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Author Details

Monica H Wojcik
Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
2010
81
18
PMIDPaper TitleJournal TitlePublished Year
36261504ECI Biocommentary: Monica Hsiung Wojcik.Pediatr Res2023
37963460Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.Am J Hum Genet2023
37517917Advancing Understanding of Inequities in Rare Disease Genomics.Clin Ther2023
37695592The Role of Genetic Testing for Short Stature Now and in the Future.JAMA Pediatr2023
37541186Beyond the exome: What's next in diagnostic testing for Mendelian conditions.Am J Hum Genet2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
35750755A model to implement genomic medicine in the neonatal intensive care unit.J Perinatol2023
37425688Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.medRxiv2023
37422715Provision and availability of genomic medicine services in Level IV neonatal intensive care units.Genet Med2023
37183572Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.Am J Med Genet A2023
37382598Correspondence 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.Genet Med2023
36975850Implications of Genomic Newborn Screening for Infant Mortality.Int J Neonatal Screen2023
37340830Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome.Birth Defects Res2023
37034709Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.medRxiv2023
37230770Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure.Cold Spring Harb Mol Case Stud2023
37034593Advancing Understanding of Inequities in Rare Disease Genomics.medRxiv2023
37332751The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths.Front Med (Lausanne)2023
36860143AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.Mol Genet Genomic Med2023
36521640Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021.Genet Med2023
36587011Trisomy 13: Survival beyond the NICU.Neoreviews2023
36747006The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.Eur J Hum Genet2023
36713248Beyond the exome: what's next in diagnostic testing for Mendelian conditions.ArXiv2023
36800428Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.Sci Adv2023
36795492Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.J Clin Invest2023
35963884Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.Pediatr Res2023
36355221Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"Hum Genet2023
34584196Mortality in the neonatal intensive care unit: improving the accuracy of death reporting.J Perinatol2022
35840043Care Intensity and Palliative Care in Chronically Critically Ill Infants.J Pain Symptom Manage2022
35768521A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.Eur J Hum Genet2022
35780509Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care.Clin Chem2022
36910592Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Adv Genet (Hoboken)2022
36064943Integrating rapid exome sequencing into NICU clinical care after a pilot research study.NPJ Genom Med2022
35916015Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.J Genet Couns2022
35254387Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.JAMA Neurol2022
35129617Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants.JAMA Pediatr2022
35094443Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.Hum Mutat2022
35037400Delayed diagnosis and racial bias in children with genetic conditions.Am J Med Genet A2022
34970667Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome.Neoreviews2022
35304021Perspectives of United States neonatologists on genetic testing practices.Genet Med2022
32932427The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?Pediatr Res2021
33602924POLRMT mutations impair mitochondrial transcription causing neurological disease.Nat Commun2021
33941880Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.Genet Med2021
34059898Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly.Clin Chem2021
34314210The Unrecognized Mortality Burden of Genetic Disorders in Infancy.Am J Public Health2021
34369642Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.Am J Med Genet A2021
33037779Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.Am J Med Genet A2021
31048081PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.Eur J Med Genet2020
31780822Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Genet Med2020
32022462Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.Mol Genet Genomic Med2020
32094481Genetic diagnosis in the fetus.J Perinatol2020
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Collaborators

Broad Institute of MIT and Harvard
Co-authored papers 27
Boston Children's Hospital
Co-authored papers 10
Broad Institute of MIT and Harvard
Co-authored papers 10
Boston Children's Hospital
Co-authored papers 6
Harvard Medical School.
Co-authored papers 5
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Co-authored papers 5
Harvard Medical School
Co-authored papers 5
Co-authored papers 4
Boston Children's Hospital, Harvard Medical School
Co-authored papers 4
Harvard Medical School
Co-authored papers 4
Murdoch Children's Research Institute
Co-authored papers 3
Institute of Neurology, University College London (UCL)
Co-authored papers 3
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Co-authored papers 3
Nationwide Children's Hospital
Co-authored papers 3
Boston Children's Hospital, Harvard Medical School
Co-authored papers 3
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Co-authored papers 2
Stanford University School of Medicine
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
University of Washington
Co-authored papers 2
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Baylor College of Medicine
Co-authored papers 2
Stanford University
Co-authored papers 2
University College Dublin
Co-authored papers 2
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Brotman Baty Institute for Precision Medicine, University of Washington
Co-authored papers 2
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University of California
Co-authored papers 2