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BMC genomics, ISSN 1471-2164, 2012, Volume 13, Issue Suppl 6, pp. S16 - S16
Background: Whole genome sequencing enables a high resolution view of the human genome and provides unique insights into genome structure at an unprecedented... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | Chromosome Mapping | Algorithms | Genome, Human | Sequence Analysis, DNA | Humans | DNA Copy Number Variations | Vocalization behavior | Statistical analysis | Conferences | Data processing | genomics | Genomes | Guanylate cyclase | copy number | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2011, Volume 6, Issue 12, pp. e28503 - e28503
Journal Article
The Lancet, ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 758 - 767
Journal Article
by Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2019, Volume 380, Issue 2, pp. 142 - 151
Journal Article
Modern Pathology, ISSN 0893-3952, 06/2016, Volume 29, Issue 6, pp. 570 - 581
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2017, Volume 13, Issue 11, pp. e1007104 - e1007104
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental... 
FRAMEWORK | SET | GENOME | GENETICS & HEREDITY | Genetic aspects | Diagnosis | Gene mutations | Encephalopathy | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2019, Volume 104, Issue 2, pp. 299 - 309
Different parts of a gene can be of differential importance to development and health. This regional heterogeneity is also apparent in the distribution of... 
LIMBR | conservation | pathogenic | negative selection | exons | intolerance | RVIS | domains | constraint | genic sub-region | FRAMEWORK | MISSENSE | GIBBS SAMPLER | GENETICS & HEREDITY | Genetic variation | Encephalopathy | Physiological aspects | Genetic aspects | Disease susceptibility | Research | Risk factors
Journal Article
International Journal of Cancer, ISSN 0020-7136, 02/2016, Volume 138, Issue 3, p. 747
  To best define biomarkers of response, and to shed insight on mechanism of action of certain clinically important agents for early breast cancer, we used a... 
Antimitotic agents | Chemotherapy | Bone morphogenetic proteins | Breast cancer | Antineoplastic agents | Transforming growth factors | Cancer | Biomarkers | Hypoxia | Cancer therapies | Tumors
Journal Article
2004, AD-a426 084.
The focus of this grant was to evaluate the DNA repair pathway as a new target for therapeutic intervention and to identify inhibitors of the two pathways of... 
toxicity | computer programs | functions | drugs | test and evaluation | peptides | breast cancer | inhibition | sensitizing | dna repair | chemotherapy | interactions | mammary glands | proteins | deoxyribonucleic acids | biochemistry | ku band | neoplasms | ionizing radiation
Government Document
Genetics in Medicine, ISSN 1098-3600, 2019
Variants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). However, 15% of patients who present... 
retinal dystrophy | collapsing analysis | exome sequencing | ABCA4 disease
Journal Article