E-LIB Suche - Ergebnisse für: Lyon, Elaine

1

Clinical pharmacogenomic testing and reporting: A technical..:

Tayeh, Marwan K. ; Gaedigk, Andrea ; Goetz, Matthew P....
Genetics in Medicine. 24 (2022) 4 - p. 759-768 , 2022

Link: https://doi.org/10.1016/..

2

Refining ClinGen loss of function variant recommendations f..:

Groopman, Emily ; Weaver, Meredith ; Zastrow, Diane...
Molecular Genetics and Metabolism. 132 (2021) - p. S231 , 2021

Link: https://doi.org/10.1016/..

3

Reducing Sanger confirmation testing through false positive..:

Holt, James M. ; Kelly, Melissa ; Sundlof, Brett...
Genetics in Medicine. 23 (2021) 7 - p. 1255-1262 , 2021

Link: https://doi.org/10.1038/..

4

Confirmation of Parentage in Clinical Genome Sequencing Cas..:

Holt, James ; Williams, Kelly ; Kelly, Melissa...
Molecular Genetics and Metabolism. 132 (2021) - p. S256 , 2021

Link: https://doi.org/10.1016/..

5

Laboratory testing for fragile X, 2021 revision: a technica..:

Spector, Elaine ; Behlmann, Andrea ; Kronquist, Kathryn...
Genetics in Medicine. 23 (2021) 5 - p. 799-812 , 2021

Link: https://doi.org/10.1038/..

6

The Science and Art of Clinical Genetic Variant Classificat..:

Giles, Hunter H. ; Hegde, Madhuri R. ; Lyon, Elaine...
Annual Review of Genomics and Human Genetics. 22 (2021) 1 - p. 285-307 , 2021

Link: https://doi.org/10.1146/..

7

DNA-based screening and population health: a points to cons..:

Murray, Michael F. ; Giovanni, Monica A. ; Doyle, Debra L....
Genetics in Medicine. 23 (2021) 6 - p. 989-995 , 2021

Link: https://doi.org/10.1038/..

8

Tailoring the ACMG/AMP sequence variant interpretation guid..:

Flowers, May ; Weaver, Meredith ; Baudet, Heather...
Molecular Genetics and Metabolism. 132 (2021) - p. S254 , 2021

Link: https://doi.org/10.1016/..

9

Recommended measures for the efficient care of patients wit..:

Hamad, Lina ; Kreidieh, Khalil ; Nakouzi, Ghunwa..
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2841-2846 , 2020

Link: https://doi.org/10.1002/..

10

Postmortem CYP2D6 Genotyping and Copy Number Determinations..:

Melis, Roberta ; Mohamed, Jama ; Ha, Youna..
Journal of Analytical Toxicology. 43 (2019) 5 - p. 411-414 , 2019

Link: https://doi.org/10.1093/..

11

Assessing the strength of evidence for genes implicated in ..:

McGlaughon, Jennifer L. ; Pasquali, Marzia ; Wallace, Kathleen...
Molecular Genetics and Metabolism. 128 (2019) 1-2 - p. 122-128 , 2019

Link: https://doi.org/10.1016/..

12

Clinical Diagnosis through Whole-Genome Sequencing:

Hurst, Anna C E ; Wilk, Melissa A ; Holt, James M..
Clinical Chemistry. 66 (2019) 1 - p. 261-262 , 2019

Link: https://doi.org/10.1093/..

13

Response to Biesecker and Harrison:

Richards, C Sue ; Aziz, Nazneen ; Bale, Sherri...
Genetics in Medicine. 20 (2018) 12 - p. 1689-1690 , 2018

Link: https://doi.org/10.1038/..

14

Unique aspects of sequence variant interpretation for inbor..:

Zastrow, Diane B. ; Baudet, Heather ; Shen, Wei...
Human Mutation. 39 (2018) 11 - p. 1569-1580 , 2018

Link: https://doi.org/10.1002/..

15

Genomic Applications in Inherited Genetic Disorders:

, In: Genomic Applications in Pathology,

Krock, Bryan L. ; Mao, Rong ; Tvrdik, Tatiana.. - p. 543-560 , 2018

Link: https://doi.org/10.1007/..