1. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020) Authors: Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019) Authors: Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Contractile properties of developing human fetal cardiac muscle. (7th December 2015) Authors: Racca, Alice W.; Klaiman, Jordan M.; Pioner, J. Manuel; Cheng, Yuanhua; Beck, Anita E.; Moussavi‐Harami, Farid; Bamshad, Michael J.; Regnier, Michael Journal: Journal of physiology Issue: Volume 594:Number 2(2016:Jan.) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Contractility and kinetics of human fetal and human adult skeletal muscle. (14th June 2013) Authors: Racca, Alice W.; Beck, Anita E.; Rao, Vijay S.; Flint, Galina V.; Lundy, Scott D.; Born, Donald E.; Bamshad, Michael J.; Regnier, Michael Journal: Journal of physiology Issue: Volume 591:Number 12(2013:Jun.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Contractility and kinetics of human fetal and human adult skeletal muscle. (14th June 2013) Authors: Racca, Alice W.; Beck, Anita E.; Rao, Vijay S.; Flint, Galina V.; Lundy, Scott D.; Born, Donald E.; Bamshad, Michael J.; Regnier, Michael Journal: Journal of physiology Issue: Volume 591:Number 12(2013:Jun.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder. Issue 2 (25th November 2022) Authors: Roessler, Franziska; Beck, Anita E.; Susie, Ball; Tobias, Bartolomaeus; Begtrup, Amber; Biskup, Saskia; Caluseriu, Oana; Delanty, Norman; Fröhlich, Christine; Greally, Marie T.; Karnstedt, Maike; Klöckner, Chiara; Kurtzberg, Joanne; Schubert, Susanna; Schulze, Martin; Weidenbach, Michael; Westpha... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype‐phenotype relationships in Freeman–Sheldon syndrome. Issue 11 (25th September 2014) Authors: Beck, Anita E.; McMillin, Margaret J.; Gildersleeve, Heidi I. S.; Shively, Kathryn M. B.; Tang, Andy; Bamshad, Michael J. Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature. Issue 1 (12th October 2020) Authors: Poskanzer, Sheri A.; Schultz, Matthew J.; Turgeon, Coleman T.; Vidal‐Folch, Noemi; Liedtke, Kris; Oglesbee, Devin; Gavrilov, Dimitar K.; Tortorelli, Silvia; Matern, Dietrich; Rinaldo, Piero; Bennett, James T.; Thies, Jenny M.; Chang, Irene J.; Beck, Anita E.; Raymond, Kimiyo; Allenspach, Eric J.;... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗