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  5. Nillesen, Willy M.; Yntema, Helger G.; Moscarda, Marco; Verbeek, Nienke E.; Wilson, Louise C.; Cowan, Frances; Schepens, Marga; Raas-Rothschild, Annick; Gafni-Weinstein, Orly; Zollino, Marcella; Vijzelaar, Raymon; Neri, Giovanni; Nelen, Marcel; Bokhoven, Hans van; Giltay, Jacques; Kleefstra, Tjitske

    Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

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    Hindawi Limited, 2011

    Published in: Human Mutation

  6. Ferreira, Glaucia Maria Lima; Portela, Ylana Mara Santiago Galdino; Lopes, Natalia Arruda da Ponte; Rola, Cristiana Ferreira; Filh, Joao Lino dos Santos; Aguiar, Lia Cordeiro Bastos; Benevides, Ana Maria Luna Neri; Silva, Francisco José Cândido da; Rodrigues, Marllan Louise Matos; Medeiros, Melissa Soares

    FORMAS DE APRESENTAÇÕES CLÍNICAS GRAVES ASSOCIADAS A COVID‐19 EM POPULAÇÃO PEDIÁTRICA

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    Elsevier BV, 2021

    Published in: The Brazilian Journal of Infectious Diseases

  7. Aquino, Bruno Pinheiro; Mesquita, Rafael Ferreira; Aguiar, Lia Cordeiro Bastos; Benevides, Ana Maria Luna Neri; Moreira, Ana Livia Gomes; Rodrigues, Marllan Louise Matos; Santos, Andrielly Pereira de Sousa; Matos, Francisco Breno Ponte de; Ponte, Nina Brunet Saraiva Rodrigues; Medeiros, Melissa Soares

    IMPACTO DA MORTALIDADE POR COVID‐19 EM HOSPITAL DE ALTA COMPLEXIDADE CONSIDERANDO EPIDEMIOLOGIA E DEFINIÇÃO DE DIAGNÓSTICO NA EMERGÊNCIA

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    Elsevier BV, 2021

    Published in: The Brazilian Journal of Infectious Diseases

  8. Neri, Lidianne R; Torreão, Jorge A; Porto, Louise M; Gonçalves, Beatriz MM; Andrade, Alisson L; Pereira, Camila B; Garcia, Karina O; Catto, Marília B; Muinos, Pedro JR; Maia, Renata M; Silva, Thiago C; Jesus, Pedro AP; Rocha-Filho, José A; Oliveira-Filho, Jamary

    Factors associated with abnormal cardiac magnetic resonance imaging in embolic stroke of undetermined source

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    SAGE Publications, 2019

    Published in: International Journal of Stroke

  9. Wein, Nicolas; Vulin, Adeline; Falzarano, Maria S; Szigyarto, Christina Al-Khalili; Maiti, Baijayanta; Findlay, Andrew; Heller, Kristin N; Uhlén, Mathias; Bakthavachalu, Baskar; Messina, Sonia; Vita, Giuseppe; Passarelli, Chiara; Brioschi, Simona; Bovolenta, Matteo; Neri, Marcella; Gualandi, Francesca; Wilton, Steve D; Rodino-Klapac, Louise R; Yang, Lin; Dunn, Diane M; Schoenberg, Daniel R; Weiss, Robert B; Howard, Michael T; Ferlini, Alessandra;

    Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

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    Springer Science and Business Media LLC, 2015

    Published in: Nature Medicine

  10. Tourette, C.; Farina, F.; Vazquez-Manrique, R.; Orfila, A.; Voisin, J.; Hernandez, S.; Offner, N.; Parker, J.; Menet, S.; Kim, J.; Lyu, J.; Choi, S.; Cormier, K.; Edgerly, C.; Bordiuk, O.; Smith, K.; Louise, A.; Halford, M.; Stacker, S.; Vert, J.; Ferrante, R.; Lu, W.; Neri, C.

    B19 The Wnt Receptor Ryk Reduces Neuronal Resistance Capacity By Repressing Foxo Activity During The Early Phases Of Huntingtin Pathogenicity

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    BMJ, 2014

    Published in: Journal of Neurology, Neurosurgery & Psychiatry

  11. Dornelles, Alícia Dorneles; Pinto, Louise Lapagesse de Camargo; Paula, Ana Carolina de; Steiner, Carlos Eduardo; Lourenço, Charles Marques; Kim, Chong Ae; Horovitz, Dafne Dain Gandelman; Ribeiro, Erlane Marques; Valadares, Eugênia Ribeiro; Goulart, Isabela; Souza, Isabel C. Neves de; Neri, João Ivanildo da Costa; Santana-da-Silva, Luiz Carlos; Silva, Luiz Roberto; Ribeiro, Márcia; Oliveira Sobrinho, Ruy Pires de; Giuglianiand, Roberto; Schwartz, Ida Vanessa Doederlein

    Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

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    FapUNIFESP (SciELO), 2014

    Published in: Genetics and Molecular Biology

  12. Wein, Nicolas; Vulin, Adeline; Falzarano, Maria S; Szigyarto, Christina Al-Khalili; Maiti, Baijayanta; Findlay, Andrew; Heller, Kristin N; Uhlén, Mathias; Bakthavachalu, Baskar; Messina, Sonia; Vita, Giuseppe; Passarelli, Chiara; Passarelli, Simona; Bovolenta, Matteo; Neri, Marcella; Gualandi, Francesca; Wilton, Steve D; Rodino-Klapac, Louise R; Yang, Lin; Dunn, Diane M; Schoenberg, Daniel R; Weiss, Robert B; Howard, Michael T; Ferlini, Alessandra;

    Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

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    Springer Science and Business Media LLC, 2014

    Published in: Nature Medicine

  13. Tourette, Cendrine; Farina, Francesca; Vazquez-Manrique, Rafael P.; Orfila, Anne-Marie; Voisin, Jessica; Hernandez, Sonia; Offner, Nicolas; Parker, J. Alex; Menet, Sophie; Kim, Jinho; Lyu, Jungmok; Choi, Si Ho; Cormier, Kerry; Edgerly, Christina K.; Bordiuk, Olivia L.; Smith, Karen; Louise, Anne; Halford, Michael; Stacker, Steven; Vert, Jean-Philippe; Ferrante, Robert J.; Lu, Wange; Neri, Christian

    The Wnt Receptor Ryk Reduces Neuronal and Cell Survival Capacity by Repressing FOXO Activity During the Early Phases of Mutant Huntingtin Pathogenicity

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    Public Library of Science (PLoS), 2014

    Published in: PLoS Biology

  14. Klammt, Jürgen; Kobelt, Louise; Aktas, Dilek; Durak, Ismet; Gokbuget, Aslan; Hughes, Quintin; Irkec, Murat; Kurtulus, Idil; Lapi, Elisabetta; Mechoulam, Hadas; Mendoza-Londono, Roberto; Palumbo, Joseph; Steitzer, Hansjörg; Tabbara, Khalid; Ozbek, Zeynep; Pucci, Neri; Sotomayor, Talia; Sturm, Marian; Drogies, Tim; Ziegler, Maike; Schuster, Volker

    Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity

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    Georg Thieme Verlag KG, 2011

    Published in: Thrombosis and Haemostasis

  15. Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cavé, Hélène; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C.M.; Wilson, Louise C.; Gillessen‐Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yoichi

    Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

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    Wiley, 2007

    Published in: American Journal of Medical Genetics Part A

  16. Niihori, Tetsuya; Aoki, Yoko; Narumi, Yoko; Neri, Giovanni; Cavé, Hélène; Verloes, Alain; Okamoto, Nobuhiko; Hennekam, Raoul C M; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Kavamura, Maria Ines; Kurosawa, Kenji; Ohashi, Hirofumi; Wilson, Louise; Heron, Delphine; Bonneau, Dominique; Corona, Giuseppina; Kaname, Tadashi; Naritomi, Kenji; Baumann, Clarisse; Matsumoto, Naomichi; Kato, Kumi; Kure, Shigeo; Matsubara, Yoichi

    Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

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    Springer Science and Business Media LLC, 2006

    Published in: Nature Genetics

  17. Holden, Jeanette J.A.; Percy, Maire; Allingham-Hawkins, Diane; Brown, W. Ted; Chiurazzi, Pietro; Fisch, Gene; Gane, Louise; Gunter, Chris; Hagerman, Randi; Jenkins, Edmund C.; Kooy, R. Frank; Lubs, Herbert A.; Murray, Anna; Neri, Giovanni; Schwartz, Charles; Tranebjaerg, Lisbeth; Villard, Laurent; Willems, Patrick J.

    Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997

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    Wiley, 1999

    Published in: American Journal of Medical Genetics

  18. Parravicini, Carlo; Lauri, Eleonora; Baldini, Luca; Neri, Antonino; Poli, Francesca; Sirchia, Girolamo; Moroni, Mauro; Galli, Massimo; Corbellino, Mario; Masood, Rizwan; Zheng, Tong; Tulpule, Anil; Arora, Naveen; Chatlynne, Louise; Handy, Michael; Whitman, James; Kaplan, Mark; Dosik, Michael; Ablashi, Dharam V.; Gill, Parkash S.; Whitby, Denise; Boshoff, Chris; Luppi, Mario; Torelli, Giuseppe; [...]

    Kaposi's Sarcoma-Associated Herpesvirus Infection and Multiple Myeloma

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    American Society for the Advancement of Science, 1997

    Published in: Science

  19. Henström, Maria; Diekmann, Lena; Bonfiglio, Ferdinando; Hadizadeh, Fatemeh; Kuech, Eva-Maria; von Köckritz-Blickwede, Maren; Thingholm, Louise B; Zheng, Tenghao; Assadi, Ghazaleh; Dierks, Claudia; Heine, Martin; Philipp, Ute; Distl, Ottmar; Money, Mary E; Belheouane, Meriem; Heinsen, Femke-Anouska; Rafter, Joseph; Nardone, Gerardo; Cuomo, Rosario; Usai-Satta, Paolo; Galeazzi, Francesca; Neri, Matteo; Walter, Susanna; Simrén, Magnus; [...]

    Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

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    BMJ, 2018

    Published in: Gut

  20. Johnston, Jennifer J.; Olivos-Glander, Isabelle; Killoran, Christina; Elson, Emma; Turner, Joyce T.; Peters, Kathryn F.; Abbott, Margaret H.; Aughton, David J.; Aylsworth, Arthur S.; Bamshad, Michael J.; Booth, Carol; Curry, Cynthia J.; David, Albert; Dinulos, Mary Beth; Flannery, David B.; Fox, Michelle A.; Graham, John M.; Grange, Dorothy K.; Guttmacher, Alan E.; Hannibal, Mark C.; Henn, Wolfram; Hennekam, RaoulC.M.; Holmes, Lewis B.; Hoyme, H. Eugene; [...]

    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

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    Elsevier BV, 2005

    Published in: The American Journal of Human Genetics