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The Journal of Allergy and Clinical Immunology|July 22, 2015
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndromeAndrew W Lindsley, Howard M Saal, Thomas A Burrow, et al.Nature Communications|December 10, 2015
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutantEnrico Leipold, Andrea Hanson-Kahn, Miya Frick, et al.American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.Human Mutation|September 24, 2017
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotypeLi Chen, Philip J Jensik, Joseph T Alaimo, et al.JAMA Dermatology|February 18, 2026
Dupilumab in Patients With Chronic Spontaneous Urticaria: Phase 3 LIBERTY-CSU CUPID Randomized Clinical TrialsThomas B Casale, Sarbjit S Saini, Moshe Ben-Shoshan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.The Journal of Allergy and Clinical Immunology|December 25, 2007
The health effects of non-industrial indoor air pollutionJonathan A Bernstein, Neil Alexis, Hyacinth Bacchus, et al.Journal of Genetic Counseling|February 2, 2019
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling studentsMegan E Grove, Shana White, Dianna G Fisk, et al.The Journal of Allergy and Clinical Immunology. in Practice|September 8, 2020
US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary AngioedemaPaula J Busse, Sandra C Christiansen, Marc A Riedl, et al.Journal of Neurodevelopmental Disorders|April 30, 2025
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concernsHailey Silver, Rori Greenberg, Paige M Siper, et al.Pageof 62