Frances Elmslie

5.0k citations

28 papers · 2.0k indexed · 1 hit paper · h-index 18

Molecular Biology top 10%
Physiology top 5%
Genetics top 5%
Cellular and Molecular Neuroscience top 5%
Pulmonary and Respiratory Medicine top 10%

Co-authors: John N. Wood Mark D. Baker R. Mark Gardiner Keith A. Parker Norbert Klugbauer Caroline Fertleman Bjarke Abrahamsen Michele Rees
Topics: Genetics and Neurodevelopmental Disorders (7 papers)Tuberous Sclerosis Complex Research (5 papers)Genomic variations and chromosomal abnormalities (5 papers)
Cited by: Physiology Cellular and Molecular Neuroscience Genetics
Journals: Neuron Nature Genetics Neurology
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Frances Elmslie

28 papers receiving 2.0k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

2006 559 citations Caroline Fertleman, Mark D. Baker et al. Neuron profile →

Peers

Countries citing papers authored by Frances Elmslie

Since Specialization

Citations

This map shows the geographic impact of Frances Elmslie's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Frances Elmslie with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Frances Elmslie more than expected).

Fields of papers citing papers by Frances Elmslie

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Frances Elmslie. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Frances Elmslie. The network helps show where Frances Elmslie may publish in the future.

Co-authorship network of co-authors of Frances Elmslie

This figure shows the co-authorship network connecting the top 25 collaborators of Frances Elmslie. A scholar is included among the top collaborators of Frances Elmslie based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Frances Elmslie. Frances Elmslie is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus 2019 ·World Neurosurgery ·Anan Shtaya,Frances Elmslie,Yanick J. Crow,Samantha Hettige	14
2	The UK guidelines for management and surveillance of Tuberous Sclerosis Complex 2018 ·QJM ·Sam Amin,J.C. Kingswood,Patrick Bolton,Frances Elmslie,Daniel P. Gale,C. C. Harland,Simon R. Johnson,Alasdair Parker,Julian R. Sampson,(unknown),Ingram Wright,Finbar O’Callaghan	24
3	Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study 2016 ·The Nephron journals/Nephron journals ·J.C. Kingswood,John J. Bissler,Klemens Budde,John C. Hulbert,Lisa M. Guay‐Woodford,Julian R. Sampson,Matthias Sauter,Jane A. Cox,Uday Patel,Frances Elmslie,Chris Anderson,Bernard A. Zonnenberg	53
4	De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome 2012 ·The American Journal of Human Genetics ·Wendy D. Jones,Dimitra Dafou,Meriel McEntagart,Wesley J. Woollard,Frances Elmslie,Muriel Holder‐Espinasse,Melita Irving,Anand Saggar,Sarah Smithson,Richard C. Trembath,Charu Deshpande,Michael A. Simpson	187
5	Functional Assessment ofTSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex 2012 ·Human Mutation ·Marianne Hoogeveen‐Westerveld,Rosemary Ekong,(unknown),Karin Mayer,N. Lannoy,Frances Elmslie,(unknown),Kira A. Dies,Carl Thompson,Steven Sparagana,Peter Davies,Agnies M. van Eeghen,Dicky Halley,Mark Nellist	53
6	Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss 2011 ·Nature Genetics ·Michael A. Simpson,Melita Irving,Esra Asilmaz,Mary Jane Gray,Dimitra Dafou,Frances Elmslie,Sahar Mansour,Sue Holder,Caroline Brain,Barbara K. Burton,Katherine H. Kim,Richard M. Pauli,Salim Aftimos,Helen Stewart,Chong Ae Kim,Muriel Holder‐Espinasse,Stephen P. Robertson,William Drake,Richard C. Trembath	218
7	A new Na_v1.7 sodium channel mutation I234T in a child with severe pain 2010 ·European Journal of Pain ·Hye‐Sook Ahn,Sulayman D. Dib‐Hajj,James J. Cox,Lynda Tyrrell,Frances Elmslie,Antonia Clarke,Joost P.H. Drenth,C. Geoffrey Woods,Stephen G. Waxman	42
8	Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated 2009 ·British Journal of Urology ·Prasanna Sooriakumaran,(unknown),Geoffrey D. Coughlin,(unknown),Frances Elmslie,Christopher Kingswood,Jeremy Taylor,Cathy Corbishley,Uday Patel,Christopher Anderson	112
9	‘Over-the-counter’ genetic testing: what does it really mean for primary care? 2009 ·British Journal of General Practice ·Imran Rafi,Nadeem Qureshi,Anneke Lucassen,Michael Modell,Frances Elmslie,Joe Kai,Maggie Kirk,(unknown),Sheila Goff,Paul Brennan,Shirley Hodgson	12
10	Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in theSCN9Agene, encoding a voltage-gated sodium channel 2009 ·Clinical and Experimental Dermatology ·J. Natkunarajah,Duncan Atherton,Frances Elmslie,Sahar Mansour,Peter Mortimer	22
11	SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypesbreakdown → 2006 ·Neuron ·Caroline Fertleman,Mark D. Baker,Keith A. Parker,(unknown),Frances Elmslie,Bjarke Abrahamsen,Johan Östman,Norbert Klugbauer,John N. Wood,R. Mark Gardiner,Michele Rees	559
12	Molecular and phenotypic characterization of ring chromosome 22 2005 ·American Journal of Medical Genetics Part A ·Aaron R. Jeffries,Sarah Curran,Frances Elmslie,Ajay Sharma,Sharon L. Wenger,Marybeth Hummel,John Powell	85
13	A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype 2004 ·American Journal of Medical Genetics Part A ·(unknown),(unknown),(unknown),Caroline Mackie Ogilvie,Frances Elmslie	10
14	Different mutations in theNF1gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) 2003 ·American Journal of Medical Genetics Part A ·Diana Baralle,(unknown),Kamini Kalidas,Frances Elmslie,John C. Whittaker,Melissa Lees,Nicola Ragge,Michael A. Patton,Robin M. Winter,Charles ffrench‐Constant	46
15	18. GENETICS OF BREAST CANCER 2002 ·International Journal of Clinical Practice ·Melita Irving,Frances Elmslie,J. Berg	9
16	Epilepsy (update) 2000 ·European Journal of Paediatric Neurology ·Frances Elmslie	3
17	Gene table: Epilepsy (update) 1998 ·European Journal of Paediatric Neurology ·Frances Elmslie	1
18	Epilepsy 1997 ·European Journal of Paediatric Neurology ·Frances Elmslie	2
19	Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q 1997 ·Human Molecular Genetics ·Frances Elmslie	190
20	Alagille syndrome: family studies. 1995 ·Journal of Medical Genetics ·Frances Elmslie,Anthony J. Vivian,Helena M. Gardiner,(unknown),A P Mowat,R M Winter	52

About Frances Elmslie

Frances Elmslie is a scholar working on Developmental Biology, Genetics and Physiology, having authored 28 papers that have together received 2.0k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (7 papers), Tuberous Sclerosis Complex Research (5 papers) and Genomic variations and chromosomal abnormalities (5 papers). The work is most often cited by research in Physiology (740 citations), Cellular and Molecular Neuroscience (440 citations) and Genetics (566 citations). Frances Elmslie has collaborated with scholars based in United Kingdom, United States and Netherlands. Frequent co-authors include John N. Wood, Mark D. Baker, R. Mark Gardiner, Keith A. Parker, Norbert Klugbauer, Caroline Fertleman, Bjarke Abrahamsen, Michele Rees, Johan Östman and Melita Irving. Their work appears in journals such as Neuron, Nature Genetics and Neurology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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