Gemma L. Carvill

Also affiliated with Northwestern Medicine

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 100%percentile

0Author 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 →

Papers

Driven by 24 papers. Top paper: “Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement”.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0.489DataRank · unranked

25 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0.442DataRank · unranked

18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Developmental Medicine & Child Neurology(2021)10.1111/dmcn.14989

N/A

0.312DataRank · unranked

7 citations

Sandra Jansen, Amy Lacroix, Matthew Zemel, Michele Mehaffey, Petra De Vries +6 more

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.09.434675

N/A

0.165DataRank · unranked

2 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +25 more

Multimodal framework to resolve variants of uncertain significance in TSC2

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.07.597916

N/A

0.104DataRank · unranked

1 citations

Cole Pfeifer, Gemma L. Carvill, Jeffrey D. Calhoun, Carina G Biar

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.06.425612

N/A

0DataRank · unranked

0 citations

Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed +24 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Genetics in Medicine(2022)10.1016/j.gim.2022.11.002

N/A

0DataRank · unranked

12 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +49 more

Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans

Clinical Pharmacology & Therapeutics(2022)10.1002/cpt.2820

N/A

0DataRank · unranked

3 citations

Cristina Alarcón, Larisa H. Cavallari, Edith A. Nutescu, Gemma L. Carvill, Minoli A. Perera +2 more

Precision medicine for developmental and epileptic encephalopathies in Africa – strategies for a resource-limited setting

medRxiv(2022)10.1101/2022.08.17.22278768

N/A

0DataRank · unranked

3 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +11 more

Poison exons in neurodevelopment and disease

Current Opinion in Genetics & Development(2020)10.1016/j.gde.2020.05.030

N/A

0DataRank · unranked

61 citations

Heather C. Mefford, Gemma L. Carvill

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.04.538282

N/A

0DataRank · unranked

2 citations

Patricia N. Schneider, Jung Hwa Hong, Eleanor Goes, Masha D Bandouil, Carina G Biar +9 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Genome-wide CRISPRi Screen in Human iNeurons to Identify Novel Focal Cortical Dysplasia Genes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.13.571474

N/A

0DataRank · unranked

1 citations

Jinghui Luo, J. Clayton Walker, Taylor N. Takla, Gemma L. Carvill, Jack M. Parent +1 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

JCI Insight(2025)10.1172/jci.insight.188014

N/A

0DataRank · unranked

10 citations

Hannah Stamberger, Jeffrey D. Calhoun, Sarah Weckhuysen, Gemma L. Carvill, Sheng Tang

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272

N/A

0DataRank · unranked

8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 more

Protocol to perform multiplexed assays of variant effect using curated loci prime editing

STAR Protocols(2025)10.1016/j.xpro.2025.103851

N/A

0DataRank · unranked

1 citations

Nicholas Bodkin, Gemma L. Carvill, Jeffrey D. Calhoun, Carina G Biar

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human Mutation(2020)10.1002/humu.24015

N/A

0DataRank · unranked

40 citations

Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara A. Lewis +40 more

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Journal of Clinical Investigation(2021)10.1172/jci140625

N/A

0DataRank · unranked

39 citations

Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquín Campos +30 more

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

Brain(2021)10.1093/brain/awab451

N/A

0DataRank · unranked

9 citations

Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed +24 more

Ultrasound-mediated blood–brain barrier opening increases cell-free DNA in a time-dependent manner

Neuro-Oncology Advances(2021)10.1093/noajnl/vdab165

N/A

0DataRank · unranked

16 citations

Andrew Gould, Hannah C. Happ, Mark W. Youngblood, Crismita Dmello, Seong Jae Kang +5 more