Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
To identify genes associated with either adult BMI or T2D risk, we performed association testing using WGS data…
Whole-exome sequencing analysis identifies risk genes for schizophrenia
Lally, J. & MacCabe, J. H. Antipsychotic medication in schizophrenia: a review. Br. Med. Bull. 114, 169–179 (2015).…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
Branching out: Tomato genes point to new medicines
The Takeaway CSHL’s Lippman and McCandlish labs have discovered how interactions between cryptic genetic mutations can increase or…
Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
Review of 40 genes causing congenital myasthenic syndromes
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes…
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a condition that in recent years has slowly but surely shifted its position…
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene
Artificial Intelligence in genetic medicine offers great potential for improving diagnosis and treatment. However, sustainable AI implementation in…