Results 161 to 170 of about 174,007 (375)

The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants

Epilepsia Open, EarlyView.
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Lorenzo Muccioli, Francesca Bisulli, Raffaella Minardi, Maria Lucia Valentino, Micaela De Simone, Rodrigo Almeida Paroni, Edward Cesnik, Elisa Fallica, Luigi Bonan, Eleonora Pizzi, DEFEAT‐LD Study Group, Cosimo Altomare, Massimo Carella, Cinzia Costa, Giuseppe Damante, Lidia Di Vito, Giuseppe d’Orsi, Nicola Gambacorta, Paola Imbrici, Valentina Imperatore, Antonella Liantonio, Laura Licchetta, Raffaele Lodi, Paola Mantuano, Orazio Palumbo, Elena Pasini, Paolo Prontera, Luca Vignatelli, Gaetano Cantalupo, Laura Licchetta   +29 more
wiley   +1 more source

Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches

Scientific Reports
A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increasingly used in ...
Ankit M. Arni, Diane P. Fraser, Seth A. Sharp, Richard A. Oram, Matthew B. Johnson, Michael N. Weedon, Kashyap A. Patel   +6 more
doaj   +1 more source

A framework for human microbiome research. [PDF]

, 2012
A variety of microbial communities and their genes (the microbiome) exist throughout the human body, with fundamental roles in human health and disease. The National Institutes of Health (NIH)-funded Human Microbiome Project Consortium has established a ...
Human Microbiome Project Consortium
core  

WEHRMACHTGEFÄNGNIS (WG) GLATZ

, 2022
Three separate “fortress prisons” existed in the eighteenth-century fortress in Glatz (map 4e) (today Kłodzko, Poland) in the period before World War II.1 On January 10, 1938, the fortress prison was closed to new arrivals, and, in its place, WG Glatz was established.
openaire   +1 more source

The Northern Arizona SNP Pipeline (NASP): accurate, flexible, and rapid identification of SNPs in WGS datasets [PDF]

, 2016
Jason W. Sahl, Darrin Lemmer, Jason Travis, James M. Schupp, John D. Gillece, Maliha Aziz, Elizabeth M. Driebe, Kevin P. Drees, Nathan Hicks, Charles H. D. Williamson, Crystal M. Hepp, David Smith, Chandler C. Roe, David M. Engelthaler, David M. Wagner, Paul Keim   +15 more
openalex   +1 more source

Global Stress Responses Identify the Functionally Divergent Regulators Required for Candida auris Commensalism and Pathogenicity

Exploration, EarlyView.
Candida auris is an emerging multidrug‐resistant fungal pathogen that poses a serious global health threat. In our study, we comprehensively delineate both the pan‐genomic and transcriptomic features of C. auris. Intriguingly, our findings reveal an unexpected alkaline pH‐dependent regulation required for C. auris virulence and commensalism mediated by
Chaoyue Xu, Wanxing Xu, Yushun Yuan, Xiaoqing Chen, Ouyang Mo, Zhe Yin, Xinhua Huang, Yuanyuan Wang, Lingfei Hu, Wenwen Xue, Yun Zou, Luyao Zhang, Kunlin Li, Yueru Tian, Jihong Liu, Sichu Xiong, Lei Wu, Yanmei Dong, Guangsheng Chen, Yuping Zhang, Zili Zhou, Ming Guan, Xiaotian Huang, Zhiyi He, Lin Zhong, Lingbing Zeng, Pei Hao, Xiaoqi Zheng, Changbin Chen, Ning‐Ning Liu, Dongsheng Zhou   +30 more
wiley   +1 more source

Is Boiling Bitter Greens a Legacy of Ancient Crete? Contemporary Foraging in the Minoan Refugium of the Lasithi Plateau

Foods
Wild greens (WGs) play a significant role in Mediterranean diets (MDs), reflecting botanical and cultural diversities, mainly influenced by a complex conglomerate of local human ecologies.
Mousaab Alrhmoun, Naji Sulaiman, Shiekh Marifatul Haq, Syed Abidullah, Julia Prakofjewa, Nikos Krigas, Andrea Pieroni, Renata Sõukand   +7 more
doaj   +1 more source

Test development, optimization and validation of a WGS pipeline for genetic disorders [PDF]

, 2023
Ziying Yang, Xu Yang, Yan Sun, Yaoshen Wang, Lijie Song, Zhihong Qiao, Zhonghai Fang, Zhonghua Wang, Lipei Liu, Yunmei Chen, Saiying Yan, Xueqin Guo, Junqing Zhang, Chunna Fan, Fengxia Liu, Zhiyu Peng, Huanhuan Peng, Junwei Sun, Wei Chen   +18 more
openalex   +1 more source

Comparing Functional Outcomes Following TORS With Free Flap Reconstruction Using a Radial Forearm vs. Anterolateral Thigh Flap

Head &Neck, EarlyView.
ABSTRACT Background Free flap reconstruction (FFR) following transoral robotic surgery (TORS) is commonly performed using radial forearm free flaps (RFFF). This study compares patterns of functional recovery between RFFFs and anterolateral thigh flaps (ALTFs).
Praneet Kaki, Doreen Lam, Neel R. Sangal, Ryan M. Carey, Karthik Rajasekaran, Ara Chalian, Robert M. Brody, Gregory S. Weinstein, Steven B. Cannady   +8 more
wiley   +1 more source

A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit

npj Digital Medicine
The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal ...
Edwin F. Juarez, Bennet Peterson, Erica Sanford Kobayashi, Sheldon Gilmer, Laura E. Tobin, Brandan Schultz, Jerica Lenberg, Jeanne Carroll, Shiyu Bai-Tong, Nathaly M. Sweeney, Curtis Beebe, Lawrence Stewart, Lauren Olsen, Julie Reinke, Elizabeth A. Kiernan, Rebecca Reimers, Kristen Wigby, Chris Tackaberry, Mark Yandell, Charlotte Hobbs, Matthew N. Bainbridge   +20 more
doaj   +1 more source