Monica Wojcik, MD, MPH
Attending Physician, Divisions of Newborn Medicine and Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
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Monica Wojcik, MD, MPH
Attending Physician, Divisions of Newborn Medicine and Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Princeton University
Princeton
NJ
Medical School
Harvard Medical School
Boston
MA
Internship
Pediatrics
Boston Combined Residency Program (BCRP)
Boston
MA
Residency
Pediatrics
Boston Combined Residency Program (BCRP)
Boston
MA
Fellowship
HMS Genetics Training Program and Harvard Neonatal-Perinatal Medicine
Boston
MA
Certifications
American Board of Pediatrics (General)
American Board of Pediatrics (Neonatal-Perinatal Medicine)
American Board of Medical Genetics and Genomics (Clinical Genetics)
Professional History
Dr. Wojcik is a neonatologist and clinical geneticist at Boston Children’s Hospital and an assistant professor in pediatrics at Harvard Medical School who specializes both clinically and academically in rare diseases affecting the fetus and neonate. Following her pediatric residency, she pursued combined fellowship training in both neonatology and genetics and subsequently obtained her Master of Public Health degree to augment her clinical effectiveness and health services research. She currently serves as the Director of the Neonatal Genomics Program at Boston Children’s Hospital and the Medical Director of the Manton Center for Orphan Disease Research. Dr. Wojcik’s research focuses on the application of genomic medicine in the perinatal setting, particularly related to genetic diagnosis.
Publications
Measurement of the 85Kr specific activity in the GERDA liquid argon. View Abstract
Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype. View Abstract
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. View Abstract
Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis. View Abstract
Rare disease narratives on social media: A content analysis. View Abstract
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. View Abstract
Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations. View Abstract
Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data. View Abstract
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. View Abstract
Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. View Abstract
Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics. View Abstract
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders. View Abstract
Searches for new physics below twice the electron mass with GERDA. View Abstract
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. View Abstract
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. View Abstract
Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. View Abstract
Genome Sequencing for Diagnosing Rare Diseases. View Abstract
"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. View Abstract
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. View Abstract
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. View Abstract
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. View Abstract
Sudden Unexplained Death in Childhood: Current Understanding. View Abstract
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. View Abstract
The Role of Genetic Testing for Short Stature Now and in the Future. View Abstract
Final Results of GERDA on the Two-Neutrino Double-ß Decay Half-Life of ^{76}Ge. View Abstract
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
A novel syndrome associated with prenatal fentanyl exposure. View Abstract
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. View Abstract
Beyond the exome: What's next in diagnostic testing for Mendelian conditions. View Abstract
Advancing Understanding of Inequities in Rare Disease Genomics. View Abstract
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. View Abstract
Provision and availability of genomic medicine services in Level IV neonatal intensive care units. View Abstract
Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al. View Abstract
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. View Abstract
Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome. View Abstract
The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. View Abstract
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. View Abstract
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans. View Abstract
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. View Abstract
Advancing Understanding of Inequities in Rare Disease Genomics. View Abstract
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. View Abstract
Implications of Genomic Newborn Screening for Infant Mortality. View Abstract
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. View Abstract
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. View Abstract
Beyond the exome: what's next in diagnostic testing for Mendelian conditions. View Abstract
Trisomy 13: Survival beyond the NICU. View Abstract
Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021. View Abstract
Re: "Next generation sequencing in neonatology: what does it mean for the next generation?" View Abstract
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. View Abstract
ECI Biocommentary: Monica Hsiung Wojcik. View Abstract
Integrating rapid exome sequencing into NICU clinical care after a pilot research study. View Abstract
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. View Abstract
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. View Abstract
Care Intensity and Palliative Care in Chronically Critically Ill Infants. View Abstract
Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care. View Abstract
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. View Abstract
A model to implement genomic medicine in the neonatal intensive care unit. View Abstract
Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants. View Abstract
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. View Abstract
Pulse shape analysis in Gerda Phase II. View Abstract
Perspectives of United States neonatologists on genetic testing practices. View Abstract
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. View Abstract
Delayed diagnosis and racial bias in children with genetic conditions. View Abstract
Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome. View Abstract
Mortality in the neonatal intensive care unit: improving the accuracy of death reporting. View Abstract
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. View Abstract
Calibration of the Gerda experiment. View Abstract
The Unrecognized Mortality Burden of Genetic Disorders in Infancy. View Abstract
Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs). View Abstract
Characterization of inverted coaxial 76 Ge detectors in GERDA for future double- ß decay experiments. View Abstract
Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. View Abstract
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. View Abstract
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. View Abstract
POLRMT mutations impair mitochondrial transcription causing neurological disease. View Abstract
Final Results of GERDA on the Search for Neutrinoless Double-ß Decay. View Abstract
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. View Abstract
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. View Abstract
Monogenic variants in dystonia: an exome-wide sequencing study. View Abstract
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. View Abstract
Deciphering congenital anomalies for the next generation. View Abstract
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? View Abstract
Genomic Insights into Stillbirth. View Abstract
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. View Abstract
Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. View Abstract
Developmental Support for Infants With Genetic Disorders. View Abstract
Prenatal Diagnosis of a Ventral Abdominal Wall Defect. View Abstract
Genetic diagnosis in the fetus. View Abstract
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. View Abstract
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. View Abstract
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. View Abstract
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. View Abstract
Infant mortality: the contribution of genetic disorders. View Abstract
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. View Abstract
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. View Abstract
Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. View Abstract
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. View Abstract
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. View Abstract
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. View Abstract
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. View Abstract
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. View Abstract
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. View Abstract
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. View Abstract
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. View Abstract
Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. View Abstract
Expanding the phenotypic spectrum associated with OPHN1 variants. View Abstract
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. View Abstract
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. View Abstract
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. View Abstract
Cover Image, Volume 173A, Number 8, August 2017. View Abstract
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. View Abstract
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. View Abstract
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. View Abstract
Insulin resistance in adolescents with Turner syndrome is comparable to obese peers, but the overall metabolic risk is lower due to unknown mechanism. View Abstract
A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose. View Abstract
Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa. View Abstract
Direct measurement of the 7Be solar neutrino flux with 192 days of borexino data. View Abstract