Monica H. Wojcik

Also affiliated with Boston Children's Hospital, Harvard University, Broad Center, Center for Systems Biology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 4%percentile

0.654Author DataRank

Indexed papers

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9

Top 48%

0.373DataRank

Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Papers

Driven by 50 papers — median percentile 48. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Science Advances(2023)10.1126/sciadv.ade4814

N/A

1.0DataRank · unranked

34 citations

Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang +29 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0.691DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0.489DataRank · unranked

25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Perspectives of United States neonatologists on genetic testing practices

Genetics in Medicine(2022)10.1016/j.gim.2022.02.009

N/A

0.464DataRank · unranked

21 citations

Maya C. del Rosario, Pankaj B. Agrawal, Monica H. Wojcik

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9

Top 48%

0.373DataRank

Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

BMJ Open(2024)10.1136/bmjopen-2023-080529

N/A

0.334DataRank · unranked

6 citations

Sonia Hills, Jessica Douglas, Vanessa Young, Casie A. Genetti, Monica H. Wojcik +5 more

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101284

N/A

0.330DataRank · unranked

8 citations

Aparna Nathan, Hannah Park, Robert C. Green, Monica H. Wojcik, Nina B. Gold +1 more

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

Advanced Genetics(2022)10.1002/ggn2.202200012

Top 57%

0.281DataRank

Top 57%4 citations

Élise Douard, Robin L. Haynes, Hyun Yong Koh, Alireza Haghighi, Christine Keywan +10 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

European Journal of Human Genetics(2022)10.1038/s41431-022-01137-3

N/A

0DataRank · unranked

18 citations

Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao +5 more

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human Mutation(2022)10.1002/humu.24332

N/A

0DataRank · unranked

16 citations

Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian +19 more

A model to implement genomic medicine in the neonatal intensive care unit

Journal of Perinatology(2022)10.1038/s41372-022-01428-z

N/A

0DataRank · unranked

16 citations

Alissa M. D’Gama, Pankaj B. Agrawal, Monica H. Wojcik

Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome

Journal of Genetic Counseling(2022)10.1002/jgc4.1616

N/A

0DataRank · unranked

2 citations

Julie M. Briere, Kristen T. Leeman, Monica H. Wojcik, Pankaj B. Agrawal, Tian Zhang

Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care

Clinical Chemistry(2022)10.1093/clinchem/hvac080

N/A

0DataRank · unranked

1 citations

Monica H. Wojcik

A novel syndrome associated with prenatal fentanyl exposure

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100834

N/A

0DataRank · unranked

30 citations

Erica Fernandes, Candace Muss, Nina Powell‐Hamilton, Monica H. Wojcik, Jill A. Madden +9 more

Advancing Understanding of Inequities in Rare Disease Genomics

Clinical Therapeutics(2023)10.1016/j.clinthera.2023.06.010

N/A

0DataRank · unranked

22 citations

Melanie O’Leary, Grace E. VanNoy, Brian Mangilog, Ingrid A. Holm, Yarden S. Fraiman +4 more

Provision and availability of genomic medicine services in Level IV neonatal intensive care units

Genetics in Medicine(2023)10.1016/j.gim.2023.100926

N/A

0DataRank · unranked

18 citations

Katharine Press Callahan, Austin Antoniou, Maya C. del Rosario, Luca Brunelli, Nahed O. ElHassan +8 more

Implications of Genomic Newborn Screening for Infant Mortality

International Journal of Neonatal Screening(2023)10.3390/ijns9010012

N/A

0DataRank · unranked

12 citations

Nina B. Gold, Monica H. Wojcik

Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome

Birth Defects Research(2023)10.1002/bdr2.2212

N/A

0DataRank · unranked

4 citations

Laura Tannenbaum, John P. O’Neill, Christy L. Cummings, Monica H. Wojcik, Jacklyn Omorodion

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Perinatal-lethal nonimmune fetal hydrops attributed toMECOM-associated bone marrow failure

Molecular Case Studies(2023)10.1101/mcs.a006289

N/A

0DataRank · unranked

3 citations

Jill A. Madden, Christy L. Cummings, Melissa J. Rose, S. Wilson, Mari Mori +4 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

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

Genetics in Medicine(2023)10.1016/j.gim.2023.100904

N/A

0DataRank · unranked

0 citations

Kathryn J. Gray, Siddharth K. Prakash, Monica H. Wojcik, Angela E. Lin, Fowzan S. Alkuraya

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs

Genetics in Medicine(2024)10.1016/j.gim.2024.101177

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Sonia Hills, Jessica Douglas, Pankaj B. Agrawal, Tyler Allcroft +26 more

Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit

Prenatal Diagnosis(2024)10.1002/pd.6710

N/A

0DataRank · unranked

5 citations

Malika Sud, Alissa M. D’Gama, Tabitha Poorvu, Judy A. Estroff, Monica H. Wojcik +1 more

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

Journal of Perinatology(2024)10.1038/s41372-024-01935-1

N/A

0DataRank · unranked

5 citations

Tina O. Findley, Rachel Hu, Zahra Khazal, Rachel Signorello, Camille Dash +6 more

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants

PEDIATRICS(2024)10.1542/peds.2024-068197

N/A

0DataRank · unranked

3 citations

Maya C. del Rosario, Henry A. Feldman, Hadley Stevens Smith, Ingrid A. Holm, Monica H. Wojcik

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants

medRxiv(2024)10.1101/2024.06.29.24309646

N/A

0DataRank · unranked

0 citations

Maya C. del Rosario, Henry A. Feldman, Hadley Stevens Smith, Ingrid A. Holm, Monica H. Wojcik

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103490

N/A

0DataRank · unranked

1 citations

Maya del Rosario, Ingrid A. Holm, Monica H. Wojcik, Siwaar Abouhala

Managing the Uncertainty of “Precision” While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates

Children(2025)10.3390/children13010034

N/A

0DataRank · unranked

1 citations

Katharine Press Callahan, Bimal P. Chaudhari, Elliott Mark Weiss, Monica H. Wojcik, Krishna Acharya +4 more

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

medRxiv(2025)10.1101/2025.11.07.25339764

N/A

0DataRank · unranked

3 citations

Adriana E. Sedeño-Cortés, Jane Ranchalis, Katherine M. Munson, Mitchell R. Vollger, Elsa Balton +15 more

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Research Square(2025)10.21203/rs.3.rs-5811417/v1

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Non‐Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64087

N/A

0DataRank · unranked

0 citations

Michael S. Gordon, Bradley D. Holbrook, Olivia Maher Trocki, Tabitha Poorvu, Christina Miller +7 more

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

Molecular Genetics and Metabolism Reports(2025)10.1016/j.ymgmr.2025.101223

N/A

0DataRank · unranked

0 citations

Muhammad Zain-Ul-Abideen, Genevieve G. Guyol, Lance H. Rodan, Casie A. Genetti, Ainong Ren +7 more

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100468

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis

Seminars in Perinatology(2025)10.1016/j.semperi.2025.152110

N/A

0DataRank · unranked

2 citations

Kristen Fishler Malone, Hadley Stevens Smith, Bimal P. Chaudhari, Monica H. Wojcik, Kaiulani S Shulman

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Human Molecular Genetics(2020)10.1093/hmg/ddaa051

N/A

0DataRank · unranked

9 citations

Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik +23 more

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 more

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

Kidney International Reports(2020)10.1016/j.ekir.2020.05.008

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Casie A. Genetti, Thomas E. Mullen, Pankaj B. Agrawal, Deborah R. Stein +1 more

POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature Communications(2021)10.1038/s41467-021-21279-0

N/A

0DataRank · unranked

60 citations

Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville +34 more

Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62450

N/A

0DataRank · unranked

14 citations

Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf A. Bodamer, Pankaj B. Agrawal +3 more

Mortality in the neonatal intensive care unit: improving the accuracy of death reporting

Journal of Perinatology(2021)10.1038/s41372-021-01214-3

N/A

0DataRank · unranked

3 citations

Jenny Chan Yuen, Anne Hansen, Kristen T. Leeman, Monica H. Wojcik

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA Neurology(2022)10.1001/jamaneurol.2022.0067

N/A

0DataRank · unranked

39 citations

John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik +12 more

Delayed diagnosis and racial bias in children with genetic conditions

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62626

N/A

0DataRank · unranked

29 citations

Leah Dowsett, Robin D. Clark, Jamie L. Fraser, Aya Abu‐El‐Haija, Alanna Strong +4 more

Care Intensity and Palliative Care in Chronically Critically Ill Infants

Journal of Pain and Symptom Management(2022)10.1016/j.jpainsymman.2022.07.002

N/A

0DataRank · unranked

23 citations

Emanuele Mazzola, Jeanne MacDonald, Simon M. Manning, Leah Beight, Erin R. Currie +3 more

Monica H. Wojcik

Indexed papers

Top data-sharing exemplar

Papers