E-LIB Suche - Ergebnisse für: Baugh, Evan

1

Monoallelic variation in DHX9, the gene encoding the DExH-b..:

Calame, Daniel G. ; Guo, Tianyu ; Wang, Chen...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1394-1413 , 2023

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

2

A concurrent dual analysis of genomic data augments diagnos..:

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe...
Genetics in Medicine. 25 (2023) 4 - p. 100353 , 2023

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

3

eP435: Issues in interpreting results in research genomic t..:

Revah-Politi, Anya ; Kushary, Sulagna (Tina) ; Vena, Natalie...
Genetics in Medicine. 24 (2022) 3 - p. S272-S273 , 2022

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

4

Ancestry adjustment improves genome-wide estimates of regio..:

Hayeck, Tristan J ; Stong, Nicholas ; Baugh, Evan...
Genetics. , 2022

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

5

Defining the genotypic and phenotypic spectrum of X-linked ..:

Brunet, Theresa ; McWalter, Kirsty ; Mayerhanser, Katharina...
Genetics in Medicine. 23 (2021) 2 - p. 384-395 , 2021

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

6

The Epilepsy Genetics Initiative: a final summary:

Kushary, Sulagna (Tina) ; Bier, Louise ; Lippa, Natalie...
Molecular Genetics and Metabolism. 132 (2021) - p. S243 , 2021

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

7

Whole exome sequencing across clinical specialties within a..:

Lippa, Natalie ; Bier, Louise ; Revah-Politi, Anya...
Molecular Genetics and Metabolism. 132 (2021) - p. S226-S227 , 2021

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

8

Influence of surface charge, binding site residues and glyc..:

Shirke, Abhijit N. ; Basore, Danielle ; Holton, Samantha...
Applied Microbiology and Biotechnology. 100 (2016) 10 - p. 4435-4446 , 2016

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

9

Whole exome sequencing reveals potentially pathogenic varia..:

Cohen, Adi ; Hostyk, Joseph ; Baugh, Evan H....
Bone. 154 (2022) - p. 116253 , 2022

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

10

CSNK2B: A broad spectrum of neurodevelopmental disability a..:

Ernst, Michelle E. ; Baugh, Evan H. ; Thomas, Amanda...
Epilepsia. 62 (2021) 7 - p. , 2021

Link: https://doi.org/10.1111/..

11

Truncating variants in the SHANK1 gene are associated with ..:

May, Halie J. ; Jeong, Jaehoon ; Revah-Politi, Anya...
Genetics in Medicine. 23 (2021) 10 - p. 1912-1921 , 2021

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

12

Genetic testing in individuals with cerebral palsy:

May, Halie J ; Fasheun, Jennifer A ; Bain, Jennifer M...
Developmental Medicine & Child Neurology. 63 (2021) 12 - p. 1448-1455 , 2021

Link: https://doi.org/10.1111/..

13

Serine biosynthesis defect due to haploinsufficiency of PHG..:

Eade, Kevin ; Gantner, Marin L. ; Hostyk, Joseph A....
Nature Metabolism. 3 (2021) 3 - p. 366-377 , 2021

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

14

The benefit of diagnostic whole genome sequencing in schizo..:

Alkelai, Anna ; Greenbaum, Lior ; Docherty, Anna R....
Molecular Psychiatry. 27 (2021) 3 - p. 1435-1447 , 2021

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

15

A pathogenic variant in theSETBP1hotspot results in a forme..:

Sullivan, Jennifer A. ; Stong, Nicholas ; Baugh, Evan H....
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1947-1951 , 2020

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