| 37256972 | Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome. | N Engl J Med | 2023 |
| 35095905 | The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. | Front Immunol | 2022 |
| 35868845 | Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Ann Rheum Dis | 2022 |
| 33619160 | Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. | Ann Rheum Dis | 2021 |
| 32601469 | Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. | Nat Immunol | 2020 |
| 33108101 | Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease. | N Engl J Med | 2020 |
| 30574673 | DDX58 and Classic Singleton-Merten Syndrome. | J Clin Immunol | 2019 |
| 30401460 | Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. | Am J Hum Genet | 2018 |
| 28603714 | Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Front Med (Lausanne) | 2017 |
| 29052317 | Defective ciliogenesis in INPP5E-related Joubert syndrome. | Am J Med Genet A | 2017 |
| 29136352 | Cover Image, Volume 173A, Number 12, December 2017. | Am J Med Genet A | 2017 |
| 26562225 | Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. | Genet Med | 2016 |
| 24784157 | The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. | Genet Med | 2014 |
| 22237431 | The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. | Genet Med | 2012 |
| 22749184 | Neurotransmitter abnormalities and response to supplementation in SPG11. | Mol Genet Metab | 2012 |
| 12949593 | Development of the breast cancer education and risk assessment program. | Oncol Nurs Forum | 2003 |
| 15022973 | The role of estrogens in BRCA1/2 mutation carriers: reflections on the past, issues for the future. | Cancer Nurs | 2003 |