Sarah Smithson

6.7k citations

55 papers · 1.5k indexed · h-index 16

Genetics top 2%
- Connective tissue disorders research 10
- Genomics and Rare Diseases 6
- Genetics and Neurodevelopmental Disorders 6
- Genomic variations and chromosomal abnormalities 4
Hematology top 5%
Molecular Biology top 10%
- RNA modifications and cancer 5
- Bone Metabolism and Diseases 3
- Congenital heart defects research 3
Immunology and Allergy top 10%
Genetics top 10%
- Connective tissue disorders research 10
- Genomics and Rare Diseases 6
- Genetics and Neurodevelopmental Disorders 6
- Genomic variations and chromosomal abnormalities 4
Oncology
- Bone health and treatments 8

Co-authors: Wesley J. Woollard Richard C. Trembath Michael A. Simpson Dimitra Dafou Colin G. Steward Peter Lunt Valérie Cormier‐Daire Martine Le Merrer
Cited by: Genetics Hematology Molecular Biology
Journals: European Journal of Human Genetics (4 papers)The American Journal of Human Genetics (3 papers)American Journal of Medical Genetics Part C Seminars in Medical Genetics (2 papers)
Partner nations: United Kingdom United States Australia

In The Last Decade

Sarah Smithson

51 papers receiving 1.5k citations

Peers

Countries citing papers authored by Sarah Smithson

Since Specialization

Citations

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

Fields of papers citing papers by Sarah Smithson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

The 25 scholars most cited alongside Sarah Smithson, 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 Sarah Smithson Line = papers co-authored together Sarah Smithson links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia Clinical Genetics ·Alistair T. Pagnamenta,Laurentiu Mircea Simion,Joanna Kennedy,I.S. Kim,Amaka C Offiah,Jenny C. Taylor,Sarah Smithson	2025	0
2	CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes PEDIATRICS ·Hannah Rhodes,Melike Yuksel,Sarah Smithson,Mark Woodward	2024	0
3	Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom European Journal of Human Genetics ·Anna Middleton,Nicola V. Taverner,Catherine Houghton,Sarah Smithson,Meena Balasubramanian,Frances Elmslie	2022	13
4	Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 Journal of Medical Genetics ·Alistair T. Pagnamenta,Jing Yu,Julie Evans,Philip Twiss,(unknown),Amaka C Offiah,Ana Martínez-Peña Ruiz,Sarju Mehta,徐邦琪,Sarah Smithson,Jenny C. Taylor	2022	9
5	A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project Genome Medicine ·Donato Francesco,Htoo A. Wai,藤本一雄,Yan Bohong,Emmanuel Zagury Tourinho,Tessy Thomas,David J. Bunyan,N. Simon Thomas,Christine Burren,Lynn Greenhalgh,Melissa Lees,R W Marion,Sarah Smithson,Ana Lisa Taylor Tavares,Peter O’Donovan,Andrew G. L. Douglas,Nicola Whiffin,Diana Baralle,Jenny Lord	2022	20
6	Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly Journal of Medical Genetics ·A.J. Freeman,Emily V. Fletcher,Ranad Shaheen,Michael S. Nahorski,Amal Alhashem,Steven Lisgo,Alberto Fernández‐Jaén,Katherine Schon,Shan Gai,Sarah Smithson,Susan Lindsay,Hayley J. Sharpe,Fowzan S. Alkuraya,Geoff Woods	2021	2
7	AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination American Journal of Medical Genetics Part A ·Nicholas Barbara,Angela Barnicoat,Amaka C Offiah,Alistair Calder,Kshitij Mankad,N. Simon Thomas,David J. Bunyan,Maggie Williams,利英有井,Jongdeuk Lee,Kayal Vijayakumar,Tom Hilliard,James Turner,Christine Burren,Fergal Monsell,Sarah Smithson	2021	4
8	Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis Bone Reports ·節生稲葉,Ponni Sivaprakasam,Sarah Smithson,Colin G. Steward,Christine Burren	2020	5
9	Disruption ofTWIST1translation by 5′ UTR variants in Saethre-Chotzen syndrome Human Mutation ·Yan Zhou,Nils Koelling,Aimée L Fenwick,Simon J. McGowan,Eduardo Calpena,Steven A. Wall,Sarah Smithson,Andrew O.M. Wilkie,Stephen R.F. Twigg	2018	13
10	De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome 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	2012	187
11	Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) BMC Pediatrics ·Sachin B Lahane,Shane McKee,Sarah Smithson,D. Grier,Colin G. Steward	2012	14
12	Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype American Journal of Medical Genetics Part A ·Ingrid Scurr,Louise C. Wilson,Melissa Lees,Stephen P. Robertson,Edwin P. Kirk,Zhao Liang,John Morton,Alexa Kidd,Vandana Shashi,Anouck Matthijs,Margaret N. Berry,Alan D. Irvine,David Goudie,Claire Turner,Carole Brewer,Sarah Smithson	2011	54
13	Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) Nature Genetics ·Pia Østergaard,Michael A. Simpson,Fiona Connell,Colin G. Steward,Glen Brice,Wesley J. Woollard,Dimitra Dafou,Tatjana Kilo,Sarah Smithson,Peter Lunt,Victoria A. Murday,Shirley Hodgson,Russell Keenan,Daniela T. Pilz,Inés Martínez‐Corral,Taija Mäkinen,Peter Mortimer,Steve Jeffery,Richard C. Trembath,Sahar Mansour	2011	348
14	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? American Journal of Medical Genetics Part A ·Rob Hastings,David Harding,Alan Donaldson,Rachel Liebling,Alison Hayes,Alison Kraus,Shelagh Joss,Sannapapamma K. J,Peter D. Turnpenny,Sarah Smithson	2009	11
15	Pneumothorax in two siblings: Is there a genetic basis for recurrence? Journal of Thoracic and Cardiovascular Surgery ·J. J. Tang,Pradeep Narayan,Sarah Smithson,Anthony Morgan	2008	2
16	Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications The American Journal of Human Genetics ·Ruth Bargal,Valérie Cormier‐Daire,Ziva Ben‐Neriah,Martine Le Merrer,Jacob Sosna,Judith Melki,David Zangen,Sarah Smithson,Zvi Borochowitz,Ruth Belostotsky,Annick Raas‐Rothschild	2008	82
17	Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type Clinical Dysmorphology ·Sarah Smithson,D. Grier,Christine M Hall	2008	9
18	A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene Clinical Dysmorphology ·Gabrielle S. Sellick,Amal Kalach,Geert Mortier,Catherine King,Raissa Alvarez- Valdes,Ruth Newbury‐Ecob,Martin Gargan,Christine M Hall,Richard S. Houlston,Sarah Smithson	2006	6
19	Skeletal dysplasias Seminars in Fetal and Neonatal Medicine ·Jane A. Hurst,Helen V. Firth,Sarah Smithson	2005	16
20	Diagnosis in dysmorphology: clues from the skin British Journal of Dermatology ·Sarah Smithson,R M Winter	2004	9

About Sarah Smithson

Sarah Smithson is a scholar working on Genetics, Rheumatology, Oncology, Molecular Biology and Immunology, having authored 55 papers that have together received 1.5k indexed citations. Recurring topics across this work include Connective tissue disorders research (10 papers), Bone health and treatments (8 papers), Genomics and Rare Diseases (6 papers), Genetics and Neurodevelopmental Disorders (6 papers), RNA modifications and cancer (5 papers), Genomic variations and chromosomal abnormalities (4 papers), Bone Metabolism and Diseases (3 papers) and Congenital heart defects research (3 papers). The work is most often cited by research in Genetics (731 citations), Hematology (180 citations), Molecular Biology (767 citations), Immunology and Allergy (65 citations) and Genetics (82 citations). Sarah Smithson has collaborated with scholars based in United Kingdom, United States and Australia. Frequent co-authors include Wesley J. Woollard, Richard C. Trembath, Michael A. Simpson, Dimitra Dafou, Colin G. Steward, Peter Lunt, Valérie Cormier‐Daire, Martine Le Merrer, Sahar Mansour and Tatjana Kilo. Their work appears in journals such as European Journal of Human Genetics, The American Journal of Human Genetics, American Journal of Medical Genetics Part C Seminars in Medical Genetics, Journal of Medical Genetics and Archives of Disease in Childhood.

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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