Joseph D. Symonds

Also affiliated with University of Glasgow

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 8 papers. Top paper: “The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications”.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brain(2022)10.1093/brain/awac210

N/A

3.6DataRank · unranked

161 citations

Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki +30 more

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0.457DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 more

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z

N/A

0DataRank · unranked

39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 more

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

Journal of Clinical Investigation(2022)10.1172/jci159806

N/A

0DataRank · unranked

32 citations

Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang +29 more

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Brain(2022)10.1093/brain/awac305

N/A

0DataRank · unranked

26 citations

Eduardo Pérez‐Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S. Møller, Stéphanie Schorge +8 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

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

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A -Related Epilepsies

Neurology(2022)10.1212/wnl.0000000000200028

N/A

0DataRank · unranked

73 citations

Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans +17 more