Sarah Smithson

6.9k citations

55 papers · 1.5k · h-index 17

Impact in

Genetics top 2%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic and Kidney Cyst Diseases
- Blood disorders and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Hematology top 5%
- Acute Myeloid Leukemia Research

Papers in

Genetics 25
- Connective tissue disorders research 10
- Genomics and Rare Diseases 6
- Genetics and Neurodevelopmental Disorders 4
Molecular Biology 23
- Congenital heart defects research 3
- Bone Metabolism and Diseases 3

Co-authors: Wesley J. Woollard (2 shared papers)Dimitra Dafou (2 shared papers)Michael A. Simpson (2 shared papers)Richard C. Trembath (2 shared papers)Colin G. Steward (4 shared papers)Peter Lunt (2 shared papers)Daniela T. Pilz (1 shared paper)Fiona Connell (1 shared paper)
Journals: European Journal of Human Genetics (4 papers)The American Journal of Human Genetics (3 papers)Clinical Genetics (2 papers)Journal of Medical Genetics (2 papers)Archives of Disease in Childhood (2 papers)
Partner nations: United Kingdom United States Australia

In The Last Decade

Sarah Smithson

52 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-authors

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

Showing the 20 most-cited of 55 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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	350
2	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	188
3	DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III The American Journal of Human Genetics ·Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire	2009	165
4	Autism, language and communication in children with sex chromosome trisomies Archives of Disease in Childhood ·Dorothy Bishop, P. A. Jacobs, Katherine Lachlan, Diana Wellesley, Angela Barnicoat, Patricia A. Boyd, Alan Fryer, Prisca Middlemiss, Sarah Smithson, K Metcalfe, D. Shears, Victoria Leggett, Kate Nation, Gaia Scerif	2010	135
5	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	84
6	Barth syndrome: an X‐linked cause of fetal cardiomyopathy and stillbirth Prenatal Diagnosis ·Colin G. Steward, RA Newbury-Ecob, Rob Hastings, Sarah Smithson, B Tsai-Goodman, OW Quarrell, Wim Kulik, Ronald Wanders, Michael Pennock, Maggie Williams, J. R. Cresswell, I. Bugallo González, Paul Brennan	2010	82
7	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, Anne Turner, John Morton, Alexa Kidd, Vandana Shashi, Christy Stanley, Margaret N. Berry, Alan D. Irvine, David Goudie, Claire Turner, Carole Brewer, Sarah Smithson	2011	54
8	Brittle cornea syndrome: recognition, molecular diagnosis and management Orphanet Journal of Rare Diseases ·Emma Mm Burkitt Wright, Louise F. Porter, Helen Spencer, Jill Clayton‐Smith, Leon Au, Francis L. Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes Manson, Graeme C. Black	2013	47
9	Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen S. Shields, Marı́a S. Remedi, Nine Knoers, Jin‐Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften	2019	46
10	TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton American Journal of Medical Genetics Part A ·Christine Burren, Richard Caswell, Bruce Castle, C.R. Welch, Tom Hilliard, Sarah Smithson, Sian Ellard	2018	33
11	Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies European Journal of Human Genetics ·Karen W. Gripp, Sarah Smithson, Ingrid Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather M. McLaughlin, Lisette Leeuwen, Marleen Simon, Ellen van Binsbergen, Mary Beth Dinulos, Julie Kaplan, Anne McRae, Andrea Superti‐Furga, Jean‐Marc Good, Kerstin Kutsche	2021	26
12	A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project Genome Medicine ·Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord	2022	23
13	Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype Clinical Genetics ·Jessica A. Radley, Rory O’Sullivan, Sarah Turton, Helen Cox, Julie Vogt, Jenny Morton, Elizabeth A. Jones, Sarah Smithson, Katherine Lachlan, Julia Rankin, Jill Clayton‐Smith, Josh Willoughby, Frances Elmslie, Francis H. Sansbury, Nicola Cooper, (unknown), (unknown)	2019	21
14	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	17
15	Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH American Journal of Medical Genetics Part A ·Morag N. Collinson, Samantha J. Leonard, Jocelyn Charlton, John A. Crolla, Caroline Silve, Christine M Hall, Colin Oglivie, Margaret A. James, Sarah Smithson	2010	17
16	Predictive testing for inherited prion disease: report of 22 years experience European Journal of Human Genetics ·Jane Owen, Jon Beck, Tracy Campbell, Gary Adamson, Michele Gorham, Andrew Thompson, Sarah Smithson, Elizabeth C. Rosser, Peter Rudge, John Collinge, Simon Mead	2014	16
17	Skeletal dysplasias Seminars in Fetal and Neonatal Medicine ·Jane A. Hurst, Helen V. Firth, Sarah Smithson	2005	16
18	Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) BMC Pediatrics ·Steven J. Keogh, Shane McKee, Sarah Smithson, D. Grier, Colin G. Steward	2012	15
19	The KBG syndrome Clinical Dysmorphology ·Sarah Smithson, Elizabeth M. Thompson, A. G. McKinnon, I.S. Smith, R M Winter	2000	14
20	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

About Sarah Smithson

Sarah Smithson is a scholar working on Genetics, Molecular Biology, Oncology, Epidemiology and Rheumatology, 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 (7 papers), Genomics and Rare Diseases (6 papers), Genetics and Neurodevelopmental Disorders (4 papers), Bone and Dental Protein Studies (3 papers), Congenital heart defects research (3 papers), Bone Metabolism and Diseases (3 papers) and Lysosomal Storage Disorders Research (3 papers). The work is most often cited by research in Genetics (676 citations), Hematology (166 citations), Immunology and Allergy (61 citations), Molecular Biology (682 citations) and Genetics (73 citations). Sarah Smithson has collaborated with scholars based in United Kingdom, United States and Australia. Frequent co-authors include Wesley J. Woollard, Dimitra Dafou, Michael A. Simpson, Richard C. Trembath, Colin G. Steward, Peter Lunt, Daniela T. Pilz, Fiona Connell, Peter Mortimer and Glen Brice. Their work appears in journals such as European Journal of Human Genetics, The American Journal of Human Genetics, Clinical 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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