Results 1 to 10 of about 1,217,828 (289)

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +2 more sources

Wilms tumor (nephroblastoma) – clinical and genetic aspects

Nowotwory, 2022
Nephroblastoma (Wilms tumor – WT) is the most common kidney tumor among the pediatric population, fifth among malignant neoplasms and third among solid tumors. The most common type of WT is sporadic and unilateral.
Małgorzata Janeczko-Czarnecka, Ryszard Ślęzak, Wojciech Pietras, Katarzyna Kilis Pstrusinska   +3 more
doaj   +1 more source

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj   +1 more source

Human variation in population-wide gene expression data predicts gene perturbation phenotype

iScience, 2022
Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, Laura L. Sun, Benedikt Reiz, Ioanna Gemünd, Adem Saglam, Souad Rahmouni, Michel Georges, Peer Arts, Alexander Hoischen, Leo A.B. Joosten, Frank L. van de Veerdonk, Mihai G. Netea, Kristian Händler, Sach Mukherjee, Thomas Ulas, Joachim L. Schultze, Anna C. Aschenbrenner   +18 more
doaj   +1 more source

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
doaj   +1 more source

Pitfalls in clinical genetics

Singapore Medical Journal, 2023
With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
doaj   +1 more source

Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
doaj   +1 more source

Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +10 more sources

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 more
doaj   +1 more source