Results 301 to 310 of about 178,713 (349)

Whole-Exome Sequencing-Based Linkage Analysis of Multiple Myeloma (MM) and Monoclonal Gammopathy of Undetermined Significance (MGUS) Pedigrees. [PDF]

Cancers (Basel)
Clay-Gilmour AI, Camp NJ, Wei X, Earle A, Norman A, Sinnwell J, Demangel D, Griffin R, Dumontet C, McKay J, Offit K, Joseph V, Chen S, O'Brien D, Rajkumar V, Klein R, Kumar S, Lipkin S, Vachon CM.   +18 more
europepmc   +1 more source

Clinical benefit of additional whole-exome sequencing over panel sequencing in an all-comer real-world molecular tumor board. [PDF]

ESMO Open
Krieghoff-Henning E, Michaeli T, Boch T, Kirchhof J, Haselmann V, Neumaier M, Hofmann WK, Betge J, Ebert M, Teufel A, Ast V, Sauer C, Cotarelo C, Lozynskyy R, Janning M, Marmé F, Sütterlin M, Streuer A, Siegel F, Brochhausen C, Collienne M, Nowak D, Loges S.   +22 more
europepmc   +1 more source

The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World

Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley   +1 more source

Whole Exome Sequencing in Prenatal Diagnostics [PDF]

, 2018
Becher, Naja, Miltoft, Caroline Borregaard, Pedersen, Lars Henning, Vogel, Ida, Petersen, Olav Bjørn   +4 more
openaire   +1 more source

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Whole Exome Sequencing

Dermatitis, 2013
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
openaire   +4 more sources

Prenatal whole‐exome sequencing: parental attitudes

Prenatal Diagnosis, 2015
AbstractObjectiveThe aim of this study was to survey the opinions of expectant parents regarding prenatal whole‐exome sequencing.MethodsThe study used a questionnaire that focused on acceptability of prenatal whole‐exome sequencing to individuals who pursued first‐trimester prenatal screening in a tertiary academic medical center.
Eve J, Kalynchuk, Andrew, Althouse, Lisa S, Parker, Devereux N, Saller, Aleksandar, Rajkovic   +4 more
openaire   +2 more sources

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

Whole-exome sequencing

2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
openaire   +1 more source

Whole-exome sequencing: A changing landscape of prenatal counseling

2022
In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’s and parents, this implies a change in counseling, other demands for informed decision making and a ...
Diderich, Karin E. M., Klapwijk, Jasmijn E., Joosten, Marieke, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.   +4 more
openaire   +2 more sources