John Tolmie

11.2k citations

108 papers · 3.8k · h-index 34

Impact in

Genetics top 1%
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Molecular Biology top 5%
- Sexual Differentiation and Disorders
- Congenital heart defects research

Papers in

Genetics 57
- Genomic variations and chromosomal abnormalities 24
- Genetics and Neurodevelopmental Disorders 13
- Connective tissue disorders research 11
- Genetic Syndromes and Imprinting 9
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 8
Molecular Biology 47
- Congenital heart defects research 9

Co-authors: Alexander Cooke (11 shared papers)John B.P. Stephenson (9 shared papers)E. Boyd (9 shared papers)M.A. Ferguson‐Smith (6 shared papers)David Fitzpatrick (4 shared papers)Nabeel A. Affara (4 shared papers)Yanick J. Crow (6 shared papers)Roland Lill (2 shared papers)
Journals: Journal of Medical Genetics (25 papers)Prenatal Diagnosis (6 papers)Clinical Genetics (6 papers)The American Journal of Human Genetics (4 papers)Archives of Disease in Childhood (4 papers)
Partner nations: United Kingdom United States Hungary

In The Last Decade

John Tolmie

105 papers receiving 3.6k citations

Peers

Countries citing papers authored by John Tolmie

Since Specialization

Citations

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

Fields of papers citing papers by John Tolmie

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside John Tolmie, 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 John Tolmie Line = papers co-authored together John Tolmie 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 108 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B Nature Genetics ·Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen V. Firth, David Fitzpatrick, Alexa Kidd, K Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman	2004	469
2	Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation Blood ·Soumeya Bekri, Gyula Kispál, Heike Lange, Edward J. Fitzsimons, John Tolmie, Roland Lill, David F. Bishop	2000	239
3	Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24 The American Journal of Human Genetics ·Hilary A. Phillips, Ingrid E. Scheffer, Kathryn M. Crossland, Kailash P. Bhatia, D. R. Fish, C. D. Marsden, Stephen Howell, J Stephenson, John Tolmie, Giuseppe Plazzi, Orvar Eeg‐Olofsson, Rita Singh, Íscia Lopes‐Cendes, E. Andermann, Frédérick Andermann, Samuel F. Berkovic, John C. Mulley	1998	167
4	CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients Journal of Medical Genetics ·Hayley Archer, Julie Evans, Stuart W. Edwards, James Colley, Ruth Newbury‐Ecob, Finbar O’Callaghan, Margaret Huyton, M O'Regan, John Tolmie, Julian R. Sampson, Angus Clarke, J. P. Osborne	2006	154
5	Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination Human Genetics ·M.A. Ferguson‐Smith, Alexander Cooke, Nabeel A. Affara, E. Boyd, John Tolmie	1990	128
6	Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families American Journal of Medical Genetics ·R Hughes-Benzie, Giuseppe Pilia, J.Y. Xuan, Alasdair G. W. Hunter, Ellson Chen, Mahin Golabi, Jane A. Hurst, J. Kobori, Kathi Marymee, Roberta A Pagon, Hope H. Punnett, Susan Schelley, John Tolmie, Monica M. Wohlferd, Tom Grossman, David Schlessinger, Alex MacKenzie	1996	121
7	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome Nature Genetics ·Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrèe, Maja Di Rocco, Delphine Héron, Sébastien Jacquemont, Sandrine Marlin, Marleen Simon, John Tolmie, Alain Verloès, Jean‐Laurent Casanova, Arnold Münnich, Valérie Cormier‐Daire	2011	120
8	Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome The American Journal of Human Genetics ·Neil V. Morgan, Louise Brueton, P. Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamás Marton, Lihadh Al‐Gazali, Jenny E.V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher	2006	114
9	Variable transfer of Y-specific sequences in XX males Nucleic Acids Research ·Nabeel A. Affara, M.A. Ferguson‐Smith, John Tolmie, KY Kwok, Michael Mitchell, Derek J. Jamieson, April Cook, L. Florentin	1986	107
10	Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia Journal of Biological Chemistry ·Sharon G. McDowall, Anthony Argentaro, Shoba Ranganathan, Polly Weller, Sabine Mertin, Sahar Mansour, John Tolmie, Vincent R. Harley	1999	99
11	The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). Journal of Medical Genetics ·John Tolmie, Paul Shillito, R Hughes-Benzie, John B.P. Stephenson	1995	77
12	Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Circulation Cardiovascular Genetics ·Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Edward J. Taylor, Claire Collinson, 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	2015	72
13	Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes Nucleic Acids Research ·Nabeel A. Affara, M.A. Ferguson‐Smith, R.E. Magenis, John Tolmie, E. Boyd, Alexander Cooke, Derek J. Jamieson, KY Kwok, Michael Mitchell, L. Snadden	1987	70
14	Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument Neuropediatrics ·Yanick J. Crow, Jerry McMenamin, C. A. Haenggeli, Dexter Hadley, Sunnypriyatham Tirupathi, Eileen P. Treacy, Sameer M. Zuberi, B H Browne, John Tolmie, J Stephenson	2004	63
15	Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation Journal of Medical Genetics ·Vincent Laugel, C Dalloz, Edward S. Tobias, John Tolmie, Dominique Martin‐Coignard, Valérie Drouin‐Garraud, Vassili Valayannopoulos, Alain Sarasin, Hélène Dollfus	2008	59
16	Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Epilepsia ·Ailsa McLellan, Hilary A. Phillips, Christopher Rittey, Martin Kirkpatrick, John C. Mulley, David Goudie, John B.P. Stephenson, John Tolmie, Ingrid E. Scheffer, Samuel F. Berkovic, Sameer M. Zuberi	2003	58
17	WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations American Journal of Medical Genetics Part A ·Mohnish Suri, P. Kelehan, David O’Neill, S. Vadeyar, Judith Grant, S. Faisal Ahmed, John Tolmie, Emma McCann, Wayne Lam, Shirley I. Smith, David Fitzpatrick, Nicholas D. Hastie, William Reardon	2007	57
18	Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty The Journal of Pediatrics ·Joanne Blair, John Tolmie, A.S. Hollman, Malcolm Donaldson	2001	55
19	A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. Journal of Medical Genetics ·Saeed Reza Ghaffari, E. Boyd, John Tolmie, Yanick J. Crow, Alison Trainer, J M Connor	1998	52
20	A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification Eye ·John Tolmie, B H Browne, P. McGettrick, John B.P. Stephenson	1988	50

About John Tolmie

John Tolmie is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Surgery and Cellular and Molecular Neuroscience, having authored 108 papers that have together received 3.8k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (24 papers), Prenatal Screening and Diagnostics (13 papers), Genetics and Neurodevelopmental Disorders (13 papers), Connective tissue disorders research (11 papers), Congenital heart defects research (9 papers), Genetic Syndromes and Imprinting (9 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (8 papers) and Chromosomal and Genetic Variations (7 papers). The work is most often cited by research in Genetics (1.7k citations), Molecular Biology (2.1k citations), Cell Biology (463 citations), Genetics (242 citations) and Pediatrics, Perinatology and Child Health (394 citations). John Tolmie has collaborated with scholars based in United Kingdom, United States and Hungary. Frequent co-authors include Alexander Cooke, John B.P. Stephenson, E. Boyd, M.A. Ferguson‐Smith, David Fitzpatrick, Nabeel A. Affara, Yanick J. Crow, Roland Lill, Gyula Kispál and Edward J. Fitzsimons. Their work appears in journals such as Journal of Medical Genetics, Prenatal Diagnosis, Clinical Genetics, The American Journal of Human 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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John Tolmie

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