E-LIB Suche - Ergebnisse für: Weisburd, Ben

1

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024

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

2

P575: The Rare Genomes Project: Improving access to genomic..:

Austin-Tse, Christina ; DiTroia, Stephanie ; O'Leary, Melanie...
Genetics in Medicine Open. 2 (2024) - p. 101481 , 2024

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

3

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 5 - p. 1250-1266 , 2024

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

4

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics. 18 (2024) 1 - p. , 2024

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

5

Systematic evaluation of genome sequencing for the diagnost..:

Lowther, Chelsea ; Valkanas, Elise ; Giordano, Jessica L....
The American Journal of Human Genetics. 110 (2023) 9 - p. 1454-1469 , 2023

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

6

RFC1 in an Australasian neurological disease cohort: extend..:

Scriba, Carolin K ; Stevanovski, Igor ; Chintalaphani, Sanjog R...
Brain Communications. 5 (2023) 4 - p. , 2023

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

7

Unexpected frequency of the pathogenic AR CAG repeat expans..:

Zanovello, Matteo ; Ibáñez, Kristina ; Brown, Anna-Leigh...
Brain. 146 (2023) 7 - p. 2723-2729 , 2023

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

8

seqr: A web‐based analysis and collaboration tool for rare ..:

Pais, Lynn S. ; Snow, Hana ; Weisburd, Ben...
Human Mutation. , 2022

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

9

REViewer: haplotype-resolved visualization of read alignmen..:

Dolzhenko, Egor ; Weisburd, Ben ; Ibañez, Kristina...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

10

Determinants of penetrance and variable expressivity in mon..:

Goodrich, Julia K. ; Singer-Berk, Moriel ; Son, Rachel...
Nature Communications. 12 (2021) 1 - p. , 2021

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

11

More than a fancy exome: unique capabilities of genome sequ..:

Wojcik, Monica ; Chao, Katherine ; Goodrich, Julia...
Molecular Genetics and Metabolism. 132 (2021) - p. S88 , 2021

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

12

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVA..:

Scriba, Carolin K ; Beecroft, Sarah J ; Clayton, Joshua S...
Brain. 143 (2020) 10 - p. 2904-2910 , 2020

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

13

RecurrentTTNmetatranscript‐only c.39974–11T>G splice varian..:

Bryen, Samantha J. ; Ewans, Lisa J. ; Pinner, Jason...
Human Mutation. 41 (2019) 2 - p. 403-411 , 2019

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

14

Correction: Insights into the genetic epidemiology of Crohn..:

Rivas, Manuel A. ; Avila, Brandon E. ; Koskela, Jukka...
PLOS Genetics. 15 (2019) 5 - p. e1008190 , 2019

Link: https://doi.org/10.1371/..

15

Integrating User Opinion in Decision Support Systems:

, In: Lecture Notes in Networks and Systems; Advances in Information and Communication,

Goldberg, Saveli ; Katz, Gabriel ; Weisburd, Ben.. - p. 1220-1226 , 2019

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