E-LIB Suche - Ergebnisse für: Harrison A Brand

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

O11: An atlas of 1.2M structural variants across global pop..:

Brand, Harrison ; Zhao, Xuefang ; Fu, Jack...
Genetics in Medicine Open. 2 (2024) - p. 101015 , 2024

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

3

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/..

4

Author Correction: GATK-gCNV enables the discovery of rare ..:

Babadi, Mehrtash ; Fu, Jack M. ; Lee, Samuel K....
Nature Genetics. 56 (2024) 3 - p. 553-553 , 2024

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

5

Improving prenatal diagnosis through standards and aggregat..:

Duyzend, Michael H. ; Cacheiro, Pilar ; Jacobsen, Julius O. B....
Prenatal Diagnosis. 44 (2024) 4 - p. 454-464 , 2024

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

6

A harmonized public resource of deeply sequenced diverse hu..:

Koenig, Zan ; Yohannes, Mary T. ; Nkambule, Lethukuthula L....
Genome Research. , 2024

Link: https://doi.org/10.1101/..

7

Rare variants found in clinical gene panels illuminate the ..:

Diaz Perez, Kimberly K. ; Curtis, Sarah W. ; Sanchis-Juan, Alba...
Genetics in Medicine. 25 (2023) 10 - p. 100918 , 2023

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

8

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/..

9

Genome-wide structural variant analysis identifies risk loc..:

Kaivola, Karri ; Chia, Ruth ; Ding, Jinhui...
Cell Genomics. 3 (2023) 6 - p. 100316 , 2023

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

10

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/..

11

Trio-based GWAS identifies novel associations and subtype-s..:

Robinson, Kelsey ; Mosley, Trenell J. ; Rivera-González, Kenneth S....
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100234 , 2023

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

12

PLS3 missense variants affecting the actin-binding domains ..:

Petit, Florence ; Longoni, Mauro ; Wells, Julie...
The American Journal of Human Genetics. 110 (2023) 10 - p. 1787-1803 , 2023

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

13

Structural variants in Lewy body dementia and frontotempora..:

Kaivola, Karri ; Chia, Ruth ; Ding, Jinhui...
Alzheimer's & Dementia. 19 (2023) S12 - p. , 2023

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

14

Phenotype and genetic analysis of data collected within the..:

Kipkemoi, Patricia ; Kim, Heesu Ally ; Christ, Bjorn...
Neuron. 111 (2023) 18 - p. 2800-2810.e5 , 2023

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

15

O39: Comprehensive, high-resolution, and non-invasive prena..:

Duyzend, Michael ; Brand, Harrison ; Whelan, Christopher...
Genetics in Medicine Open. 1 (2023) 1 - p. 100646 , 2023

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