Andrea Gropman

Also affiliated with Children's National

Biochemistry, Genetics and Molecular Biology

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 2%percentile

2.9Author 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.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402

Top 11%

2.0DataRank

Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Papers

Driven by 37 papers — median percentile 65. Top paper: “Mitochondrial diseases in North America”.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402

Top 11%

2.0DataRank

Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035

Top 35%

0.557DataRank

Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3

Top 48%

0.373DataRank

Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

SAGE Open Medicine(2024)10.1177/20503121241282401

N/A

0.313DataRank · unranked

6 citations

Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi J. Hagerman +18 more

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.013

N/A

0DataRank · unranked

29 citations

Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea Gropman, Sandesh C.S. Nagamani +7 more

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

Human Mutation(2020)10.1002/humu.23983

N/A

0DataRank · unranked

26 citations

Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C.S. Nagamani, Andrea Gropman +29 more

Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome”

Ophthalmic Genetics(2020)10.1080/13816810.2020.1832295

N/A

0DataRank · unranked

0 citations

Robert B. Hufnagel, Delphine Blain, Andrea Gropman, Brian P. Brooks, Julia Chertkof

Fifteen years of urea cycle disorders brain research: Looking back, looking forward

Analytical Biochemistry(2021)10.1016/j.ab.2021.114343

N/A

0DataRank · unranked

38 citations

Matthew T. Whitehead, Carlos Castillo, Ljubica Caldovic, Andrea Gropman, Kuntal Sen

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

Frontiers in Neurology(2021)10.3389/fneur.2021.632307

N/A

0DataRank · unranked

31 citations

Afrouz Anderson, Matthew T. Whitehead, Andrea Gropman, Kuntal Sen

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

International Journal of Neonatal Screening(2021)10.3390/ijns7040076

N/A

0DataRank · unranked

7 citations

Jennifer Harmon, Andrea Gropman, Kuntal Sen

Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother

European Journal of Paediatric Neurology(2021)10.1016/j.ejpn.2021.01.006

N/A

0DataRank · unranked

4 citations

George Grahame, Jirair K. Bedoyan, Andrea Gropman, Kuntal Sen

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Ophthalmic Genetics(2021)10.1080/13816810.2021.1888127

N/A

0DataRank · unranked

4 citations

Robert B. Hufnagel, Bin Guan, Delphine Blain, Julie C. Sapp, Andrea Gropman +5 more

Integrated Proteomic and Metabolomic Analyses of the Mitochondrial Neurodegenerative Disease MELAS

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.18.473301

N/A

0DataRank · unranked

0 citations

Martine Uittenbogaard, Ryan Navarro, Mustafa Ahmed, Andrea Gropman, Anne Chiaramello +2 more

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51668

N/A

0DataRank · unranked

25 citations

Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck +7 more

Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases

Therapeutic Innovation & Regulatory Science(2022)10.1007/s43441-022-00409-w

N/A

0DataRank · unranked

30 citations

Ralph Bax, Alysha Croker, Dionna Green, Andrea Gropman, Ágnes Klein +10 more

The functional impact of 1,570 individual amino acid substitutions in human OTC

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.019

N/A

0DataRank · unranked

23 citations

Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr +7 more

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Genetics in Medicine(2023)10.1016/j.gim.2023.101039

N/A

0DataRank · unranked

12 citations

Sven F. Garbade, Florian Gleich, Svenja Scharré, Jürgen G. Okun, Andrea Gropman +54 more

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108112

N/A

0DataRank · unranked

6 citations

Sven F. Garbade, Florian Gleich, Sandesh C.S. Nagamani, Andrea Gropman, Friederike Epp +31 more

Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency

Preprints.org(2023)10.20944/preprints202312.1253.v1

N/A

0DataRank · unranked

1 citations

Andrea Gropman, Matthew T. Whitehead, Christine A. Brantner, Eliana Gropman, Anne Chiaramello +1 more

Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine

Neurotherapeutics(2024)10.1016/j.neurot.2023.e00311

N/A

0DataRank · unranked

18 citations

Martine Uittenbogaard, Anne Chiaramello, Andrea Gropman

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Molecular Genetics & Genomic Medicine(2024)10.1002/mgg3.2443

N/A

0DataRank · unranked

12 citations

Rima Izem, Yuelin Long, Jiji Jiang, Laura Konczal, Robert McCarter +3 more

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.06.013

N/A

0DataRank · unranked

4 citations

John M. Schreiber, Wei-Liang Chen, John R. Barber, Anqing Zhang, Nicholas Ah Mew +5 more

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108363

N/A

0DataRank · unranked

11 citations

Mariarita Bertoldi, Nenad Blau, Melissa L. DiBacco, Sarah H. Elsea, Àngels García‐Cazorla +19 more

Ophthalmic manifestations of NAA10 ‐related and NAA15 ‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63821

N/A

0DataRank · unranked

6 citations

Agnes Park, Elaine Marchi, Andrea Gropman, Matthew T. Whitehead, Gholson J. Lyon +1 more

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108566

N/A

0DataRank · unranked

3 citations

Stefan Kölker, Sven F. Garbade, Florian Gleich, Sandesh C. Sreenath Nagamani, Andrea Gropman +27 more

Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors

medRxiv(2024)10.1101/2024.02.01.24302161

N/A

0DataRank · unranked

6 citations

Agnes Park, Elaine Marchi, Andrea Gropman, Matthew T. Whitehead, Gholson J. Lyon +1 more

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes

medRxiv(2024)10.1101/2024.06.24.24309433

N/A

0DataRank · unranked

4 citations

Rikhil Makwana, Carolina Christ, Elaine Marchi, Nathaniel Ung, Randie Harpell +5 more

Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.04.007

N/A

0DataRank · unranked

0 citations

Steven A. Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman +2 more

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103437

N/A

0DataRank · unranked

1 citations

Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin +37 more

Growth Standards for Children With Smith–Magenis Syndrome ( SMS )

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64167

N/A

0DataRank · unranked

0 citations

John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard +6 more

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Scientific Reports(2020)10.1038/s41598-020-67496-3

N/A

0DataRank · unranked

19 citations

Sven F. Garbade, Florian Gleich, Andrea Gropman, Pascale de Lonlay, Georg F. Hoffmann +58 more

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61542

N/A

0DataRank · unranked

8 citations

Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley +7 more

Retinoschisis associated with Kearns-Sayre syndrome

Ophthalmic Genetics(2020)10.1080/13816810.2020.1799416

N/A

0DataRank · unranked

8 citations

Robert B. Hufnagel, Delphine Blain, Andrea Gropman, Brian P. Brooks, Julia Chertkof

Andrea Gropman

Indexed papers

Top data-sharing exemplar

Papers