Clinical Diagnostic Genetic Testing for Individuals With Developmental Disorders

2017 ◽  
Vol 56 (11) ◽  
pp. 910-913 ◽  
Author(s):  
Rebecca A. Muhle ◽  
Hannah E. Reed ◽  
Lan Chi Vo ◽  
Sunil Mehta ◽  
Kelly McGuire ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Developmental Disorders ◽  
Clinical Diagnostic ◽  
Diagnostic Genetic Testing

Temporal trends and yield of clinical diagnostic genetic testing in adult neurology

2021 ◽  
Author(s):  
Michael H. Guo ◽  
Tanya M. Bardakjian ◽  
Morgan R. Brzozowski ◽  
Steven S. Scherer ◽  
Colin Quinn ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Temporal Trends ◽  
Clinical Diagnostic ◽  
Diagnostic Genetic Testing

Recommendations for Diagnostic Genetic Testing in Epilepsies

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
S. von Spiczak ◽  
K.-M. Klein ◽  
G. Kluger ◽  
J. Lemke ◽  
B. Neubauer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diagnostic Genetic Testing

scholarly journals Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

2019 ◽  
Author(s):  
Joanna Kaplanis ◽  
Kaitlin E. Samocha ◽  
Laurens Wiel ◽  
Zhancheng Zhang ◽  
Kevin J. Arvai ◽  
...  
Keyword(s):  
Developmental Disorders ◽  
De Novo ◽  
Genetic Data ◽  
Statistical Test ◽  
Integrated Healthcare ◽  
Protein Coding ◽  
Protein Coding Genes ◽  
Clinical Diagnostic ◽  
Simulation Based

SummaryDe novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD). However, known DD-associated genes only account for a minority of the observed excess of such DNMs. To identify novel DD-associated genes, we integrated healthcare and research exome sequences on 31,058 DD parent-offspring trios, and developed a simulation-based statistical test to identify gene-specific enrichments of DNMs. We identified 285 significantly DD-associated genes, including 28 not previously robustly associated with DDs. Despite detecting more DD-associated genes than in any previous study, much of the excess of DNMs of protein-coding genes remains unaccounted for. Modelling suggests that over 1,000 novel DD-associated genes await discovery, many of which are likely to be less penetrant than the currently known genes. Research access to clinical diagnostic datasets will be critical for completing the map of dominant DDs.

Rates of diagnostic genetic testing in a tertiary ocular genetics clinic

2020 ◽  
Vol 41 (3) ◽  
pp. 271-274 ◽  
Author(s):  
R. Scott Lowery ◽  
John R. Dehnel ◽  
G. Bradley Schaefer ◽  
Sami H. Uwaydat
Keyword(s):  
Genetic Testing ◽  
Diagnostic Genetic Testing

scholarly journals Diagnostic genetic testing for Huntington's disease

2014 ◽  
Vol 15 (1) ◽  
pp. 80-84 ◽  
Author(s):  
David Craufurd ◽  
Rhona MacLeod ◽  
Marina Frontali ◽  
Oliver Quarrell ◽  
Emilia K Bijlsma ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Diagnostic Genetic Testing

Predictive and Diagnostic Genetic Testing in Psychiatry

2010 ◽  
Vol 33 (1) ◽  
pp. 225-243 ◽  
Author(s):  
Philip B. Mitchell ◽  
Bettina Meiser ◽  
Alex Wilde ◽  
Janice Fullerton ◽  
Jennifer Donald ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diagnostic Genetic Testing
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