Results 101 to 110 of about 75,829 (126)

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
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Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody, Barry H, Thompson, Louanne, Hudgins   +2 more
openaire   +2 more sources

Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing

Biological Reviews, 2017
ABSTRACTWhole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge of the occurrence and functional effects of DNMs remains limited and accurately ...
Zi‐Bing Jin, Zhongshan Li, Zhenwei Liu, Yi Jiang, Xue‐Bi Cai, Jinyu Wu   +5 more
openaire   +2 more sources

Sa1624 WHOLE EXOME/GENOME SEQUENCING IN CYCLIC VOMITING SYNDROME REVEALS MULTIPLE CANDIDATE GENES, SUGGESTING A MODEL OF ELEVATED INTRACELLULAR CATIONS AND MITOCHONDRIAL DYSFUNCTION IN VAGAL AFFERENTS

Gastroenterology, 2023
Omri Bar, Laurie Y. Ebenau, Kellee A. Weiner, Mark Mintz, Richard G. Boles   +4 more
openaire   +1 more source

Whole Exome/Genome Sequencing in Cyclic Vomiting Syndrome, a Migraine Variant, Reveals Multiple Candidate Genes, Especially in Cation Channels, Suggesting a Mechanism of Cellular Overexcitation (S41.007)

Neurology, 2023
Omri Bar, Laurie Ebenau, Kellee Weiner, Mark Mintz, Richard Boles   +4 more
openaire   +1 more source

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Cancers, 2021
Savvas Kinalis, Maria Rossing, Arman Simonyan   +2 more
exaly  

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Genes, 2021
Yaoshen Wang, Shiyi Xiong, Sun Luming
exaly  

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

Clinics in Perinatology, 2022
Michael Muriello
exaly