Next-generation sequencing has enabled precision therapeutic approaches that have improved the lives of children with rare diseases. Congenital diarrhea and enteropathies (CODEs) are associated ...

This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when ...

Chronic spontaneous urticaria is an idiopathic syndrome defined by recurring itch, hives, or angioedema (or a combination of these symptoms) for more than 6 weeks. Remibrutinib, an oral, highly ...

Decades of strict sentencing laws, the racially motivated “War on Drugs,” and simultaneous erosion of community mental health and social services have contributed to the American public health ...

Currently licensed and approved malaria subunit vaccines provide modest, short-lived protection against malaria. Immunization with live-attenuated Plasmodium falciparum malaria parasites is an ...

EBV is one of the most successful viruses, infecting over 90 percent of humans and persisting for the lifetime of the person. EBV is closely related to viruses present in Old World nonhuman ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Many of the challenges we address here were evident to the pioneers of medical decision analysis of the 1950s 7 and to scholars in subsequent decades 8-11 who conducted careful and creative ...

We and others identified retinoblastoma features that suggested that the tumors originate in long- and medium-wavelength cone precursors, and we discovered features of these cone precursors that ...

This review article presents two true-life clinical vignettes that illustrate how digital health technology can aid providers caring for patients with epilepsy. Specific information that would ...

New methods such as genomic sequencing and mass spectrometry have prompted dramatic increases in the amount of molecular data available to scientists and health care professionals seeking more ...

Cutaneous squamous-cell carcinoma accounts for 20% of all cutaneous cancers. 1 The incidence over the past several decades has been increasing worldwide among White populations, an increase that ...