Heather C. Mefford

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 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 42 papers. Top paper: “Targeted long-read sequencing identifies missing disease-causing variation”.

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0.825DataRank · unranked

243 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Genome biology(2022)10.1186/s13059-022-02826-4

N/A

0.626DataRank · unranked

64 citations

Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft +9 more

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.009

N/A

0.515DataRank · unranked

30 citations

Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed +14 more

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

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 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

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

Nature Communications(2025)10.1038/s41467-025-59553-0

N/A

0.165DataRank · unranked

2 citations

Sudipta Lahiri, Anoop Singh Chauhan, Marcos Rios Garcia, Lucy E Goodley, Thomas L. Clarke +31 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

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.365395

N/A

0DataRank · unranked

10 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +32 more

Faculty Opinions recommendation of Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature(2020)10.3410/f.736551597.793571938

N/A

0DataRank · unranked

0 citations

Heather C. Mefford

Faculty Opinions recommendation of Identification of rare de novo epigenetic variations in congenital disorders.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature(2020)10.3410/f.733288982.793571956

N/A

0DataRank · unranked

0 citations

Heather C. Mefford

The severe epilepsy syndromes of infancy: A population‐based study

Epilepsia(2021)10.1111/epi.16810

N/A

0DataRank · unranked

67 citations

Jeremy L. Freeman, Mark T. Mackay, Michael Fahey, John S. Archer, Samuel F. Berkovic +24 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0DataRank · unranked

18 citations

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

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y

N/A

0DataRank · unranked

17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 more

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain(2021)10.1093/brain/awab409

N/A

0DataRank · unranked

17 citations

Jolien Roovers, Noor Smal, Candace T. Myers, Dilşad Türkdoğan, Filip Roelens +29 more

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.11.18.469113

N/A

0DataRank · unranked

8 citations

Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft +9 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

0DataRank · unranked

2 citations

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

0DataRank · unranked

41 citations

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

Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor

Scientific Reports(2022)10.1038/s41598-022-09097-w

N/A

0DataRank · unranked

14 citations

Cameron Murray, Bonnie Cole, J. N. Mark Glover, Gordon K. Chan, Jean Deschênes +11 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

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 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

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

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

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

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

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS)

Annals of Neurology(2024)10.1002/ana.27041

N/A

0DataRank · unranked

18 citations

Karen Oliver, Brigid M. Regan, Amy Schneider, Candace T. Myers, Michele G. Mehaffey +22 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

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

The Journal of Pediatrics(2020)10.1016/j.jpeds.2020.06.020

N/A

0DataRank · unranked

61 citations

Sarah V. Clowes Candadai, Megan Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines +14 more

Familial aggregation of seizure outcomes in four familial epilepsy cohorts

Epilepsia(2024)10.1111/epi.18004

N/A

0DataRank · unranked

1 citations

Danni Tu, Karen Oliver, Heather C. Mefford, W. Allen Hauser, Jeffrey Buchhalter +5 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101886

N/A

0DataRank · unranked

7 citations

Jennifer N. Cech, Cate Paschal, Bri Dingmann, Anna I. Scott, Jenny Thies +24 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

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

Epiliepsy currents/Epilepsy currents(2020)10.1177/1535759719895279

N/A

0DataRank · unranked

19 citations

Dennis Dlugos, David C. Henshall, Heather C. Mefford, Michael A. Rogawski, Kevin J. Staley +4 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 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

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Neuron(2020)10.1016/j.neuron.2020.01.027

N/A

0DataRank · unranked

35 citations

Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao +26 more