Results 111 to 120 of about 227,823 (308)

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications [PDF]

, 2013
Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found
De Paepe, Anne, Vanakker, Olivier
core   +4 more sources

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Clinical impact of splicing in neurodevelopmental disorders. [PDF]

, 2020
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How, Sanders, Stephan J, Schwartz, Grace B   +2 more
core   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Circulating Tumor Cells in Multiple Myeloma: From Peripheral Clues to Central Insights

American Journal of Hematology, EarlyView.
CTC offer a minimally invasive widow into systemic myeloma biology, overcoming the sampling bias of bone marrow biopsies. Their prognostic value at diagnosis, potential role in MRD monitoring, and ability to capture clonal evolution highlight them as actionable biomarkers for future precision medicine.
Benjamin Podvin, Bruno Paiva, Irene M. Ghobrial, Salomon Manier   +3 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement [PDF]

, 2019
Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease.
Bonnen, Penelope E, Carbo, Miriam, Cerbelli, Bruna, D'Amati, Giulia, Della Monica, Paola Lilla, Falkous, Gavin, Giordano, Carla, Glasgow, Ruth I C, Hardy, Steven A, He, Langping, Morea, Veronica, Perli, Elena, Pignataro, Maria Gemma, Pisano, Annalinda, Re, Federica, Taylor, Robert W, Zacara, Elisabetta   +16 more
core   +2 more sources

Assessing the Power of Exome Chips

PLOS ONE, 2015
Genotyping chips for rare and low-frequent variants have recently gained popularity with the introduction of exome chips, but the utility of these chips remains unclear. These chips were designed using exome sequencing data from mainly American-European individuals, enriched for a narrow set of common diseases.
Page, Christian, Baranzini, Sergio E., Mevik, Bjørn-Helge, Bos, Steffan Daniel, Harbo, Hanne Flinstad, Kulle, Bettina   +5 more
openaire   +6 more sources

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source