Shelagh Joss

6.0k citations

19 papers · 452 indexed · h-index 13

Co-authors: John Tolmie Mohnish Suri Veronica M. Pravatà Daan M. F. van Aalten Mehmet Gundogdu Marios P. Stavridis Mira Kharbanda Villő Muha
Topics: Congenital heart defects research (5 papers)Genomic variations and chromosomal abnormalities (5 papers)Genetics and Neurodevelopmental Disorders (3 papers)
Cited by: Genetics Developmental Biology Molecular Biology
Journals: Proceedings of the National Academy of Sciences PEDIATRICS Human Molecular Genetics
Partner nations: United Kingdom Italy United States

In The Last Decade

Shelagh Joss

19 papers receiving 429 citations

Peers

Countries citing papers authored by Shelagh Joss

Since Specialization

Citations

This map shows the geographic impact of Shelagh Joss'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 Shelagh Joss with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Shelagh Joss more than expected).

Fields of papers citing papers by Shelagh Joss

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Shelagh Joss. 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 Shelagh Joss. The network helps show where Shelagh Joss may publish in the future.

Co-authorship network of co-authors of Shelagh Joss

This figure shows the co-authorship network connecting the top 25 collaborators of Shelagh Joss. A scholar is included among the top collaborators of Shelagh Joss 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 Shelagh Joss. Shelagh Joss is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

19 of 19 papers shown

#	Work	Indexed citations
1	A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis 2020 ·Clinical Genetics ·(unknown),Charlotte Brasch‐Andersen,Helen Cox,(unknown),Michael Parker,Andrew E. Fry,Sara Loddo,Antonio Novelli,Maria Lisa Dentici,Shelagh Joss,(unknown),Christina Fagerberg	2
2	An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase 2020 ·European Journal of Human Genetics ·Veronica M. Pravatà,(unknown),Marios P. Stavridis,(unknown),(unknown),Dirk J. Lefeber,Jozef Gécz,Mehmet Gundogdu,Katrin Õunap,Shelagh Joss,Charles E. Schwartz,Lance Wells,Daan M. F. van Aalten	43
3	Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability 2019 ·Proceedings of the National Academy of Sciences ·Veronica M. Pravatà,Villő Muha,Mehmet Gundogdu,Andrew T. Ferenbach,(unknown),(unknown),(unknown),Vladimir S. Borodkin,Shelagh Joss,Marios P. Stavridis,Daan M. F. van Aalten	56
4	Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients 2018 ·European Journal of Medical Genetics ·(unknown),Moira Blyth,Ingrid Scurr,Peter D. Turnpenny,Sarju Mehta,Ruth Armstrong,Meriel McEntagart,Ruth Newbury‐Ecob,Edward S. Tobias,Shelagh Joss	9
5	NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea 2018 ·PEDIATRICS ·(unknown),David Fitzpatrick,(unknown),Neil Gibson,Laura L. Somerville,Shelagh Joss,(unknown),(unknown)	15
6	Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1 2017 ·Molecular Genetics & Genomic Medicine ·Mohnish Suri,(unknown),Roman A. Laskowski,(unknown),Kate Baker,Jill Clayton‐Smith,Tabib Dabir,Dragana Josifova,Shelagh Joss,Bronwyn Kerr,Alison Kraus,Meriel McEntagart,Jenny Morton,Audrey Smith,Miranda Splitt,Janet M. Thornton,(unknown),(unknown)	20
7	Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain 2016 ·Human Molecular Genetics ·Roman A. Laskowski,Nidhi Tyagi,Diana Johnson,Shelagh Joss,Esther Kinning,Catherine McWilliam,Miranda Splitt,Janet M. Thornton,Helen V. Firth,(unknown),(unknown)	19
8	Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum 2016 ·Clinical Dysmorphology ·Mark Hamilton,Ruth Newbury‐Ecob,Muriel Holder‐Espinasse,Shu Yau,Suzanne Lillis,Jane A. Hurst,Emma Clement,William Reardon,Shelagh Joss,Emma Hobson,Moira Blyth,(unknown),Sally Ann Lynch,Mohnish Suri	36
9	Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies 2015 ·Circulation Cardiovascular Genetics ·Laura Southgate,Maja Sukalo,(unknown),Edward J. Taylor,(unknown),Deborah Ruddy,Katie Snape,Bruno Dallapiccola,John Tolmie,Shelagh Joss,Francesco Brancati,M. Cristina Digilio,Luitgard Graul‐Neumann,Leonardo Salviati,Wiltrud Coerdt,Emmanuel Jacquemin,Wim Wuyts,Martin Zenker,Rajiv D. Machado,Richard C. Trembath	70
10	Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth 2015 ·Human Molecular Genetics ·Chey Loveday,Katrina Tatton‐Brown,Matthew Clarke,Isaac M. Westwood,Anthony Renwick,Emma Ramsay,Andrea H. Németh,Jennifer Campbell,Shelagh Joss,(unknown),Anna Zachariou,Anna Elliott,Elise Ruark,Rob van Montfort,Nazneen Rahman	62
11	An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities 2014 ·Journal of Human Genetics ·Toshiyuki Yamamoto,Anna Wilsdon,Shelagh Joss,Bertrand Isidor,Anna Erlandsson,Mohnish Suri,Noriko Sangu,Shino Shimada,Keiko Shimojima,Cédric Le Caignec,Lena Samuelsson,M Stefanova	38
12	How to use… microarray comparative genomic hybridisation to investigate developmental disorders 2014 ·Archives of Disease in Childhood Education & Practice ·Mira Kharbanda,John Tolmie,Shelagh Joss	15
13	G25 RASA1 Mutations and Vein of Galen Arterial Malformations 2013 ·Archives of Disease in Childhood ·Anne Marie Heuchan,Shelagh Joss,(unknown),Mohnish Suri,J. J. Bhattacharya	5
14	Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades? 2012 ·Clinical Genetics ·Ruth McGowan,(unknown),Sarah J. Ross,Susan Holloway,Shelagh Joss,D.E. Wilcox,Simon Holden,John Tolmie,Cheryl Longman	6
15	The face of Ulnar Mammary syndrome? 2011 ·European Journal of Medical Genetics ·Shelagh Joss,Usha Kini,Richard Fisher,Stefan Mundlos,Katrina Prescott,Ruth Newbury‐Ecob,John Tolmie	12
16	Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome? 2009 ·American Journal of Medical Genetics Part A ·Rob Hastings,David Harding,Alan Donaldson,Rachel Liebling,Alison Hayes,Alison Kraus,Shelagh Joss,(unknown),Peter D. Turnpenny,Sarah Smithson	11
17	Focal segmental glomerulosclerosis in a female patient with Donnai–Barrow syndrome 2009 ·Clinical Dysmorphology ·(unknown),(unknown),Katrina Prescott,Meaghan Russell,Mauro Longoni,Shelagh Joss	5
18	Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature 2007 ·European Journal of Pediatrics ·Shelagh Joss,(unknown),Susan Tomkins,Mushtaq Ahmed,John Bradbury,Eamonn Sheridan	16
19	Cleft palate, hypotelorism, and hypospadias: Schilbach‐Rott syndrome 2002 ·American Journal of Medical Genetics ·Shelagh Joss,Wendy F. Paterson,Malcolm Donaldson,John Tolmie	12

About Shelagh Joss

Shelagh Joss is a scholar working on Developmental Biology, Genetics and Molecular Biology, having authored 19 papers that have together received 452 indexed citations. Recurring topics across this work include Congenital heart defects research (5 papers), Genomic variations and chromosomal abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (3 papers). The work is most often cited by research in Genetics (169 citations), Developmental Biology (13 citations) and Molecular Biology (303 citations). Shelagh Joss has collaborated with scholars based in United Kingdom, Italy and United States. Frequent co-authors include John Tolmie, Mohnish Suri, Veronica M. Pravatà, Daan M. F. van Aalten, Mehmet Gundogdu, Marios P. Stavridis, Mira Kharbanda, Villő Muha, Andrew T. Ferenbach and Ruth Newbury‐Ecob. Their work appears in journals such as Proceedings of the National Academy of Sciences, PEDIATRICS and Human Molecular Genetics.

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.

Explore authors with similar magnitude of impact