Adeline Vanderver

Also affiliated with University of Pennsylvania

MedicineBiochemistry, 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 7%percentile

0.104Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network ( RDCRN )

Clinical and Translational Science(2025)10.1111/cts.70340

Top 78%

0.104DataRank

Top 78%1 citations

Henry J. Kaminski, Adeline Vanderver, Michael Wagner, Eileen King, Maurizio Macaluso +1 more

Papers

Driven by 53 papers — median percentile 22. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

N/A

1.1DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Hematologic abnormalities in Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.003

N/A

0.701DataRank · unranked

18 citations

Francesco Gavazzi, Russell D’Aiello, David Isaacs, Nowa Bronner, Zehra Serap Arıcı +14 more

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12356

N/A

0.659DataRank · unranked

80 citations

Bela R. Turk, Helena Yan, Carrie Price, Michelle Demetres, Ann B. Moser +18 more

Development of a neurologic severity scale for Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.008

N/A

0.587DataRank · unranked

49 citations

Francesco Gavazzi, Abbas F. Jawad, Stacy V. Cusack, Kimberly Kopin, Kyle Peer +9 more

Phenotypic and Imaging Spectrum Associated With WDR45

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.03.005

N/A

0.571DataRank · unranked

44 citations

Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini +17 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

eLife(2020)10.7554/elife.52986

N/A

0.520DataRank · unranked

31 citations

Akshata A Almad, C. Alexander Boecker, Pedro Guedes-Dias, Jian J. Li, Asako Takanohashi +11 more

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108453

N/A

0.489DataRank · unranked

25 citations

Anjana Sevagamoorthy, Omar Sherbini, Jamie L. Fraser, Joshua L. Bonkowsky, Francesco Gavazzi +18 more

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Cytotherapy(2024)10.1016/j.jcyt.2024.03.487

N/A

0.489DataRank · unranked

25 citations

Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas, John Bernat +27 more

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109048

N/A

0.401DataRank · unranked

11 citations

Brittany A. Charsar, Eline M. Hamilton, Jacqueline Erler, Virali Patel, Sarah Woidill +38 more

Biochemical signatures of disease severity in multiple sulfatase deficiency

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12688

N/A

0.330DataRank · unranked

8 citations

Samar Mowafy, Zackary M. Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan +11 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0.269DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network ( RDCRN )

Clinical and Translational Science(2025)10.1111/cts.70340

Top 78%

0.104DataRank

Top 78%1 citations

Henry J. Kaminski, Adeline Vanderver, Michael Wagner, Eileen King, Maurizio Macaluso +1 more

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

medRxiv(2024)10.1101/2024.12.18.24318806

N/A

0.104DataRank · unranked

1 citations

Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zoco Zabala +24 more

Nucleotide metabolism, leukodystrophies, and CNS pathology

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12721

N/A

0DataRank · unranked

14 citations

Carlos Dominguez Gonzalez, Kaley Arnold, Meghan Swantkowski, Lauren Charlton, Nicholson Modesti +5 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

N/A

0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human Mutation(2020)10.1002/humu.23975

N/A

0DataRank · unranked

113 citations

Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck +58 more

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109003

N/A

0DataRank · unranked

5 citations

Anjana Sevagamoorthy, Sarah Woidill, Paul J. Orchard, Francesco Gavazzi, Suzanne P. MacFarland +4 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome

Journal of Child Neurology(2024)10.1177/08830738241241786

N/A

0DataRank · unranked

2 citations

Francesco Gavazzi, Isabella Peixoto de Barcelos, Nicholson Modesti, Sarah Woidill, Brielle Formanowski +9 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

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome

Journal of Child Neurology(2025)10.1177/08830738251341530

N/A

0DataRank · unranked

4 citations

Ashley E. Martin, Anjana Sevagamoorthy, Ylenia Vaia, Ariel Vincent, Sarah Woidill +6 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

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease

Neurology Genetics(2025)10.1212/nxg.0000000000200291

N/A

0DataRank · unranked

3 citations

Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zoco Zabala +24 more

Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03675-7

N/A

0DataRank · unranked

2 citations

Lucas Grinwis, Adeline Vanderver, Marjo S. van der Knaap, Taco W. Kuijpers, Shanice Beerepoot

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.07.011

N/A

0DataRank · unranked

1 citations

Davide Politano, Laura Adang, Elena Ballante, Roberta Battini, Enrico Bertini +20 more

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100525

N/A

0DataRank · unranked

1 citations

Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Justin A. McDonough +15 more

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.09.019

N/A

0DataRank · unranked

1 citations

Virali Patel, Jacqueline Erler, Brittany A. Charsar, Ylenia Vaia, Anjana Sevagamoorthy +12 more

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations

Molecular Therapy — Nucleic Acids(2025)10.1016/j.omtn.2025.102464

N/A

0DataRank · unranked

0 citations

Sunetra Sase, Julia Hacker, Vi Pham, Maxwell Chappell, Laura Breda +17 more

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society(2025)10.1002/cns3.70025

N/A

0DataRank · unranked

0 citations

Sarah Woidill, Russell D’Aiello, Amina Khan, Jacob McCann, Mark Ramos +27 more

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more

Systemic complications of Aicardi Goutières syndrome using real-world data

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108578

N/A

0DataRank · unranked

8 citations

Amanda Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi, David Isaacs +14 more

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.50975

N/A

0DataRank · unranked

80 citations

Marjolein Breur, Bonnie C. Plug, Shanice Beerepoot, Aimée S.R. Westerveld, Diane F. van Rappard +11 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Imaging Patterns Characterizing Mitochondrial Leukodystrophies

American Journal of Neuroradiology(2021)10.3174/ajnr.a7097

N/A

0DataRank · unranked

60 citations

Tim van de Brug, Cesar Alves, Susan Blasér, Adeline Vanderver, Nicole I. Wolf +2 more

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

Pediatric Neurology(2021)10.1016/j.pediatrneurol.2021.04.014

N/A

0DataRank · unranked

10 citations

Ayelet Zerem, Akshata Almad, Julia Hacker, Sarah Woidill, Sunetra Sase +15 more

Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome

Lara D. Veeken(2021)10.1093/rheumatology/keab860

N/A

0DataRank · unranked

9 citations

Alejandra Darling, Eva Caballero, Anna Mensa‐Vilaró, Joaquim Bartrons, Jordi Antón +4 more

Hodgkin lymphoma in an individual with TREX1‐mediated Aicardi Goutières syndrome

Pediatric Blood & Cancer(2021)10.1002/pbc.29322

N/A

0DataRank · unranked

3 citations

Jamie L. Fraser, Miriam Bloom, Laura Tochen, Jullie Rhee, Megan Kwan +6 more

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS

Arthritis & Rheumatology(2022)10.1002/art.42087

N/A

0DataRank · unranked

47 citations

Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani +27 more

Therapy Trial Design in Vanishing White Matter

Neurology Genetics(2022)10.1212/nxg.0000000000000657

N/A

0DataRank · unranked

32 citations

Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh‐Mann, Enrico Bertini +10 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.10.001

N/A

0DataRank · unranked

2 citations

Mohamad‐Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman +13 more

Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations

Stem Cell Research(2022)10.1016/j.scr.2022.102905

N/A

0DataRank · unranked

3 citations

Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patrícia Dias +8 more

Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

Journal of Child Neurology(2023)10.1177/08830738231188159

N/A

0DataRank · unranked

10 citations

Virali Patel, Brittany A. Charsar, Allan M. Glanzman, Jacqueline Erler, Anjana Sevagamoorthy +17 more

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome

Journal of Child Neurology(2023)10.1177/08830738231188753

N/A

0DataRank · unranked

9 citations

Allan M. Glanzman, Sarah Woidill, Brielle Formanowski, Agrani Dixit, David Isaacs +17 more

The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench

Immunological Reviews(2024)10.1111/imr.13413

N/A

0DataRank · unranked

18 citations

Nicholson Modesti, Nicole G. Coufal, Qingde Wang, Sunetra Sase, Jonathan J. Miner +3 more

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

JCI Insight(2024)10.1172/jci.insight.178456

N/A

0DataRank · unranked

14 citations

Russell D’Aiello, Asako Takanohashi, Sarah Woidill, Francesco Gavazzi, Edward M. Behrens +6 more

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108346

N/A

0DataRank · unranked

12 citations

Sarah Woidill, Francesco Gavazzi, Nicholson Modesti, Anjana Sevagamoorthy, Adeline Vanderver +2 more

Adeline Vanderver

Indexed papers

Top data-sharing exemplar

Papers