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Genome Research|March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Journal of Neurodevelopmental Disorders|May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromeTess Levy, Jacob Gluckman, Paige M Siper, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
The World Allergy Organization Journal|January 4, 2013
Diagnosis and treatment of urticaria and angioedema: a worldwide perspectiveMario Sánchez-Borges, Riccardo Asero, Ignacio J Ansotegui, et al.
The New England Journal of Medicine|March 16, 2022
Inhibition of Prekallikrein for Hereditary AngioedemaLauré M Fijen, Marc A Riedl, Laura Bordone, et al.
Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
Allergy|July 18, 2025
The Minimal Clinically Important Difference in Allergen Immunotherapy: An Evidence-Based ApproachOliver Pfaar, Ralph Mösges, Michael S Blaiss, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 28, 2025
Change, Career Transitions, and Retirement in Allergy-ImmunologyMelinda Rathkopf, Ray S Davis, Dana V Wallace, et al.
ACR Open Rheumatology|July 3, 2026
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK BlockadeAnnel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, et al.
Elife|July 27, 2016
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patientsYishan Sun, Sergiu P Paşca, Thomas Portmann, et al.
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