Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Nat Genet. 2023 Jan 12. doi: 10.1038/s41588-022-01276-9. Online ahead of print. ABSTRACT Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain […]
Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study
Genes (Basel). 2023 Jan 9;14(1):180. doi: 10.3390/genes14010180. ABSTRACT Conotruncal heart defects (CTDs) are heart malformations that affect the cardiac outflow tract and typically cause significant morbidity and mortality. Evidence from epidemiological studies suggests that maternal folate intake is associated with a reduced risk of heart defects, including CTD. However, it is unclear if folate-related gene […]
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer
Children. 2023; 10(1):106. https://doi.org/10.3390/children10010106 ABSTRACT The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan’s Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to […]
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Nat Biotechnol. 2023 Jan 2. doi: 10.1038/s41587-022-01559-w. Online ahead of print. ABSTRACT Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and autism. The detection of noncancer MVs has been computationally challenging due to the sparse representation of nonclonally expanded MVs. Here we […]
Rapid genome sequencing identifies novel variants in complement factor I
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006239. doi: 10.1101/mcs.a006239. Print 2022 Dec. ABSTRACT Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent […]
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3. NO ABSTRACT PMID:36528660 DOI:10.1186/s13023-022-02592-3
Current studies and future directions for medulloblastoma: A review from the pacific pediatric neuro-oncology consortium (PNOC) disease working group
Neoplasia. 2022 Dec 11;35:100861. doi: 10.1016/j.neo.2022.100861. Online ahead of print. NO ABSTRACT PMID:36516489 DOI:10.1016/j.neo.2022.100861
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
Brain. 2022 Dec 8:awac461. doi: 10.1093/brain/awac461. Online ahead of print. NO ABSTRACT PMID:36477332 DOI:10.1093/brain/awac461
Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities
BMC Health Serv Res. 2022 Dec 6;22(1):1486. doi: 10.1186/s12913-022-08879-2. NO ABSTRACT PMID:36474257 DOI:10.1186/s12913-022-08879-2
Characterization of an RNA binding protein interactome reveals a context-specific post-transcriptional landscape of MYC-amplified medulloblastoma
Nat Commun. 2022 Dec 6;13(1):7506. doi: 10.1038/s41467-022-35118-3. NO ABSTRACT PMID:36473869 DOI:10.1038/s41467-022-35118-3