Monica H. Wojcik
A5000401192- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Congenital heart defects research
- RNA modifications and cancer
- Neonatal Respiratory Health Research
- Ethics and Legal Issues in Pediatric Healthcare
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Congenital Heart Disease Studies
- Congenital Diaphragmatic Hernia Studies
- Autopsy Techniques and Outcomes
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- Fetal and Pediatric Neurological Disorders
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Neuroscience of respiration and sleep
- RNA regulation and disease
- Diet and metabolism studies
Broad Institute
2017-2025
Massachusetts Institute of Technology
2025
Broad Center
2022-2025
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2018-2025
Harvard University
2011-2025
Boston Children's Hospital
2017-2025
Institut thématique Génétique, génomique et bioinformatique
2017-2024
University College London
2024
SickKids Foundation
2024
Hospital for Sick Children
2024
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly a negative evaluation, remains poorly defined.
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Abstract Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy 200 families who had experienced fetal or newborn death, providing a definitive candidate genetic diagnosis in 105 Our cohort provides evidence of severe atypical utero presentations known disorders identifies novel phenotypes disease genes. Inheritance 42% diagnoses were either autosomal recessive (30.8%), X-linked (3.8%) dominant (excluding de...
Pathogenic variants in the chromatin organizer CTCF were previously reported seven individuals with a neurodevelopmental disorder (NDD).Through international collaboration we collected data from 39 subjects CTCF. We performed transcriptome analysis on RNA blood samples and utilized Drosophila melanogaster to investigate impact of Ctcf dosage alteration nervous system development function.The our cohort carried 2 deletions, 8 likely gene-disruptive, splice-site, 20 different missense...
Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving pre-mRNA at poly(A) sites that can lie within 3′ untranslated region (3′UTR), introns, or exons. Most studies focus on APA 3′UTR; however, here, we show CPSF6 insufficiency alters protein levels and causes a developmental syndrome deregulating throughout transcript. In neonatal humans zebrafish larvae, shifts site usage between 3′UTR internal in pathway-specific manner. Genes associated with...
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify RNA RNU4-2 as a novel syndromic NDD gene. encodes U4 small nuclear (snRNA), which is critical component U4/U6.U5 tri-snRNP complex major spliceosome 2 We an 18 bp region mapping two...
X‐linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O ‐GlcNAc transferase encoded by OGT , a recently discovered XLID gene, attaches to nuclear and cytoplasmic proteins. As few missense mutations have been described, it is unclear what the aetiology of patient phenotypes is. Here, we report discovery mutation in catalytic domain an patient. X‐ray crystallography reveals that this variant leads structural rearrangements domain. reduces vitro activity on...
Abstract While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no phenotypes associated with POLRMT, RNA responsible for transcription of genome. Here, we characterise clinical and molecular nature POLRMT eight individuals from seven unrelated families. Patients present global developmental delay, hypotonia, short stature, speech/intellectual disability childhood; one subject displayed an indolent progressive external ophthalmoplegia...
PurposeDespite a few recent reports of patients harboring truncating variants in NSD2, gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, clinical spectrum associated with NSD2 pathogenic remains poorly understood.MethodsWe collected comprehensive series 18 unpublished carrying heterozygous missense, elongating, or variants; compared their data to typical WHS phenotype after pooling them ten previously described patients; and assessed underlying molecular mechanism by...
As more therapeutics for genetic conditions become available, the need timely and equitable diagnosis has urgent. Using clinical cases, we consider health system-, provider-, patient-level factors that contribute to delayed of in pediatric patients from minority populations, leading disparities between racial groups. We then provide suggestions address these factors, with aim improving access care all children.