E-LIB Suche - Ergebnisse für: Byrne, Alicia B.

1

169 Curating the fetal genome: experience of the ClinGen pr..:

Galloway, Stephanie ; Giordano, Jessica L. ; Thomas-Wilson, Amanda...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S106 , 2024

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

2

ClinGen guidance for use of the PP1/BS4 co-segregation and ..:

Biesecker, Leslie G. ; Byrne, Alicia B. ; Harrison, Steven M....
The American Journal of Human Genetics. 111 (2024) 1 - p. 24-38 , 2024

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

3

Author Correction: Genomic autopsy to identify underlying c..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 30 (2023) 1 - p. 302-302 , 2023

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

4

Using the ACMG/AMP framework to capture evidence related to..:

Walker, Logan C. ; Hoya, Miguel de la ; Wiggins, George A.R....
The American Journal of Human Genetics. 110 (2023) 7 - p. 1046-1067 , 2023

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

5

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 29 (2023) 1 - p. 180-189 , 2023

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

6

Calibration of computational tools for missense variant pat..:

Pejaver, Vikas ; Byrne, Alicia B. ; Feng, Bing-Jian...
The American Journal of Human Genetics. 109 (2022) 12 - p. 2163-2177 , 2022

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

7

Compound heterozygous variants in LAMC3 in association with..:

De Angelis, Carla ; Byrne, Alicia B. ; Morrow, Rebecca...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

8

Posterior Neocortex-Specific Regulation of Neuronal Migrati..:

Kodani, Andrew ; Kenny, Connor ; Lai, Abbe...
Neuron. 106 (2020) 2 - p. 246-255.e6 , 2020

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

9

Paternal mosaicism for a novel PBX1 mutation associated wit..:

Arts, Peer ; Garland, Jessica ; Byrne, Alicia B....
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1273-1277 , 2020

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

10

Pseudodiastrophic dysplasia expands the known phenotypic sp..:

Byrne, Alicia B ; Mizumoto, Shuji ; Arts, Peer...
Journal of Medical Genetics. 57 (2020) 7 - p. 454-460 , 2020

Link: https://doi.org/10.1136/..

11

Identification and targeted management of a neurodegenerati..:

Byrne, Alicia B. ; Arts, Peer ; Polyak, Steven W....
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

12

matchbox: An open-source tool for patient matching via the ..:

Arachchi, Harindra ; Wojcik, Monica H ; Weisburd, Benjamin...
Human Mutation. 39 (2018) 12 - p. 1827-1834 , 2018

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

13

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE R..:

Walker, Logan C ; de la Hoya, Miguel ; Wiggins, George AR...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980257/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B ; Arts, Peer ; Ha, Thuong T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10333122/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Calibration of computational tools for missense variant pat..:

Pejaver, Vikas ; Byrne, Alicia B ; Feng, Bing-Jian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748256/. , 2022

Link: http://www.ncbi.nlm.nih...