Melanie Bahlo

Also affiliated with Walter and Eliza Hall Institute of Medical Research

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 5%percentile

0.461Author DataRank

Indexed papers

5in 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 5 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.

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Papers

Driven by 47 papers — median percentile 59. Top paper: “GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture”.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature Genetics(2023)10.1038/s41588-023-01485-w

N/A

2.9DataRank · unranked

217 citations

Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji, Zaid Afawi +95 more

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

Epilepsia Open(2021)10.1002/epi4.12553

N/A

0.680DataRank · unranked

12 citations

Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green +7 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0.661DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Nature Neuroscience(2024)10.1038/s41593-024-01747-8

N/A

0.612DataRank · unranked

58 citations

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori +95 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Infanticide vs. inherited cardiac arrhythmias

EP Europace(2021)10.1093/europace/euaa272

N/A

0.568DataRank · unranked

43 citations

Todor Arsov, David A Wallace, Helene H. Jensen, Mette Nyegaard, Lia Crotti +22 more

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

EBioMedicine(2022)10.1016/j.ebiom.2022.104079

N/A

0.561DataRank · unranked

41 citations

Colin A. Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir +12 more

Defining a tandem repeat catalog and variation clusters for genome-wide analyses

10.1101/2024.10.04.615514

N/A

0.550DataRank · unranked

15 citations

Egor Dolzhenko, Mark F. Bennett, Matt C. Danzi, Isaac R. L. Xu, Hope Tanudisastro +18 more

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

Annals of Neurology(2024)10.1002/ana.27060

N/A

0.520DataRank · unranked

31 citations

Anirudh N. Eranki, Hannah A. Stevens, Sonya Watson, Darice Y. Wong, Veronica S. Avila +28 more

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

High resolution imaging and five-year tuberculosis contact outcomes

medRxiv(2023)10.1101/2023.07.03.23292111

N/A

0.449DataRank · unranked

19 citations

Anna K. Coussens, Friedrich Thienemann, Bianca Sossen, Sandra Mukasa, James Warwick +31 more

Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease

Molecular Metabolism(2023)10.1016/j.molmet.2023.101716

N/A

0.442DataRank · unranked

18 citations

Roberto Bonelli, Brendan R. E. Ansell, Simone Tzaridis, Michal K. Handzlik, Grace H. McGregor +12 more

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

Brain(2023)10.1093/brain/awad314

N/A

0.406DataRank · unranked

14 citations

Thomas Scerri, Adam P. Vogel, Christopher A. Reid, Mara Quach, Victoria E. Jackson +28 more

iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function

Journal of Clinical Investigation(2023)10.1172/jci163771

N/A

0.385DataRank · unranked

12 citations

Brendan R. E. Ansell, Sarah Giles, Regis Fallon, Sarah Harkins‐Perry, Takayuki Nagasaki +15 more

Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future

Emerging Topics in Life Sciences(2023)10.1042/etls20230018

N/A

0.373DataRank · unranked

11 citations

Mark F. Bennett, Melanie Bahlo, Haloom Rafehi

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases

The American Journal of Human Genetics(2026)10.1016/j.ajhg.2026.03.020

N/A

0.208DataRank · unranked

3 citations

Egor Dolzhenko, Mark F. Bennett, Matt C. Danzi, Isaac R.L. Xu, Hope Tanudisastro +18 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease

medRxiv(2022)10.1101/2022.11.09.22281993

N/A

0DataRank · unranked

0 citations

Roberto Bonelli, Brendan R. E. Ansell, Simone Tzaridis, Michal K. Handzlik, Grace H. McGregor +12 more

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

EBioMedicine(2023)10.1016/j.ebiom.2023.104931

N/A

0DataRank · unranked

58 citations

Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk +42 more

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications(2023)10.1038/s41467-023-39040-0

N/A

0DataRank · unranked

24 citations

Stefanie Eggers, Ben Rollo, Katherine R. Smith, N. Davidson, Nicole A. Siddall +38 more

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Epilepsia Open(2023)10.1002/epi4.12887

N/A

0DataRank · unranked

2 citations

Michael S. Hildebrand, Guillem de Valles‐Ibáñez, Ngaire Keenan, Zimeng Ye, Christy W. LaFlamme +5 more

Statistical haemoglobin thresholds to define anaemia across the lifecycle

medRxiv(2023)10.1101/2023.05.22.23290129

N/A

0DataRank · unranked

2 citations

Katherine Fielding, Jiru Han, Victoria E. Jackson, Sophie Zaloumis, Jessica Xu +13 more

Haemoglobin thresholds to define anaemia from age 6 months to 65 years: estimates from international data sources

The Lancet Haematology(2024)10.1016/s2352-3026(24)00030-9

N/A

0DataRank · unranked

59 citations

Katherine Fielding, Jiru Han, Victoria E. Jackson, Sophie Zaloumis, Jessica Xu +13 more

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

EBioMedicine(2024)10.1016/j.ebiom.2024.105404

N/A

0DataRank · unranked

30 citations

Ingrid E Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Zaid Afawi, Dina Amrom +43 more

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52041

N/A

0DataRank · unranked

23 citations

Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett +25 more

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.014

N/A

0DataRank · unranked

13 citations

Karen Oliver, Rebekah V. Harris, Ruth Ottman, Ingrid E Scheffer, Heather C Mefford +4 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

Deep Learning‐Based Detection of Reticular Pseudodrusen in Age‐Related Macular Degeneration

Clinical and Experimental Ophthalmology(2025)10.1111/ceo.14607

N/A

0DataRank · unranked

7 citations

Yelena Bagdasarova, Scott Song, Doron G. Hickey, Amy Cohn, Mali Okada +22 more

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts

npj Parkinson s Disease(2025)10.1038/s41531-025-01188-5

N/A

0DataRank · unranked

3 citations

Michael Milton, Liam G. Fearnley, Oneil G. Bhalala, Melanie Bahlo, Haloom Rafehi +1 more

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Nature Communications(2020)10.1038/s41467-020-16819-z

N/A

0DataRank · unranked

95 citations

Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison Cox, Sanae Miyake +65 more

HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement

Nature Communications(2025)10.1038/s41467-025-65903-9

N/A

0DataRank · unranked

0 citations

Carla J. Abbott, Brendan R. E. Ansell, Zhichao Wu, Lebriz Altay, Ella Arnon +48 more

Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, PvAmpSeq, identity-by-descent and model-based classification

medRxiv(2025)10.1101/2025.05.26.25327775

N/A

0DataRank · unranked

3 citations

Jiru Han, Thomas Obadia, Jacob E. Munro, Zeinabou Traore, Kael L. Schoffer +10 more

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

Brain(2020)10.1093/brain/awaa039

N/A

0DataRank · unranked

87 citations

Marianne Hallupp, Hamideh Shahheydari, Audrey Ragagnin, Zac Chatterton, Francine Carew‐Jones +34 more

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.005

N/A

0DataRank · unranked

54 citations

Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti +37 more

SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics

Malaria Journal(2020)10.1186/s12936-020-03440-0

N/A

0DataRank · unranked

49 citations

Eline Kattenberg, Zahra Razook, Dulcie Lautu‐Gumal, Stuart Lee, Somya Mehra +7 more

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

Movement Disorders(2020)10.1002/mds.28105

N/A

0DataRank · unranked

21 citations

David J. Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M. White +4 more

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Epilepsia(2020)10.1111/epi.16475

N/A

0DataRank · unranked

24 citations

Guillem de Valles‐Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson +8 more

Real time, field-deployable whole genome sequencing of malaria parasites using nanopore technology

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.12.17.423341

N/A

0DataRank · unranked

19 citations

Somya Mehra, Brittany Gilchrist, Digjaya Utama, Dulcie Lautu‐Gumal, Abebe A. Fola +8 more

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.013

N/A

0DataRank · unranked

86 citations

Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona +34 more

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Human Molecular Genetics(2021)10.1093/hmg/ddab366

N/A

0DataRank · unranked

20 citations

Joshua E. Motelow, Mark F. Bennett, Zimeng Ye, Caitlin A. Bennett, Nicole G. Griffin +17 more

Atypical development of Broca’s area in a large family with inherited stuttering

Brain(2021)10.1093/brain/awab364

N/A

0DataRank · unranked

20 citations

Thomas Scerri, Susan Block, Samantha J. Turner, Sheena Reilly, Elaina Kefalianos +8 more

A family study implicates GBE1 in the etiology of autism spectrum disorder

Human Mutation(2021)10.1002/humu.24289

N/A

0DataRank · unranked

3 citations

Natasha J. Brown, Peter F. Hickey, Peter Diakumis, Haloom Rafehi, Kiymet Bozaoglu +17 more

Multi-omic Analysis of Developing Human Retina and Organoids Reveals Cell-Specific Cis-Regulatory Elements and Mechanisms of Non-Coding Genetic Disease Risk

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.31.454254

N/A

0DataRank · unranked

4 citations

Andrew E. Timms, Sarah Giles, Sarah Harkins‐Perry, Pin Lyu, Thanh Hoang +8 more

Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids

Developmental Cell(2022)10.1016/j.devcel.2022.02.018

N/A

0DataRank · unranked

88 citations

Andrew E. Timms, Sarah Giles, Sarah Harkins‐Perry, Pin Lyu, Thanh Hoang +8 more

Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens

PLoS Computational Biology(2022)10.1371/journal.pcbi.1009801

N/A

0DataRank · unranked

56 citations

Elijah Martin, Jacob E. Munro, Somya Mehra, Andrew J. Guy, Moses Laman +8 more

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus

Communications Biology(2022)10.1038/s42003-022-03102-8

N/A

0DataRank · unranked

36 citations

Jacob E. Munro, Lucie Semenec, Ramin Mazhari, Jessica Brewster, Caitlin Bourke +7 more

Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

Brain(2022)10.1093/brain/awac082

N/A

0DataRank · unranked

23 citations

Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino +27 more

Melanie Bahlo

Indexed papers

Top data-sharing exemplar

Papers