Suchergebnisse - "Steinberg, Karyn Meltz"

PubPharm (36)

1

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

enthalten in: bioRxiv.org | 2020

von Schneider, V. | Graves-Lindsay, T. | Howe, K. | +33

2

Author Correction : Exome sequencing of Finnish isolates enhances rare-variant association power

enthalten in: Nature | 2019

von Locke, A. | Steinberg, K. | Chiang, C. | +40

ErratumFor: Nature. 2019 Aug;572(7769):323-328. - PMID 31367044

3

Exome sequencing of Finnish isolates enhances rare-variant association power

enthalten in: Nature | 2019

von Locke, A. | Steinberg, K. | Chiang, C. | +40

ErratumIn: Nature. 2019 Nov;575(7783):E4. - PMID 31686056

4

High-Quality Assembly of an Individual of Yoruban Descent

enthalten in: bioRxiv.org | 2019

von Steinberg, K. | Lindsay, T. | Schneider, V. | +22

5

A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease

enthalten in: Blood advances | 2018

von Baker, T. | Gambino, K. | Schriefer, L. | +5

6

Corrigendum : Discovery and genotyping of structural variation from long-read haploid genome sequence data

enthalten in: Genome research | 2018

von Huddleston, J. | Chaisson, M. | Steinberg, K. | +13

ErratumFor: Genome Res. 2017 May;27(5):677-685. - PMID 27895111

7

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

enthalten in: Genome research | 2017

von Schneider, V. | Graves-Lindsay, T. | Howe, K. | +35

8

Discovery and genotyping of structural variation from long-read haploid genome sequence data

enthalten in: Genome research | 2017

von Huddleston, J. | Chaisson, M. | Steinberg, K. | +13

ErratumIn: Genome Res. 2018 Jan;28(1):144. - PMID 29295848

9

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

enthalten in: Scientific reports | 2015

von Steinberg, K. | Yu, B. | Koboldt, D. | +2

10

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

enthalten in: American journal of human genetics | 2015

von Leslie, E. | Taub, M. | Liu, H. | +31