Sue Malcolm

6.9k citations

66 papers · 5.0k · 3 hit papers · h-index 35

Impact in

Sensory Systems top 1%
- Hearing, Cochlea, Tinnitus, Genetics
Genetics top 0.5%
- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- Connective tissue disorders research
- Genetic and Kidney Cyst Diseases

Papers in

Molecular Biology 44
- RNA and protein synthesis mechanisms 10
- Wnt/β-catenin signaling in development and cancer 5
Genetics 35
- Genetic Syndromes and Imprinting 10
- Genomic variations and chromosomal abnormalities 8
- Cleft Lip and Palate Research 7
- Connective tissue disorders research 7
- Genetics and Neurodevelopmental Disorders 6
- Craniofacial Disorders and Treatments 6

Co-authors: Paul Rutland (5 shared papers)William Reardon (5 shared papers)Robin M. Winter (6 shared papers)Louise J. Pulleyn (3 shared papers)Barry M. Jones (2 shared papers)Karen Woodward (9 shared papers)Sally Feather (8 shared papers)Adrian S. Woolf (8 shared papers)
Journals: Human Molecular Genetics (7 papers)Human Mutation (7 papers)The American Journal of Human Genetics (6 papers)Human Genetics (5 papers)Nature Genetics (5 papers)
Partner nations: United Kingdom India France

In The Last Decade

Sue Malcolm

66 papers receiving 4.7k citations

Sue Malcolm's Hit Papers

align trajectories log scale

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome 1994 · 517 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

1994 Nature Genetics
1994 Nature Genetics
1993 Nature

Peers

Countries citing papers authored by Sue Malcolm

Since Specialization

Citations

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

Fields of papers citing papers by Sue Malcolm

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Sue Malcolm, 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 Sue Malcolm Line = papers co-authored together Sue Malcolm 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 66 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome Nature Genetics ·William Reardon, Robin M. Winter, Paul Rutland, Louise J. Pulleyn, Barry M. Jones, Sue Malcolm Hit paper breakdown →	1994	623
2	Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM Nature ·Ulf Korthäuer, Daniel Graf, Hans Werner Mages, Francine Brière, Munoreedevi Padayachee, Sue Malcolm, Alberto G. Ugazio, Luigi D. Notarangelo, Roland J. Levinsky, Richard A. Kroczek Hit paper breakdown →	1993	617
3	A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Nature Genetics ·Maximilian Muenke, Ute Schell, Andreas Hehr, Nathaniel H. Robin, H. Wolfgang Losken, Albert Schinzel, Louise J. Pulleyn, Paul Rutland, William Reardon, Sue Malcolm, Robin M. Winter Hit paper breakdown →	1994	517
4	Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes Nature Genetics ·Paul Rutland, Louise J. Pulleyn, William Reardon, M Baraitser, Richard Hayward, Barry M. Jones, Sue Malcolm, Robin M. Winter, Michael Oldridge, Sarah F. Slaney, Michael D. Poole, Andrew O.M. Wilkie	1995	375
5	Identification of the Gene for Oral-Facial-Digital Type I Syndrome The American Journal of Human Genetics ·Maria Immacolata Ferrante, Sally Feather, Alessandro Bulfone, Victoria Wright, Michela Ghiani, Angelo Selicorni, Linda Gammaro, Francesco Scolari, Adrian S. Woolf, Odent Sylvie, Le Marec Bernard, Sue Malcolm, Robin Winter, Andrea Ballabio, Giovanna Giorgio, Brunella Franco	2001	255
6	A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene Nature Genetics ·Maria Bitner‐Glindzicz, Keith Lindley, Paul Rutland, Diana C. Blaydon, Virpi V. Smith, Peter J. Milla, Khalid Hussain, Judith Furth-Lavi, Karen E. Cosgrove, Ruth M. Shepherd, P. D. Barnes, Rachel E. O’Brien, Peter Farndon, Jane C. Sowden, Xuezhong Liu, Matthew J. Scanlan, Sue Malcolm, Mark J. Dunne, A Aynsley‐Green, Benjamin Gläser	2000	255
7	Fibroblast growth factor receptors: lessons from the genes Trends in Biochemical Sciences ·David F. Burke, David Wilkes, Tom L. Blundell, Sue Malcolm	1998	157
8	Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy Human Molecular Genetics ·Apiwat Mutirangura, Frank Greenberg, Merlin G. Butler, Sue Malcolm, Robert D. Nicholls, Aravinda Chakravarti, David H. Ledbetter	1993	147
9	OFD1 Is a Centrosomal/Basal Body Protein Expressed during Mesenchymal-Epithelial Transition in Human Nephrogenesis Journal of the American Society of Nephrology ·Leila Romio, Andrew M. Fry, Paul J.D. Winyard, Sue Malcolm, Adrian S. Woolf, Sally Feather	2004	127
10	Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1 The American Journal of Human Genetics ·Sally Feather, Sue Malcolm, Adrian S. Woolf, Victoria Wright, Diana C. Blaydon, Christopher Reid, Frances Flinter, Willem Proesmans, Koenraad Devriendt, Joan Carter, Paul Warwicker, Timothy H.J. Goodship, Judith A. Goodship	2000	112
11	Pelizaeus-Merzbacher Disease: Identification of Xq22 Proteolipid-Protein Duplications and Characterization of Breakpoints by Interphase FISH The American Journal of Human Genetics ·Karen Woodward, Elaine Kendall, David Vetrie, Sue Malcolm	1998	107
12	De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure Journal of the American Society of Nephrology ·Dagan Jenkins, Maria Bitner‐Glindzicz, Sue Malcolm, Chih‐Chi Andrew Hu, Jennifer Allison, Paul J.D. Winyard, Ambrose Gullett, David F. Thomas, Rachel Belk, Sally Feather, Tung‐Tien Sun, Adrian S. Woolf	2005	100
13	Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients Human Mutation ·David Baux, Lise Larrieu, Catherine Blanchet, Christian Hamel, Safouane Ben Salah, Anne Vielle, Brigitte Gilbert‐Dussardier, Muriel Holder, Patrick Calvas, Nicole Philip, Patrick Edery, Dominique Bonneau, Mireille Claustres, Sue Malcolm, Anne‐Françoise Roux	2007	87
14	Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy Human Mutation ·Christel Vaché, Thomas Besnard, Pauline Le Berre, Gema García‐García, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Hanno J. Bolz, José del R. Millán, Christian Hamel, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux	2011	84
15	Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination The American Journal of Human Genetics ·Karen Woodward, Maria Cundall, Karen Sperle, Erik A. Sistermans, Mark T. Ross, Gareth R. Howell, Susan Gribble, D. C. Burford, Nigel P. Carter, Donald L. Hobson, James Garbern, John Kamholz, Henry H. Heng, M. E. Hodes, Sue Malcolm, Grace M. Hobson	2005	82
16	OFD1, the Gene Mutated in Oral-Facial-Digital Syndrome Type 1, Is Expressed in the Metanephros and in Human Embryonic Renal Mesenchymal Cells Journal of the American Society of Nephrology ·Leila Romio, Victoria Wright, Karen Price, Paul J.D. Winyard, Dian Donnai, Mary Porteous, Brunella Franco, Giovanna Giorgio, Sue Malcolm, Adrian S. Woolf, Sally Feather	2003	78
17	Mutation analysis in patients with the typical form of Anderson — Fabry disease Human Molecular Genetics ·Joanna P. Davies, Bryan Winchester, Sue Malcolm	1993	69
18	WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations Human Mutation ·Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, (unknown), Mireille Claustres, Anne‐Françoise Roux	2015	62
19	Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen Human Genetics ·Jessica Tyson, Lisbeth Tranebjærg, Meriel McEntagart, Lars Allan Larsen, Christiansen Michael, Margo Whiteford, Jørn Bathen, Bjørn Aslaksen, Svein Sörland, Ole Lund, Marcus Pembrey, Sue Malcolm, Maria Bitner‐Glindzicz	2000	59
20	Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS American Journal of Medical Genetics Part A ·Megan P. Hitchins, Sarah Rickard, Fatima Dhalla, Bert B.A. de Vries, Robin Winter, Marcus Pembrey, Sue Malcolm	2003	56

About Sue Malcolm

Sue Malcolm is a scholar working on Molecular Biology, Genetics, Cellular and Molecular Neuroscience, Genetics and Pediatrics, Perinatology and Child Health, having authored 66 papers that have together received 5.0k indexed citations. Recurring topics across this work include RNA and protein synthesis mechanisms (10 papers), Genetic Syndromes and Imprinting (10 papers), Genomic variations and chromosomal abnormalities (8 papers), Cleft Lip and Palate Research (7 papers), Connective tissue disorders research (7 papers), Genetics and Neurodevelopmental Disorders (6 papers), Craniofacial Disorders and Treatments (6 papers) and Wnt/β-catenin signaling in development and cancer (5 papers). The work is most often cited by research in Sensory Systems (427 citations), Genetics (2.5k citations), Molecular Biology (2.7k citations), Urology (178 citations) and Immunology (630 citations). Sue Malcolm has collaborated with scholars based in United Kingdom, India and France. Frequent co-authors include Paul Rutland, William Reardon, Robin M. Winter, Louise J. Pulleyn, Barry M. Jones, Karen Woodward, Sally Feather, Adrian S. Woolf, Roland J. Levinsky and Daniel Graf. Their work appears in journals such as Human Molecular Genetics, Human Mutation, The American Journal of Human Genetics, Human Genetics and Nature 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.

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Sue Malcolm

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In The Last Decade

Sue Malcolm

Sue Malcolm's Hit Papers

Peers

Countries citing papers authored by Sue Malcolm

Fields of papers citing papers by Sue Malcolm

All Works

About Sue Malcolm

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