Anita E Beck (Anita Beck)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 6

Top Topics

Intellectual Disability

Acute Lymphoblastic Leukemia

Top Venues

American journal of medical genetics. Part A

Genetics in medicine : official journal of the American College of Medical Genetics

Science translational medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon H Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter M Krawitz, Linus Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, Francois V Bolduc, Elke Krüger, Stephane Bezieau
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science translational medicine 15 (698) (2023)
Fabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto, Kelly L Jones, Małgorzata J M Nowaczyk, Derek Wong, Dawn Earl, Ghayda Mirzaa, Anita E Beck, Julian A Martinez
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. Human genetics 140 (4) (2021)
Tara L Wenger, Randall A Bly, Natalie Wu, Catherine M Albert, Julie Park, Joseph Shieh, Jirat Chenbhanich, Carrie L Heike, Margaret P Adam, Irene Chang, Angela Sun, Danny E Miller, Anita E Beck, Deepti Gupta, Markus D Boos, Elaine H Zackai, David Everman, Shireen Ganapathi, Meredith Wilson, John Chrisodoulou, Yuri A Zarate, Cynthia Curry, Dong Li, Anne Guimier, Jeanne Amiel, Hakon Hakonarson, Richard Webster, Elizabeth Joyce Bhoj, Jonathan A Perkins, John P Dahl, William B Dobyns
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American journal of medical genetics. Part A 182 (7) (2020)
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, Noemi Vidal-Folch, Kris Liedtke, Devin Oglesbee, Dimitar K Gavrilov, Silvia Tortorelli, Dietrich Matern, Piero Rinaldo, James T Bennett, Jenny M Thies, Irene J Chang, Anita E Beck, Kimiyo Raymond, Eric J Allenspach, Christina Lam
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. American journal of medical genetics. Part A 185 (1) (2020)
Lauren B Carter, Agatino Battaglia, Athena Cherry, Melanie A Manning, Maura Rz Ruzhnikov, Lynne M Bird, Leah Ke'ala'aumoe Dowsett, John M Graham, Fowzan Sami Alkuraya, Mais Hashem, Mary Beth Dinulos, Stephanie Vallee, Margaret P Adam, Ian Glass, Anita E Beck, Cathy A Stevens, Elaine Zackai, Carey McDougall, Beth Keena, Angela Peron, Aglaia Vignoli, Laurie H Seaver, Thomas P Slavin, Louanne Hudgins
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. American journal of medical genetics. Part A 179 (8) (2019)
Sarah E Sheppard, Emilie Lalonde, N Scott Adzick, Anita E Beck, Tricia Bhatti, Diva D De León, Kelly A Duffy, Arupa Ganguly, Evan Hathaway, Jianling Ji, Rebecca L Linn, Katherine Lord, Linda M Randolph, Brian Sajorda, Lisa States, Laura K Conlin, Jennifer M Kalish
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)