Brownstein, Catherine A Beggs, Alan H Homer, Nils Merriman, Barry Yu, Timothy W Flannery, Katherine C DeChene, Elizabeth T Towne, Meghan C Savage, Sarah K Price, Emily N
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Published in
Genome Biology
BackgroundThere is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur conver...
Chiricotto, Mara Melchionna, Simone Derreumaux, Philippe Sterpone, Fabio
Published in
The American Journal of Human Genetics
Computer simulations based on simplified representations are routinely used to explore the early steps of amyloid aggregation. However, when protein models with implicit solvent are employed, these simulations miss the effect of solvent induced correlations on the aggregation kinetics and lifetimes of metastable states. In this work, we apply the m...
Rebilly, Jean-Noël Colasson, Benoit Bistri, Olivia Over, Diana Olivia Reinaud
Published in
The American Journal of Human Genetics
The design of biomimetic complexes for the modeling of metallo-enzyme active sites is a fruitful strategy for obtaining fundamental information and a better understanding of the molecular mechanisms at work in Nature's chemistry. The classical strategy for modeling metallo-sites relies on the synthesis of metal complexes with polydentate ligands th...
Lim, Elaine T Liu, Yangfan P Chan, Yingleong Tiinamaija, Tuomi Käräjämäki, AnnMari Madsen, Erik Altshuler, David M Raychaudhuri, Soumya Groop, Leif Flannick, Jason
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Published in
American journal of human genetics
Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based test). We found that RAFT outperforms existing app...
Loncaric, Igor Heigl, Helmut Licek, Elisabeth Moosbeckhofer, Rudolf Busse, Hans-Jürgen Rosengarten, Renate
Published in
Apidologie
Pantoea agglomerans is a possible biocontrol agent against fire blight (Erwinia amylovora) and a facultative pathogen of humans. Isolates were gathered from flowers, pollen loads, honey sacs, and freshly stored nectar (FSN). Under artificial inoculation conditions, strains completely lost their culturability at 24 °C after 120 h of incubation in ho...
Melchionda, Laura Haack, Tobias B Hardy, Steven Abbink, Truus E M Fernandez-Vizarra, Erika Lamantea, Eleonora Marchet, Silvia Morandi, Lucia Moggio, Maurizio Carrozzo, Rosalba
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Published in
American journal of human genetics
Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency. All three subjects pre...
Boone, Philip M Yuan, Bo Campbell, Ian M Scull, Jennifer C Withers, Marjorie A Baggett, Brett C Beck, Christine R Shaw, Christine J Stankiewicz, Pawel Moretti, Paolo
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Published in
American journal of human genetics
Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their origins and molecular consequences remain obscure. We mapped breakpoint juncti...
Di Gregorio, Eleonora Borroni, Barbara Giorgio, Elisa Lacerenza, Daniela Ferrero, Marta Lo Buono, Nicola Ragusa, Neftj Mancini, Cecilia Gaussen, Marion Calcia, Alessandro
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Published in
American journal of human genetics
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped SCA38 to a 56 Mb region on chromosome 6p in a SCA-affected Italian family by whole-genome linkage analysis. Targeted resequencing identified a single missense mutation (c.689G>T [p.Gly...
Han, Shizhong Yang, Bao-Zhu Kranzler, Henry R. Liu, Xiaoming Zhao, Hongyu Farrer, Lindsay A. Boerwinkle, Eric Potash, James B. Gelernter, Joel
Published in
The American Journal of Human Genetics
Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact with one another might collecti...
Almeida, Sandra Gascon, Eduardo Tran, Hélène Chou, Hsin Jung Gendron, Tania F. DeGroot, Steven Tapper, Andrew R. Sellier, Chantal Charlet-Berguerand, Nicolas Karydas, Anna
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Published in
Acta Neuropathologica
The recently identified GGGGCC repeat expansion in the noncoding region of C9ORF72 is the most common pathogenic mutation in patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). We generated a human neuronal model and investigated the pathological phenotypes of human neurons containing GGGGCC repeat expansions. Skin b...
