Lynette G. Sadleir

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 17 papers. Top paper: “Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype”.

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

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

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

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

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

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

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

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

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

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

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

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

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