Cargando…

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

OBJECTIVE: Molecular genetic testing for hereditary neuromuscular disorders is increasingly used to identify disease subtypes, determine prevalence, and inform management and prognosis, and although many small disease-specific studies have demonstrated the utility of genetic testing, comprehensive d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Winder, Thomas L., Tan, Christopher A., Klemm, Sarah, White, Hannah, Westbrook, Jody M., Wang, James Z., Entezam, Ali, Truty, Rebecca, Nussbaum, Robert L., McNally, Elizabeth M., Aradhya, Swaroop
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164976/ https://www.ncbi.nlm.nih.gov/pubmed/32337338 http://dx.doi.org/10.1212/NXG.0000000000000412

Ejemplares similares

25.000 años de mecánica : hombres, músculos y máquinas a través de los siglos /
por: Hogben, Lancelot Thomas, 1895-1975
Publicado: (1957)

25.000 años de historia subterránea : El apasionante rompecabezas de la arqueología /
por: Jessup, Ronald, 1906-
Publicado: (1957)

25.000 años de matemáticas : historia ilustrada de los números, el cálculo y las medidas /
por: Hogben, Lancelot Thomas, 1895-1975
Publicado: (1957)

25.000 años de Medicina : de la magia a la más moderna ciencia de curar
por: Calder, Ritchie, 1906-1982

Walter Reed Memorial Association: $25,000 to Be Raised. — Subscriptions Solicited
por: DeWitt, C.
Publicado: (1904)

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals
por: Bowen, B. Monica, et al.
Publicado: (2021)

MaxQuant.Live Enables Global Targeting of More Than 25,000 Peptides
por: Wichmann, Christoph, et al.
Publicado: (2019)

Epitaxial SrTiO(3) films with dielectric constants exceeding 25,000
por: Yang, Zhifei, et al.
Publicado: (2022)

Alcohol consumption and well-being among 25,000 Danish high school students
por: Sofie Plum Christensen, Anne, et al.
Publicado: (2022)

25,000 Years long seismic cycle in a slow deforming continental region of Mongolia
por: Bollinger, Laurent, et al.
Publicado: (2021)

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings
por: McKnight, Dianalee, et al.
Publicado: (2021)

Pneumonia prevention effects of perioperative oral management in approximately 25,000 patients following cancer surgery
por: Kurasawa, Yasuhiro, et al.
Publicado: (2019)

CAD-CAP: a 25,000-image database serving the development of artificial intelligence for capsule endoscopy
por: Leenhardt, Romain, et al.
Publicado: (2020)

A comprehensive database of active and potentially-active continental faults in Chile at 1:25,000 scale
por: Maldonado, Valentina, et al.
Publicado: (2021)

Socioeconomic differences in purchases of more vs. less healthy foods and beverages: Analysis of over 25,000 British households in 2010()
por: Pechey, Rachel, et al.
Publicado: (2013)

The International Living Guide to Retiring Overseas on a Budget: How to Live Well on $25,000 a Year
por: Prescher, Dan
Publicado: (2014)

Genome-scale sequencing and analysis of human, wolf, and bison DNA from 25,000-year-old sediment
por: Gelabert, Pere, et al.
Publicado: (2021)

Combinations of self‐reported rhinitis, conjunctivitis, and asthma predicts IgE sensitization in more than 25,000 Danes
por: Mikkelsen, Susan, et al.
Publicado: (2021)

The Chinese Lexicon Project II: A megastudy of speeded naming performance for 25,000+ traditional Chinese two-character words
por: Tse, Chi-Shing, et al.
Publicado: (2022)

Sistema de tratamiento de aguas residuales utilizando lagunas de estabilización (para una comunidad de 25,000 habitantes)
por: Espinosa Gómez, Eglantina
Publicado: (1988)

Shortening velocity and power output of skinned muscle fibers from mammals having a 25,000-fold range of body mass
Publicado: (1991)

Could cardiac autonomic modulation be an objective method to identify hypobaric hypoxia symptoms at 25.000ft among Brazilian military airmen?
por: Honorato, Fernando Sousa, et al.
Publicado: (2022)

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
por: Truty, Rebecca, et al.
Publicado: (2019)

Meta-analysis on the risk of fatal adverse events by bevacizumab, cetuximab, and panitumumab in 31 randomized trials including 25,000 patients with colorectal carcinoma
por: Chen, Jianxin, et al.
Publicado: (2020)

Patient-Specific Risk Factors Exist for Hip Fractures After Arthroscopic Femoroacetabular Impingement Surgery, But Not for Dislocation—An Analysis of More Than 25,000 Hip Arthroscopies
por: Varshneya, Kunal, et al.
Publicado: (2021)

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes
por: Truty, Rebecca, et al.
Publicado: (2018)

Long Commute Time and Sleep Problems with Gender Difference in Work–Life Balance: A Cross-sectional Study of More than 25,000 Workers
por: Kim, Soojin, et al.
Publicado: (2019)

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally
por: Aradhya, Swaroop, et al.
Publicado: (2018)

A Randomised, Double-Blinded, Placebo-Controlled, Parallel Study of Vitamin D3 Supplementation with Different Schemes Based on Multiples of 25,000 IU Doses
por: Cavalier, Etienne, et al.
Publicado: (2013)

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
por: Truty, Rebecca, et al.
Publicado: (2021)

How Could One Sperm and One Oocyte Proceed To Molar Pregnancy? Prevalence of Molar Pregnancy during ICSI Procedure in Over 25,000 Fresh Embryo Transfers: A Retrospective Cross-Sectional Study
por: Hafezi, Maryam, et al.
Publicado: (2023)

Los 25000 mejores versos de la lengua castellana.
Publicado: (1969)

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients
por: Park, Jihye, et al.
Publicado: (2019)

Randomised clinical trial: a 1-week, double-blind, placebo-controlled study of pancreatin 25 000 Ph. Eur. minimicrospheres (Creon 25000 MMS) for pancreatic exocrine insufficiency after pancreatic surgery, with a 1-year open-label extension
por: Seiler, C M, et al.
Publicado: (2013)

Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment
por: Quinn, Jessica, et al.
Publicado: (2020)

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance
por: Johnson, Britt, et al.
Publicado: (2022)

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
por: Lincoln, Stephen E., et al.
Publicado: (2021)

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR
por: Nykamp, Keith, et al.
Publicado: (2021)

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
por: LaDuca, Holly, et al.
Publicado: (2014)

Microrefugia and Shifts of Hippophae tibetana (Elaeagnaceae) on the North Side of Mt. Qomolangma (Mt. Everest) during the Last 25000 Years
por: Xu, Lu, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_533rkr4k0gg2l3da6h3v3dcang