Results 61 to 70 of about 178,874 (205)

On Explaining Mendelian Phenomena [PDF]

Science, 1919
n ...
openaire   +2 more sources

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology
Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper   +29 more
doaj   +1 more source

A Mendelian Character in Cattle [PDF]

Science, 1906
n ...
openaire   +2 more sources

IDENTIFYING CAUSAL GENETIC VARIANTS IN PSYCHIATRIC DISORDERS USING SUMMARY DATA BASED MENDELIAN RANDOMIZATION

, 2019
IDENTIFYING CAUSAL GENETIC VARIANTS IN PSYCHIATRIC DISORDERS USING SUMMARY DATA BASED MENDELIAN ...
Straub, Richard E., Pergola, Giulio, Chen, Qiang, Kleinman, Joel E., Sadashivaiah, Vijay, Jaffe, Andrew E., Shin, Joo Heon, Radulescu, Eugenia, Hyde, Thomas M., Weinberger, Daniel R.   +9 more
core   +1 more source

G Protein‐Coupled Receptor Signaling: Implications and Therapeutic Development Advances in Cancers

MedComm
G protein‐coupled receptors (GPCRs) are the largest and most diverse class of membrane proteins, mediating cellular responses to a wide range of extracellular stimuli.
Inamu Rashid Khan, Sana Khurshid, Saud Almawash, Rakesh Kumar, Ammira S. Al‐Shabeeb Akil, Ajaz A. Bhat, Muzafar A. Macha   +6 more
doaj   +1 more source

Causal relationship between air pollution, lung function, gastroesophageal reflux disease, and non-alcoholic fatty liver disease: univariate and multivariate Mendelian randomization study

Frontiers in Public Health
BackgroundThe association between air pollution, lung function, gastroesophageal reflux disease, and Non-alcoholic fatty liver disease (NAFLD) remains inconclusive. Previous studies were not convincing due to confounding factors and reverse causality. We
Runmin Cao, Honghe Jiang, Yurun Zhang, Ying Guo, Weibin Zhang   +4 more
doaj   +1 more source

The Mendelian Inheritance of Mutations [PDF]

Science, 1908
n ...
openaire   +3 more sources

Robust methods in Mendelian randomization [PDF]

, 2019
Mendelian randomization uses genetic variants as instrumental variables to estimate the causal effect of a risk factor on an outcome using observational data.

core   +2 more sources

MENDELSEEK: An algorithm that predicts mendelian genes and elucidates what makes them special.

PLoS Computational Biology
Although individual Mendelian diseases-those caused by a single gene-are rare, their collective disease burden is substantial. Identifying the causal gene for each condition is essential for accurate diagnosis and effective treatment.
Hongyi Zhou, Brice Edelman, Jeffrey Skolnick   +2 more
doaj   +1 more source

Genetics of Childhood Epilepsy

Pediatric Neurology Briefs, 2000
Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
doaj   +1 more source