E-LIB Suche - Ergebnisse für: Everman, David B

1

Enabling the clinical application of artificial intelligenc..:

Walton, Nephi A ; Nagarajan, Radha ; Wang, Chen...
Journal of the American Medical Informatics Association. 31 (2023) 2 - p. 536-541 , 2023

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

2

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023

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

3

DNA methylation episignature for Witteveen-Kolk syndrome du..:

Coenen-van der Spek, Jet ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine. 25 (2023) 1 - p. 63-75 , 2023

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

4

Clinical and functional characterization of germline PIK3CA..:

Cooley Coleman, Jessica A ; Gass, Jennifer M ; Srikanth, Sujata...
Human Molecular Genetics. 32 (2022) 9 - p. 1457-1465 , 2022

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

5

Mosaicism of common pathogenic MECP2 variants identified in..:

Cooley Coleman, Jessica A. ; Fee, Timothy ; Bend, Renee...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2988-2998 , 2022

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

6

DLG4-related synaptopathy: a new rare brain disorder:

Rodríguez-Palmero, Agustí ; Boerrigter, Melissa Maria ; Gómez-Andrés, David...
Genetics in Medicine. 23 (2021) 5 - p. 888-899 , 2021

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

7

17. In silico SNP array for aiding in interpretation of gen..:

Fee, Timothy ; Everman, David B. ; Hilton, Benjamin A..
Cancer Genetics. 252-253 (2021) - p. S6 , 2021

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

8

MEF2C Hypofunction in Neuronal and Neuroimmune Populations ..:

Harrington, Adam J. ; Bridges, Catherine M. ; Berto, Stefano...
Biological Psychiatry. 88 (2020) 6 - p. 488-499 , 2020

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

9

Gene domain-specific DNA methylation episignatures highligh..:

Bend, Eric G. ; Aref-Eshghi, Erfan ; Everman, David B....
Clinical Epigenetics. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

10

A neurodevelopmental disorder caused by mutations in the VP..:

Gershlick, David C ; Ishida, Morié ; Jones, Julie R...
Human Molecular Genetics. 28 (2019) 9 - p. 1548-1560 , 2019

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

11

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/..

12

Redefining the Etiologic Landscape of Cerebellar Malformati..:

Aldinger, Kimberly A. ; Timms, Andrew E. ; Thomson, Zachary...
The American Journal of Human Genetics. 105 (2019) 3 - p. 606-615 , 2019

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

13

RIT1 oncoproteins escape LZTR1-mediated proteolysis:

Castel, Pau ; Cheng, Alice ; Cuevas-Navarro, Antonio...
Science. 363 (2019) 6432 - p. 1226-1230 , 2019

Link: https://doi.org/10.1126/..

14

The intellectual disability-associated CAMK2G p.Arg292Pro m..:

Proietti Onori, Martina ; Koopal, Balwina ; Everman, David B....
Human Mutation. 39 (2018) 12 - p. 2008-2024 , 2018

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

15

Autosomal recessive Noonan syndrome associated with biallel..:

Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A....
Genetics in Medicine. 20 (2018) 10 - p. 1175-1185 , 2018

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