Charles Shaw‐Smith

8.7k citations

41 papers · 2.3k indexed · h-index 21

Genetics top 2%
- Genomic variations and chromosomal abnormalities 7
- Diabetes and associated disorders 6
- Genetics and Neurodevelopmental Disorders 4
Surgery top 5%
- Pancreatic function and diabetes 8
- Esophageal and GI Pathology 5
- Congenital Diaphragmatic Hernia Studies 4
Molecular Biology top 10%
- Congenital heart defects research 9
Endocrinology, Diabetes and Metabolism top 5%
Genetics top 10%
- Genomic variations and chromosomal abnormalities 7
- Diabetes and associated disorders 6
- Genetics and Neurodevelopmental Disorders 4
Pulmonary and Respiratory Medicine
- Tracheal and airway disorders 5

Co-authors: Sian Ellard Andrew T. Hattersley Sarah E. Flanagan Elisa De Franco Hana Lango Allen Jorge Ferrer Richard Caswell Lionel Willatt
Cited by: Genetics Surgery Molecular Biology
Journals: Nature Genetics (4 papers)Diabetes (3 papers)Genetics in Medicine (2 papers)
Partner nations: United Kingdom United States Germany

In The Last Decade

Charles Shaw‐Smith

41 papers receiving 2.2k citations

Peers

Countries citing papers authored by Charles Shaw‐Smith

Since Specialization

Citations

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

Fields of papers citing papers by Charles Shaw‐Smith

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Charles Shaw‐Smith. 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 Charles Shaw‐Smith. The network helps show where Charles Shaw‐Smith may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Charles Shaw‐Smith, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Charles Shaw‐Smith Line = papers co-authored together Charles Shaw‐Smith links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease Human Mutation ·Miranda Durkie,Christopher M. Watson,Peter R. Winship,申桂云,H. Pringsheim,Sharon Cooley,Manoj K. Valluru,Charles Shaw‐Smith,Coralie Bingham,Mark Gilchrist,Janna Kenny,Albert Ong	2023	2
2	Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome SHILAP Revista de lepidopterología ·Emma Wakeling,Meriel McEntagart,E. De Clercq,Charles Shaw‐Smith,Karen Stals,Matthew N. Wakeling,Angela Barnicoat,Clare Beesley,Andrea Hanson‐Kahn,Mary K. Kukolich,David A. Stevenson,Philippe M. Campeau,Sian Ellard,Sarah H. Elsea,Xiang-Jiao Yang,Richard Caswell	2020	11
3	A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24 Pediatric Research ·Kate V. Everett,Paris Ataliotis,Barry A. Chioza,Charles Shaw‐Smith,Eddie M.K. Chung	2016	9
4	Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency Diabetic Medicine ·Elisa De Franco,Charles Shaw‐Smith,Sarah E. Flanagan,Raul Lilo,Jacek Wolf,Fredrik Vestberg,Friedrich Ebinger,Haris Prawira,Thiruvengadam Vasanthi,B. Yu. Anoshenko,Andrew T. Hattersley,Sian Ellard	2013	35
5	Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis Nature Genetics ·Michael N. Weedon,Inês Cebola,Ann‐Marie Patch,Sarah E. Flanagan,Elisa De Franco,Richard Caswell,Santiago A. Rodríguez‐Seguí,Charles Shaw‐Smith,ca Manuel Asín-Llorca,Hana Lango Allen,Jayne Houghton,Christian L. Roth,Rongrong Chen,Khalid Hussain,Phil Marsh,Ludovic Vallier,Anna Murray,Sian Ellard,Jorge Ferrer,Andrew T. Hattersley	2013	191
6	GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency Diabetes ·Elisa De Franco,Charles Shaw‐Smith,Sarah E. Flanagan,Maggie Shepherd,Andrew T. Hattersley,Sian Ellard	2012	104
7	GATA6 haploinsufficiency causes pancreatic agenesis in humans Nature Genetics ·Hana Lango Allen,Sarah E. Flanagan,Charles Shaw‐Smith,Elisa De Franco,İldem Akerman,Richard Caswell,Jorge Ferrer,Andrew T. Hattersley,Sian Ellard	2011	207
8	16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn Pediatric Critical Care Medicine ·Flore Zufferey,Danielle Martinet,Maria‐Chiara Osterheld,R.H. van den Beuken,Éric Giannoni,Teresa B. Gramm,Zhilian Xia,J. Beckmann,Charles Shaw‐Smith,Paweł Stankiewicz,Claire Langston,Florence Fellmann	2011	13
9	High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia Journal of Medical Genetics ·Serena Nik‐Zainal,Reiner Strick,Mekayla A. Storer,Ni Huang,Roland Rad,Lionel Willatt,Tomas Fitzgerald,Vicente Martín,Richard Sandford,Nigel P. Carter,Andreas Janecke,Stefan P. Renner,Patricia G. Oppelt,Christine Schulze,Sara Y. Brucker,Matthew E. Hurles,Matthias W. Beckmann,Pamela L. Strissel,Charles Shaw‐Smith	2011	87
10	SET Nuclear Oncogene Associates with Microcephalin/MCPH1 and Regulates Chromosome Condensation Journal of Biological Chemistry ·Justin Leung,Andrea Leitch,Jamie L. Wood,Charles Shaw‐Smith,Kay Metcalfe,Louise S. Bicknell,Andrew P. Jackson,Junjie Chen	2011	27
11	Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice Journal of Clinical Investigation ·Yang YaZhe,Karen McCue,Catherine Roberts,Vanessa Kyriakopoulou,英津子金井田,Angela N. Barrett,Francesca Vitelli,Katrina Prescott,Charles Shaw‐Smith,Koenraad Devriendt,Erika A. Bosman,Georg Steffes,Karen P. Steel,Subreena Simrick,M. Albert Basson,Elizabeth Illingworth,Peter Scambler	2009	111
12	Chromosome Engineering in ES Cells Methods in molecular biology ·Louise van der Weyden,Charles Shaw‐Smith,Allan Bradley	2009	13
13	Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother? American Journal of Medical Genetics Part A ·Dagmar Wieczorek,Charles Shaw‐Smith,Jürgen Kohlhase,W Schmitt,Karin Buiting,Alison J. Coffey,Eleanor Howard,Ute Hehr,Gabriele Gillessen‐Kaesbach	2007	12
14	Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability Nature Genetics ·Charles Shaw‐Smith,Alan Pittman,Lionel Willatt,Howard Martin,Lisa Rickman,Susan Gribble,М. Н. Мухарямов,Menglei Cui,Carolyn Dunn,Dimitrios Rafail Kalaitzopoulos,Keith Porter,Elena Prigmore,Ana Cristina Victorino Krepischi,Monica Castro Varela,Célia Priszkulnik Koiffmann,Andrew J. Lees,Carla Rosenberg,Helen V. Firth,Rohan de Silva,Nigel P. Carter	2006	258
15	Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology Journal of Medical Genetics ·Charles Shaw‐Smith	2005	201
16	Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity Movement Disorders ·Enza Maria Valente,Anjum Misbahuddin,Francesco Brancati,Alberto Varela-Feijoo,Barbara Garavaglia,Sergio Salvi,Andrea H. Németh,Charles Shaw‐Smith,Nardo Nardocci,Anna Rita Bentivoglio,Alfredo Berardelli,Roberto Eleopra,Bruno Dallapiccola,Thomas T. Warner	2003	25
17	Regional expression of intestinal genes for nutrient absorption. Gut ·Charles Shaw‐Smith,Julian R.F. Walters	1997	16
18	9 Growth factors and ulcerative gastrointestinal disease Baillière s Clinical Gastroenterology ·Raymond J. Playford,Charles Shaw‐Smith	1996	3
19	Characterization of DRP2, a novel human dystrophin homologue Nature Genetics ·Roland G. Roberts,Tom C. Freeman,Elaine Kendall,David Vetrie,A. K. Dixon,Charles Shaw‐Smith,Q. Bone,Martin Bobrow	1996	63
20	NON-STEROIDAL ANTI-INFLAMMATORY DRUGS: HOW DO THEY DAMAGE THE GUT? Lara D. Veeken ·S Levi,Charles Shaw‐Smith	1994	45

About Charles Shaw‐Smith

Charles Shaw‐Smith is a scholar working on Genetics, Developmental Biology, Clinical Biochemistry, Surgery and Genetics, having authored 41 papers that have together received 2.3k indexed citations. Recurring topics across this work include Congenital heart defects research (9 papers), Pancreatic function and diabetes (8 papers), Genomic variations and chromosomal abnormalities (7 papers), Diabetes and associated disorders (6 papers), Tracheal and airway disorders (5 papers), Esophageal and GI Pathology (5 papers), Congenital Diaphragmatic Hernia Studies (4 papers) and Genetics and Neurodevelopmental Disorders (4 papers). The work is most often cited by research in Genetics (1.1k citations), Surgery (958 citations), Molecular Biology (1.0k citations), Endocrinology, Diabetes and Metabolism (215 citations) and Genetics (135 citations). Charles Shaw‐Smith has collaborated with scholars based in United Kingdom, United States and Germany. Frequent co-authors include Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan, Elisa De Franco, Hana Lango Allen, Jorge Ferrer, Richard Caswell, Lionel Willatt, Julian P. T. Higgins and Hilary Burton. Their work appears in journals such as Nature Genetics, Diabetes, Genetics in Medicine, Journal of Medical Genetics and Diabetic Medicine.

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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