Emma L. Baple

Also affiliated with Royal Devon & Exeter NHS Foundation Trust, Royal Devon and Exeter Hospital, Exeter Hospital, Exeter Hospital

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 12 papers. Top paper: “Exploring the benefits, harms and costs of genomic newborn screening for rare diseases”.

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

Nature Medicine(2024)10.1038/s41591-024-03055-x

N/A

0.546DataRank · unranked

37 citations

Richard H. Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah Wynn +5 more

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.007

N/A

0DataRank · unranked

52 citations

Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals +24 more

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion

Cell stem cell(2020)10.1016/j.stem.2020.06.018

N/A

0DataRank · unranked

32 citations

Jaime M. Reyes, Michael C. Gundry, Lorenzo Brunetti, Henry Lee-Six, Mia Petljak +19 more

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Journal of Clinical Investigation(2020)10.1172/jci128152

N/A

0DataRank · unranked

24 citations

William W. Motley, Janel O. Johnson, William H. Aisenberg, Katherine Marshall, Katy Barwick +16 more

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Brain(2021)10.1093/brain/awab313

N/A

0DataRank · unranked

53 citations

Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney +40 more

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Brain(2023)10.1093/brain/awad240

N/A

0DataRank · unranked

72 citations

Stefania Magri, Riccardo Curró, Elena Abati, Stefano Facchini, Marinella Corbetta +95 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

Prevalence and Penetrance of Heritable Retinoblastoma in Two Adult Population Cohorts: Implications for genomic newborn screening

medRxiv(2025)10.64898/2025.12.16.25342350

N/A

0DataRank · unranked

0 citations

Timothy Hall, Helen Hanson, James Fasham, Emma L. Baple, Michael N. Weedon +3 more

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.07.019

N/A

0DataRank · unranked

12 citations

Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura A. Dyer, Jiaolong Wang +24 more