roddey, Vitor Onuchic, Daniel Cameron, Adam C. English, Shyamal Mehtalia, James Han, Rami Mehio, Fritz J. Sedlazeck

    Almmustuhtton 2024
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  9. 9
    Comprehensive genome analysis and variant detection at scale using DRAGEN

    Comprehensive genome analysis and variant detection at scale using DRAGEN Dahkki Sairam Behera, Severine Catreux, Massimiliano Rossi, Sean Truong, Zhuoyi Huang, Michael Ruehle, Arun Visvanath, Gavin Parnaby, Cooper Roddey, Vitor Onuchic, Andrea Finocchio, Daniel Cameron, Adam C. English, Shyamal Mehtalia, James Han, Rami Mehio, Fritz J. Sedlazeck

    Almmustuhtton 2024
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  10. 10
    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... Dahkki Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    Almmustuhtton 2014
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  11. 11
    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Dahkki Nicolas Chassaing, Erica E. Davis, Kelly McKnight, Adrienne R. Niederriter, Alexandre Causse, Véronique David, Annaïck Desmaison, Sophie Lamarre, Catherine Vincent‐Delorme, Laurent Pasquier, Christine Coubes, Didier Lacombe, Massimiliano Rossi, Jean‐Louis Dufier, Hélène Dollfus, Josseline Kaplan, Nicholas Katsanis, Heather Etchevers, Stanislas Faguer, Patrick Calvas

    Almmustuhtton 2016
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  12. 12
    Treatment Responsiveness in KCNT1-Related Epilepsy

    Treatment Responsiveness in KCNT1-Related Epilepsy Dahkki Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffen Syrbe, Nienke E. Verbeek, Hannah Stamberger, Sarah Weckhuysen, Berten Ceulemans, An-Sofie Schoonjans, Massimiliano Rossi, Geneviève Demarquay, Gaëtan Lesca, Kern Olofsson, David A. Koolen, Frauke Hornemann, Stéphanie Baulac, Guido Rubboli, Kelly Q. Minks, Bo Hoon Lee, Ingo Helbig, Dennis Dlugos, Rikke S. Møller, David Bearden

    Almmustuhtton 2019
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  13. 13
    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies Dahkki Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valérie Cormier‐Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos‐Simarro, Jean‐Pierre Salles, Marc Nicolino, Massimiliano Rossi, Pekka Kannus, Michael B. Bober, John A. Phillips, Howard M. Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover‐Fong, Melita Irving

    Almmustuhtton 2022
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  14. 14
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature Dahkki Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Almmustuhtton 2013
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  15. 15
    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome Dahkki Angélique Quartier, Hélène Poquet, Brigitte Gilbert‐Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thévenon, Anne‐Laure Mosca‐Boidron, Patrick Callier, Jean Muller, Gaëtan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoît Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean‐Louis Mandel, Laurence Faivre, Amélie Piton

    Almmustuhtton 2017
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  16. 16
    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity Dahkki Eric D. Boyden, Belinda Campos‐Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H. Cohn, H. Rosemarie Davidson, Christine M Hall, Shiro Ikegawa, Pierre‐Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S. Lachman, Geert Mortier, David L. Rimoin, R. Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard H. Scott, Sheila Unger, Eugênia Ribeiro Valadares, John F. Bateman, Matthew L. Warman, Andrea Superti‐Furga, Luisa Bonafé

    Almmustuhtton 2011
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  17. 17
    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome Dahkki Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin D. Clark, Helen Cox, Patrick Edery, Thomas Édouard, Virginia Fano, Kate Gibson, Gabriele Gillessen‐Kaesbach, M. L. Giovannucci-Uzielli, Luitgard Graul‐Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Dain Gandelman Horovitz, Judith Melki, Carl‐Joachim Partsch, H Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen‐Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Münnich, Valérie Cormier‐Daire

    Almmustuhtton 2008
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  18. 18
    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome Dahkki Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier

    Almmustuhtton 2017
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  19. 19
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update Dahkki Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Almmustuhtton 2017
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  20. 20
    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum Dahkki Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli

    Almmustuhtton 2021
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