Results 191 to 200 of about 24,446 (224)

VariantAlert: 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 more
wiley   +1 more source

RET 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 more
openalex   +2 more sources

Somatic mutations reveal complex metastatic seeding from multifocal primary prostate cancer

International Journal of Cancer, Volume 152, Issue 5, Page 945-951, 1 March 2023., 2023
What's new? Intrapatient tumor heterogeneity and clonal evolution of primary tumor foci into metastatic disease remain significant challenges for prostate cancer treatment. Here, investigating metastatic lesion origins, the authors compared somatic mutations in spatially distinct primary foci to mutations in recurring disease in seven prostate cancer ...
Kristina T. Carm, Bjarne Johannessen, Mari Bogaard, Anne Cathrine Bakken, Aase V. Maltau, Andreas M. Hoff, Ulrika Axcrona, Karol Axcrona, Ragnhild A. Lothe, Rolf I. Skotheim   +9 more
wiley   +1 more source

ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations

Clinical Pharmacology &Therapeutics, EarlyView.
The ESR1 gene is relevant in breast cancer treatments in the pharmacogenetics context. However, Native, African, and mixed populations are known to be underrepresented in genomic studies. This is particularly important given that the difference in variants' frequencies among different populations can lead to population‐specific clinical implications ...
Mariana M. Scudeler, Caíque Manóchio, Bruno Miwa, Guilherme Belfort‐Almeida, Lucas Faria‐Costa, Cesar Sanchez, Carlos Padilla, Omar Caceres, Eduardo Tarazona‐Santos, Heinner Guio, Timothy D. O'Connor, Fernanda Rodrigues‐Soares   +11 more
wiley   +1 more source

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA [PDF]

, 2012
Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash P. Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick   +32 more
openalex   +1 more source

Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test

Clinical Pharmacology &Therapeutics, EarlyView.
There is increasing attention on the clinical utility and value of pharmacogenetic (PGx) testing to individualize medication management. Most clinical practice guidelines from medical professional societies do not recommend routine PGx testing, with a few key exceptions.
James M. Stevenson, D. Max Smith, Sony Tuteja, Jai N. Patel, on behalf of the Pharmacogenomics Global Research Network (PGRN) Publications Committee   +4 more
wiley   +1 more source

Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor β chain and KIT V654A

, 2011
Mona S. Spector, Ivan Iossifov, Athena Kritharis, Chao‐Jie He, Jonathan E. Kolitz, S. W. Lowe, Steven L. Allen   +6 more
openalex   +1 more source

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing [PDF]

, 2012
Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch   +27 more
openalex   +1 more source

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 more
openalex   +1 more source

Autozygome-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 more
openalex   +1 more source