Jonathan Stephens

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations

William Rae, John M. Sowerby, Dorit Verhoeven, Mariam Youssef et autres

Tumor necrosis factor receptor-associated factor 3 (TRAF3) is a central regulator of immunity. TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity is not defined. Here, in five unrelated families, we describe an immune dysregulation syndrome …

gb, nl, ca, us, Soudan du Sud, vn, mx (code pays fourni par la source)

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte, Minka De Vries et autres

A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analytic sensitivity and reproducibility, and variant interpretation by a …

gb, nl, at, be, Soudan du Sud (code pays fourni par la source)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Yoko Itō, Keren Carss, Sofia Temudo Duarte, Taila Hartley et autres

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) …

ca, gb, pt, fr, nl (code pays fourni par la source)

Limited jaw opening

Doron Ringler, Jonathan Stephens, George A. Levine, Sidney B. Eisig

us (code pays fourni par la source)

Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Laura M. Huckins, Vesna Boraska, Chris Tyler-Smith, M. Forzan et autres

Huckins, Laura M.; Boraska, Vesna; Franklin, Christopher S.; Floyd, James A. B.; Southam, Lorraine; GCAN; WTCCC3; Sullivan, Patrick F.; Bulik, Cynthia; Collier, David A.; Tyler-Smith, Chris; Zeggini, Eleftheria; Tachmazidou, Ioanna; GCAN; WTCCC3; Boraska, V.; Franklin, C. S.; Floyd, J. A. B.; Thornton, …

Rule of Beliefs: Constitutional Conventions and the Rule of Law

Jonathan Stephens

The concept of the rule of law and not individuals has been the subject of much debate as to what it is, which states have it (or how strongly they have it) and how to encourage its development in those states that …

au (code pays fourni par la source)

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Jeffrey C. Barrett, Carl A. Anderson, Panos Deloukas, Cordelia Langford et autres

gb, us, au, ie (code pays fourni par la source)

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Cristen J. Willer, Anne Jackson, Laura J. Scott, Heather M. Stringham et autres

us, gb, nl, se, de, fi, ch, it (code pays fourni par la source)

ISME Commission Reports

Jonathan Stephens