Monica H. Wojcik - Concepedia

Author

Monica H. Wojcik

Also Known As

Adam D. Kennedy, Harry Zhou, Jordan C. Wood, Karit Reinson, Klaas J. Wierenga, M Wójcik, M. H. Wojcik, M. Wojcik, Monica H Wojcik, Monica H. Wojcik

167

Publications

3.4K

Citations

H-Index

105

Concepts

All Affiliations

Boston Children's Hospital Harvard University Broad Institute Massachusetts General Hospital University of Tartu

About

Monica H. Wojcik is an author at Boston Children's Hospital specializing in medicine, pediatrics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	20	28	1K
2	Public Health	6	6	194
3	Education	1	1	83
4	Engineering	1	1	24
5	Health Sciences	1	1	15

Monica H. Wojcik

Publications

Citations

H-Index

Page 1

	Year	Citations
Monogenic variants in dystonia: an exome-wide sequencing study Michael Zech, Robert Jech, Sylvia Boesch, The Lancet Neurology Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants	2020	206
Genome Sequencing for Diagnosing Rare Diseases Monica H. Wojcik, Gabrielle Lemire, Eva Berger, New England Journal of Medicine	2024	144
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Genetics in Medicine Phenotype-driven SelectionNewborn ScreeningSequencingNeonatologyFunctional Genomics	2019	118
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Nature	2024	93
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities Monica H. Wojcik, Talia S. Schwartz, Inbar Yamin, Genetics in Medicine Clinical Genetic DisordersEarly Life ExposureGenetic DisorderEarly Childhood DevelopmentGenetic Epidemiology	2018	83
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project Monica H. Wojcik, Tian Zhang, Ozge Ceyhan‐Birsoy, Genetics in Medicine Newborn ScreeningNeonatal GenomicsSequencingConventional Newborn ScreeningMedicine	2021	82
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia Claire Guissart, Xénia Latypova, Paul Rollier, The American Journal of Human Genetics Molecular NeuroscienceNeurological DisorderGenetic DisorderGeneticsSyndromic Autism	2018	81
Infant mortality: the contribution of genetic disorders Monica H. Wojcik, Talia S. Schwartz, Katri Thiele, Journal of Perinatology Pediatric EpidemiologyGenetic EpidemiologyPediatricsPreterm BirthPublic Health	2019	76
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes Klaus Schmitz‐Abe, Qifei Li, Samantha M. Rosen, European Journal of Human Genetics Comprehensive ReanalysisMedicineDiagnostic TestProteomicsDiagnosis	2019	73
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Genetics in Medicine	2019	67

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