Letter, Bloomberg Distinguished Professor Jeff Coller discussed his research on the development of a new experimental protein ...

The myelodysplastic syndromes (MDS) are disorders of the haematopoietic stem cells in the bone marrow, that result in a decreased production of blood cells. MDS mainly affects patients aged 70 and ...

Rady study uses PacBio long-read sequencing for RFX3 variant in adolescent patient with autism, showcasing clinical genomics ...

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, ...

With over 300 known haploinsufficiency disorders, these conditions pose significant challenges for therapies due to the critical need to produce exact protein levels. Writing in Molecular Therapy ...

In a manuscript published today in the American Journal of Psychiatry titled "Long-Read Genome Sequencing in Clinical ...

To investigate these interactions, we conducted a study using BMAL1-haplodeficient mice (BMAL1 +/−). Conclusion: These findings highlight that BMAL1 haploinsufficiency leads to deficits in fear ...

were used (Fredriks et al., 2000). In this report we describe two individuals with overlapping clinical features due to FOXC1 haploinsufficiency: one with a complex rearrangement in the FOXC1 locus ...

The American Journal of Psychiatry is a monthly peer-reviewed medical journal covering all aspects of psychiatry and the official journal of the American Psychiatric Association. The first volume ...