Anita E Beck
6PUBLICATIONS
78CO-AUTHORS
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Publications (6)
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|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Frédéric Ebstein, Sébastien Küry, Victoria Most
|Jan 03, 2021
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.Fabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto
|Oct 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon
|Jun 06, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.Tara L Wenger, Randall A Bly, Natalie Wu
|Jun 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.Lauren B Carter, Agatino Battaglia, Athena Cherry
|Jun 01, 2019
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.Sarah E Sheppard, Emilie Lalonde, N Scott Adzick
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Frequent Collaborators
1 joint publications
Fabiola Quintero-Rivera
1 joint publications
Celeste C Eno
1 joint publications
Julian A Martinez-Agosto
1 joint publications
Sarah E Sheppard
1 joint publications
Diva D De Leon
1 joint publications
Rebecca Linn
1 joint publications
Brian Sajorda
1 joint publications
Laura K Conlin
1 joint publications
Jennifer M Kalish
1 joint publications
Lauren B Carter
