Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum

Weiyi Xu; Andrea Graves; Monika Weisz-Hubshman; Lamees Hegazy; Christina Magyar; Zian Liu; Eleni Nasiotis; Md Abul Hassan Samee; Thomas Burris; Seema Lalani; Lilei Zhang

doi:10.1093/hmg/ddac252

Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum

Weiyi Xu
, Andrea Graves
, Monika Weisz-Hubshman
, Lamees Hegazy
, Christina Magyar
, Zian Liu
, Eleni Nasiotis
, Md Abul Hassan Samee
, Thomas Burris
, Seema Lalani
, Lilei Zhang

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	959-970
Number of pages	12
Journal	Human molecular genetics
Volume	32
Issue number	6
DOIs	https://doi.org/10.1093/hmg/ddac252
State	Published - Mar 6 2023
Externally published	Yes

ASJC Scopus Subject Areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/ddac252

Cite this

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title = "Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum",

author = "Weiyi Xu and Andrea Graves and Monika Weisz-Hubshman and Lamees Hegazy and Christina Magyar and Zian Liu and Eleni Nasiotis and Samee, \{Md Abul Hassan\} and Thomas Burris and Seema Lalani and Lilei Zhang",

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doi = "10.1093/hmg/ddac252",

language = "English",

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pages = "959--970",

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T1 - Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum

AU - Xu, Weiyi

AU - Graves, Andrea

AU - Weisz-Hubshman, Monika

AU - Hegazy, Lamees

AU - Magyar, Christina

AU - Liu, Zian

AU - Nasiotis, Eleni

AU - Samee, Md Abul Hassan

AU - Burris, Thomas

AU - Lalani, Seema

AU - Zhang, Lilei

PY - 2023/3/6

Y1 - 2023/3/6

UR - https://www.scopus.com/pages/publications/85150000654

UR - https://www.scopus.com/pages/publications/85150000654#tab=citedBy

U2 - 10.1093/hmg/ddac252

DO - 10.1093/hmg/ddac252

M3 - Article

C2 - 36229919

AN - SCOPUS:85150000654

SN - 1460-2083

VL - 32

SP - 959

EP - 970

JO - Human molecular genetics

JF - Human molecular genetics

IS - 6

ER -

Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum

ASJC Scopus Subject Areas

Access to Document

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Cite this