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
Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics
Mol Aspects Med. 2022 Nov 18:101153. doi: 10.1016/j.mam.2022.101153. Online ahead of print. ABSTRACT Precision medicine strives for highly individualized treatments for disease under the notion that each individual’s unique genetic makeup and environmental exposures imprints upon them not only a disposition to illness, but also an optimal therapeutic approach. In the realm of rare disorders, […]
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
J Pers Med. 2022 Nov 18;12(11):1924. doi: 10.3390/jpm12111924. ABSTRACT Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to […]
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Genet Med. 2022 Nov 17:S1098-3600(22)00954-6. doi: 10.1016/j.gim.2022.09.016. Online ahead of print. ABSTRACT PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, […]
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Mol Psychiatry. 2022 Nov 16. doi: 10.1038/s41380-022-01852-9. Online ahead of print. ABSTRACT Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public […]