Results 131 to 140 of about 1,021,105 (352)

Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics

Frontiers in Genetics, 2019
There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski, ChuangKee Ong, Maurice H. T. Ling, Yang Ming Poh, Asif M. Khan, Hui San Ong   +5 more
semanticscholar   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

npj Genomic Medicine, 2017
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady   +12 more
doaj   +1 more source

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease [PDF]

, 2015
Berta Luzón‐Toro, Hongsheng Gui, Macarena Ruiz‐Ferrer, Clara Sze-Man Tang, Raquel Fernandez, Pak-Chung Sham, Ana Torroglosa, Paul Kwong‐Hang Tam, Laura Espino‐Paisán, Stacey S. Cherny, Marta Bleda, María del Valle Enguix-Riego, Joaquı́n Dopazo, Guillermo Antiñolo, María-Mercé García-Barceló, Salud Borrego   +15 more
openalex   +1 more source

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Circulation Research, 2019
Rationale: Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have been
D. Page, Matthieu J. Miossec, Simon G. Williams, Richard M Monaghan, E. Fotiou, H. Cordell, Louise Sutcliffe, A. Topf, M. Bourgey, G. Bourque, R. Eveleigh, S. Dunwoodie, D. Winlaw, S. Bhattacharya, J. Breckpot, K. Devriendt, M. Gewillig, J. Brook, Kerry Setchfield, F. Bu'Lock, J. O’Sullivan, G. Stuart, C. Bezzina, B. Mulder, A. Postma, J. Bentham, M. Baron, S. Bhaskar, G. Black, W. G. Newman, Kathryn E. Hentges, G. Lathrop, M. Santibanez-Koref, B. Keavney   +33 more
semanticscholar   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus

, 2021
Xiaowei Zhou, Weichang Guo, Hejia Yin, Jie Chen, Liju Ma, Qiuping Yang, Yan Zhao, Shaoyou Li, Weijun Liu, Huifang Li   +9 more
openalex   +2 more sources

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
Kandamurugu Manickam, M. McClain, L. Demmer, Sawona Biswas, H. Kearney, J. Malinowski, L. Massingham, Danny Miller, T. Yu, F. Hisama   +9 more
semanticscholar   +1 more source

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Journal of the American Society of Nephrology, 2019
BACKGROUND Whole-exome sequencing (WES) finds a CKD-related mutation in approximately 20% of patients presenting with CKD before 25 years of age. Although provision of a molecular diagnosis could have important implications for clinical management ...
Nina Mann, D. Braun, Kassaundra Amann, Weizhen Tan, S. Shril, Dervla M. Connaughton, M. Nakayama, Ronen Schneider, Thomas M. Kitzler, A. T. van der Ven, J. Chen, Hadas Ityel, A. Vivante, Amar J. Majmundar, Ankana Daga, Jillian K. Warejko, S. Lovric, S. Ashraf, Tilman Jobst-Schwan, E. Widmeier, Hannah Hugo, S. Mane, Leslie Spaneas, M. Somers, M. Ferguson, A. Traum, Deborah R. Stein, M. Baum, G. Daouk, R. Lifton, S. Manzi, K. Vakili, Heung Bae Kim, N. Rodig, F. Hildebrandt   +34 more
semanticscholar   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source