Results 111 to 120 of about 183,311 (355)

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]

, 2015
BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar, Ali, Nadir, Ambalavanan, Amirthagowri, Amin-ud-Din, Muhammad, Ansar, Muhammad, Ayaz, Muhammad, Ayub, Muhammad, Brohi, Muhammad Qasim, Caron, Chantal, Christian, Mehtab, Egger, Gerald, Fennell, Alanna, Forgeot d'Arc, Baudouin, Johnson, Amelie, Khan, Falak Sher, Laurent, Sandra, Leblond, Claire S, Mahmood, Huda, Mottron, Laurent, Nanjiani, Zohair, Rafiq, Muhammad Arshad, Rasheed, Saima, Saqib, Muhammad Arif Nadeem, Shaheen, Naseema, So, Joyce, Spiegelman, Dan, Vincent, Akshita K, Vincent, John B, Waqas, Ahmed, Xiong, Lan   +29 more
core   +2 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

Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care

LaboratoriumsMedizin, 2014
Abstract Next generation sequencing (NGS, also called Massively Parallel Sequencing) can be performed using a number of different platforms. The general process is very similar across them all: (1) extracted DNA is sheared into fragments (which, in targeted methods can be captured using probes); (2) these fragments are isolated ...
Hanns-Georg Klein, Peter Bauer, Tina Hambuch   +2 more
openaire   +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

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

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

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: Case report and literature review

, 2023
Wei Zhang
openalex   +1 more source

Whole Exome Sequencing [PDF]

Obstetrics and Gynecology Clinics of North America, 2018
Angie C. Jelin, Neeta Vora
openaire   +1 more source

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

Evaluation of potential of targeted sequencing through mutational signature simulation.

PLoS ONE
BackgroundTargeted sequencing is critical in cancer diagnosis, treatment selection, and monitoring. However, the effectiveness of these methods for reflecting whole-exome sequencing (WES)-level mutational signatures remains unclear.
Keisuke Kodama, Yiwei Ling, Hiroshi Ichikawa, Toshifumi Wakai, Shujiro Okuda   +4 more
doaj   +1 more source