E-LIB Suche - Ergebnisse für: Hiatt, Susan M

1

Parents' Perspectives on the Utility of Genomic Sequencing ..:

Lemke, Amy A. ; Thompson, Michelle L. ; Gimpel, Emily C....
Journal of Personalized Medicine. 13 (2023) 7 - p. 1026 , 2023

Link: https://doi.org/10.3390/..

2

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
Genetics in Medicine. 25 (2023) 11 - p. 100922 , 2023

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

3

Poison exon annotations improve the yield of clinically rel..:

Felker, Stephanie A. ; Lawlor, James M.J. ; Hiatt, Susan M....
Genetics in Medicine. 25 (2023) 8 - p. 100884 , 2023

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

4

Genome sequencing as a first-line diagnostic test for hospi..:

Bowling, Kevin M. ; Thompson, Michelle L. ; Finnila, Candice R....
Genetics in Medicine. 24 (2022) 4 - p. 851-861 , 2022

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

5

Long-read genome sequencing for the molecular diagnosis of ..:

Hiatt, Susan M. ; Lawlor, James M.J. ; Handley, Lori H....
Human Genetics and Genomics Advances. 2 (2021) 2 - p. 100023 , 2021

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

6

A state-based approach to genomics for rare disease and pop..:

East, Kelly M. ; Kelley, Whitley V. ; Cannon, Ashley...
Genetics in Medicine. 23 (2021) 4 - p. 777-781 , 2021

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

7

SouthSeq: genome sequencing as a frontline genetic test in ..:

Amaral, Michelle ; Thompson, Michelle ; Bowling, Kevin...
Molecular Genetics and Metabolism. 132 (2021) - p. S116-S117 , 2021

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

8

Variants in the degron of AFF3 are associated with intellec..:

Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia...
The American Journal of Human Genetics. 108 (2021) 5 - p. 857-873 , 2021

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

9

De novo TBR1 variants cause a neurocognitive phenotype with..:

CAUSES Study ; Nambot, Sophie ; Faivre, Laurence...
European Journal of Human Genetics. 28 (2020) 6 - p. 770-782 , 2020

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

10

BAZ2Bhaploinsufficiency as a cause of developmental delay, ..:

Scott, Tiana M. ; Guo, Hui ; Eichler, Evan E....
Human Mutation. 41 (2020) 5 - p. 921-925 , 2020

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

11

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndro..:

Popov, Ivan K. ; Hiatt, Susan M. ; Whalen, Sandra...
Frontiers in Physiology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

12

Pathogenic WDFY3 variants cause neurodevelopmental disorder..:

Le Duc, Diana ; Giulivi, Cecilia ; Hiatt, Susan M...
Brain. 142 (2019) 9 - p. 2617-2630 , 2019

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

13

Variants in TCF20 in neurodevelopmental disability: descrip..:

Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E....
Genetics in Medicine. 21 (2019) 9 - p. 2036-2042 , 2019

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

14

Genomic sequencing identifies secondary findings in a cohor..:

Thompson, Michelle L. ; Finnila, Candice R. ; Bowling, Kevin M....
Genetics in Medicine. 20 (2018) 12 - p. 1635-1643 , 2018

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

15

De novo mutations in MED13, a component of the Mediator com..:

The DDD study ; Snijders Blok, Lot ; Hiatt, Susan M....
Human Genetics. 137 (2018) 5 - p. 375-388 , 2018

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