Results 281 to 290 of about 1,041,152 (399)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability [PDF]
, 2012 Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers +16 moreopenalex +1 more sourceUsing single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases
Human Mutation, Volume 43, Issue 12, Page 2234-2250, December 2022., 2022 Abstract
Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P. M. Cremers +15 morewiley +1 more sourceWhole exome sequencing enhances diagnosis of hereditary bronchiectasis. [PDF]
Orphanet J Rare DisZhou W, Li Y, Zheng H, He M, Zhang M, Chen Q, Situ C, Wang Y, Zhang T, Chen K, Dai J, Meng S, Liu X, Wu A, Liu Y, Xu KF, Tian X, Zhang X. +17 moreeuropepmc +1 more sourceAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes [PDF]
, 2012 Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya +20 moreopenalex +1 more sourceSPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Human Mutation, Volume 43, Issue 12, Page 2308-2323, December 2022., 2022 Abstract
Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or splicing regulatory elements.Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger +35 morewiley +1 more sourceRET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family
, 2011 Xiao-Ping Qi, Juming Ma, Zhenfang Du, Rongbiao Ying, Jun Fei, Hang-Yang Jin, Jianshan Han, Jinquan Wang, Xiaoling Chen, Chunyue Chen, Wenting Liu, Jiajun Lu, Jianguo Zhang, Xianning Zhang +13 moreopenalex +2 more sourcesExome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor [PDF]
, 2012 Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau +22 moreopenalex +1 more sourcePan‐cancer analysis shapes the understanding of cancer biology and medicine
Cancer Communications, EarlyView.Abstract
Advances in multi‐omics datasets and analytical methods have revolutionized cancer research, offering a comprehensive, pan‐cancer perspective. Pan‐cancer studies identify shared mechanisms and unique traits across different cancer types, which are reshaping diagnostic and treatment strategies.Xiaoping Cen, Yuanyuan Lan, Jiansheng Zou, Ruilin Chen, Can Hu, Yahan Tong, Chen Zhang, Jingyue Chen, Yuanmei Wang, Run Zhou, Weiwei He, Tianyu Lu, Fred Dubee, Dragomirka Jovic, Wei Dong, Qingqing Gao, Man Ma, Youyong Lu, Yu Xue, Xiangdong Cheng, Yixue Li, Huanming Yang +21 morewiley +1 more sourceVariantAlert: A web‐based tool to notify updates in genetic variant annotations
Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022 Abstract
The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva +3 morewiley +1 more source
