A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Anton Safonov; Tomoki T. Nomakuchi; Elizabeth Chao; Carrie Horton; Jill S. Dolinsky; Amal Yussuf; Marcy Richardson; Virginia Speare; Shuwei Li; Zoe C. Bogus; Maria Bonanni; Anna Raper; Trust Odia; Bradley S. Wubbenhorst; Elsa Faulders; Elisabeth M. Schuth; Kate Loranger; Jingwen Zhang; Carly Bess Scalise; Adam ElNaggar; Youbao Sha; Stephanie A. Felker; Jeffrey Weitzel; Staci Kallish; Marylyn D. Ritchie; Katherine L. Nathanson; Theodore G. Drivas

doi:10.1038/s41467-025-57077-1

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

A Anton Safonov T Tomoki T. Nomakuchi E Elizabeth Chao C Carrie Horton J Jill S. Dolinsky A Amal Yussuf M Marcy Richardson V Virginia Speare S Shuwei Li Z Zoe C. Bogus M Maria Bonanni A Anna Raper T Trust Odia B Bradley S. Wubbenhorst E Elsa Faulders E Elisabeth M. Schuth K Kate Loranger J Jingwen Zhang C Carly Bess Scalise A Adam ElNaggar Y Youbao Sha S Stephanie A. Felker J Jeffrey Weitzel S Staci Kallish M Marylyn D. Ritchie K Katherine L. Nathanson T Theodore G. Drivas

Download PDF View Original

APA MLA Chicago BibTeX RIS

Article Details

Journal Nature Communications

Volume / Issue Vol. 16, Issue 1

Published April 01, 2025

DOI 10.1038/s41467-025-57077-1

ISSN 2041-1723

Publisher Nature Portfolio

Journal Info

Nature Communications

Nature Portfolio

ISSN: 2041-1723 Open Access Life Sciences

Authors (27)

A

Anton Safonov

T

Tomoki T. Nomakuchi

E

Elizabeth Chao

C

Carrie Horton

J

Jill S. Dolinsky

A

Amal Yussuf

M

Marcy Richardson

V

Virginia Speare

S

Shuwei Li

Z

Zoe C. Bogus

M

Maria Bonanni

A

Anna Raper

T

Trust Odia

B

Bradley S. Wubbenhorst

E

Elsa Faulders

E

Elisabeth M. Schuth

K

Kate Loranger

J

Jingwen Zhang

C

Carly Bess Scalise

A

Adam ElNaggar

Y

Youbao Sha

S

Stephanie A. Felker

J

Jeffrey Weitzel

S

Staci Kallish

M

Marylyn D. Ritchie

K

Katherine L. Nathanson

T

Theodore G. Drivas

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Article Details

Journal Info

Authors (27)

Related Articles from this Journal

Synthesis of adaptive 15N-nitrosyl-Co7 nanocluster for electrocatalytic C–H functionalization

Pan-Ebolavirus nanoparticle vaccine provides protection in rodents from lethal infection by Zaire and Sudan viruses

Multi-population GWAS meta-analysis identifies bladder cancer susceptibility loci and highlights genetic regulation of smoking-related risk

Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants

Allele-specific chromatin architecture shapes imprinted domains and coordinates a distal enhancer and antisense transcription at the mouse Mest-Copg2 domain