Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation
J Clin Immunol. 2021 Apr 14. doi: 10.1007/s10875-021-01035-1. Online ahead of print. ABSTRACT PURPOSE: IKAROS, encoded by IKZF1, is a member of the IKAROS family of zinc-finger transcription factors playing critical roles in lymphocyte development, differentiation, and tumor suppression. Several studies demonstrated that IKZF1 mutations affecting DNA binding or homo-/hetero-dimerization are mostly associated with common […]
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
Eur J Hum Genet. 2021 Apr 6. doi: 10.1038/s41431-021-00832-x. Online ahead of print. ABSTRACT HEAT repeats are 37-47 amino acid flexible tandem repeat structural motifs occurring in a wide variety of eukaryotic proteins with diverse functions. Due to their ability to undergo elastic conformational changes, they often serve as scaffolds at sites of protein interactions. […]
Comprehensive identification of somatic nucleotide variants in human brain tissue
Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3. ABSTRACT BACKGROUND: Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosaic variants in DNA from non-cancerous somatic tissues poses significant challenges, particularly if the variants only are […]
Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections
Open Forum Infect Dis. 2021 Mar 6;8(6):ofab104. doi: 10.1093/ofid/ofab104. eCollection 2021 Jun. ABSTRACT BACKGROUND: Pediatric central nervous system (CNS) infections are potentially life-threatening and may incur significant morbidity. Identifying a pathogen is important, both in terms of guiding therapeutic management and in characterizing prognosis. Usual care testing by culture and polymerase chain reaction is often […]
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Genet Med. 2021 Mar 8. doi: 10.1038/s41436-020-01090-w. Online ahead of print. PMID:33686260 | DOI:10.1038/s41436-020-01090-w
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach
PLoS Genet. 2021 Mar 8;17(3):e1009413. doi: 10.1371/journal.pgen.1009413. eCollection 2021 Mar. ABSTRACT Previous research on risk factors for obstructive heart defects (OHDs) focused on maternal and infant genetic variants, prenatal environmental exposures, and their potential interaction effects. Less is known about the role of paternal genetic variants or environmental exposures and risk of OHDs. We examined […]
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1. NO ABSTRACT PMID:33589599 | PMC:PMC7884391 | DOI:10.1038/s41467-021-21448-1
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study
JAMA Pediatr. 2021 Feb 15:e205906. doi: 10.1001/jamapediatrics.2020.5906. Online ahead of print. ABSTRACT IMPORTANCE: A targeted genomic sequencing platform focused on diseases presenting in the first year of life may minimize financial and ethical challenges associated with rapid whole-genomic sequencing. OBJECTIVE: To report interim variants and associated interpretations of an ongoing study comparing rapid whole-genomic sequencing […]
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration
Sci Rep. 2021 Feb 11;11(1):3639. doi: 10.1038/s41598-021-83058-7. ABSTRACT Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and environmental factors contribute to disease risk but the mechanism is unclear. This study examined 506 MMC subjects for ultra-rare deleterious variants (URDVs, absent in […]
Emergence of an early SARS-CoV-2 epidemic in the United States
medRxiv [Preprint]. 2021 Feb 8:2021.02.05.21251235. doi: 10.1101/2021.02.05.21251235. PMID: 33564781; PMCID: PMC7872376. Abstract The emergence of the early COVID-19 epidemic in the United States (U.S.) went largely undetected, due to a lack of adequate testing and mitigation efforts. The city of New Orleans, Louisiana experienced one of the earliest and fastest accelerating outbreaks, coinciding with the […]