John Tolmie

11.1k citations

108 papers · 3.5k indexed · h-index 32

Genetics top 1%
- Genomic variations and chromosomal abnormalities 27
- Genetics and Neurodevelopmental Disorders 14
- Connective tissue disorders research 11
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 10
- Genetic Syndromes and Imprinting 9
Molecular Biology top 5%
- Congenital heart defects research 9
- Sexual Differentiation and Disorders 8
Cell Biology top 2%
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics 13
Genetics top 5%
- Genomic variations and chromosomal abnormalities 27
- Genetics and Neurodevelopmental Disorders 14
- Connective tissue disorders research 11
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 10
- Genetic Syndromes and Imprinting 9

Co-authors: Alexander Cooke John B.P. Stephenson E. Boyd David Fitzpatrick M.A. Ferguson‐Smith Nabeel A. Affara Yanick J. Crow Roland Lill
Cited by: Genetics Molecular Biology Cell Biology
Journals: Journal of Medical Genetics (25 papers)Prenatal Diagnosis (6 papers)Clinical Genetics (6 papers)
Partner nations: United Kingdom United States Hungary

In The Last Decade

John Tolmie

104 papers receiving 3.4k 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-authorship network

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

#	Work
1	Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients Scientific Reports ·Nanna Dahl Rendtorff,Hyunbae Chun Dongyun Yang,Marianne Lodahl,John Tolmie,Catherine McWilliam,Mads Bak,Niels Tommerup,Lusine Nazaryan‐Petersen,Henricus P. M. Kunst,Melanie Wong,Shelagh Joss,Valério Carelli,Lisbeth Tranebjærg	2022	3
2	Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA Journal of Molecular Medicine ·Margriet van Kogelenberg,Alice R. Clark,Zandra A. Jenkins,Tim Morgan,Ana Clara Vian,Gregory M. Sawyer,Matthew Edwards,Tracy Dudding,Tessa Homfray,Bruce Castle,John Tolmie,Fiona Stewart,Emma Kivuva,Daniela T. Pilz,Michael T. Gabbett,Andrew J. Sutherland‐Smith,Stephen P. Robertson	2015	9
3	Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Circulation Cardiovascular Genetics ·Laura Southgate,Maja Sukalo,Φανή Κατσαβούνη,Edward J. Taylor,Yolanda Teixeira Duarte,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	70
4	SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan European Journal of Human Genetics ·Pasquale Piccolo,Pratibha Mithbaokar,Penny J. McCowen,John Tolmie,Daniela Melis,Maria Cristina Schiaffino,Mirella Filocamo,Generoso Andria,Nicola Brunetti‐Pierri	2014	32
5	46,XX pure gonadal dysgenesis with tall stature due to an Xq21.2 deletion 穣中榮,John Tolmie,Malcolm Donaldson	2013	1
6	Clinical features and respiratory complications in Myhre syndrome European Journal of Medical Genetics ·Ruth McGowan,Doyle,P.M. McHenry,Alexander Cooke,韩建红,Wee Teik Keng,Victoria Murday,Margo Whiteford,Frederik G. Dikkers,Hajouji Abderrahmane,Ton van Essen,John Tolmie	2011	24
7	The face of Ulnar Mammary syndrome? European Journal of Medical Genetics ·Shelagh Joss,Usha Kini,Richard Fisher,Stefan Mundlos,Katrina Prescott,Ruth Newbury‐Ecob,John Tolmie	2011	12
8	17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype Cytogenetic and Genome Research ·Freddie H. Sharkey,Norma Morrison,Ronald S. Murray,James Iremonger,Stephen J. Johnson,E.R. Maher,John Tolmie,Andrew P. Jackson	2009	17
9	Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe Eye ·Cornelia Rifka,Dipika V. Patel,Allan J. Richards,Martin P. Snead,John Tolmie,W. Robert Lee	2005	5
10	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	51
11	Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties Clinical Dysmorphology ·三四郎横山,Alexander D. Cameron,I. Grin,John Tolmie,A. Graham Wilkinson,Malcolm Donaldson	1998	2
12	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,I Mazurenko,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	147
13	Batten Disease in the West of Scotland 1974-1995 Including Five Cases of the Juvenile Form with Granular Osmiophilic Deposits Neuropediatrics ·Yanick J. Crow,John Tolmie,A.F. Howatson,W. Patrick,A Velozo	1997	20
14	X‐Linked Hydrocephalus Masquerading as Spina Bifida and Destructive Porencephaly in Successive Generations in One Family Developmental Medicine & Child Neurology ·Yunjin Choi,J. Lindner-Dominguez,Ma del Rosario Maqueda González,J Stephenson,John Tolmie	1996	5
15	Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment Clinical Genetics ·Angela Barnicoat,K. Soldaat,E. Boyd,Zoe Docherty,Katharine Kolcaba PhD Rn C,J. L. Huret,Marissa King,Edna L. Maltby,Masahide Terahata,SHIRIC IRANI K. JEYAPALAN J. MCHUGO J. A.,Benjamin S. Rush,M Super,John Tolmie	1996	11
16	Molecular genetic analysis of the 3p — syndrome Human Molecular Genetics ·Maude E. Phipps,Farida Latif,Amanda Prowse,Stewart J. Payne,Jeanne Dietz‐Band,Margaret Leversha,Nabeel A. Affara,Anthony T. Moore,John Tolmie,Albert Schinzel,Michael I. Lerman,M.A. Ferguson‐Smith,Eamonn R. Maher	1994	37
17	Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry American Journal of Medical Genetics ·Alexander Cooke,John Tolmie,Alyssa C Kirlin,E. Boyd,Leidiane Soares Pereira,Robert W. Day,John B.P. Stephenson,L. Carrizales-Silva	1989	20
18	Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry Human Genetics ·Alexander Cooke,John Tolmie,Peng-Fei Peng,Pablo Tapia Telecommunications Engineering,James Connor	1989	10
19	Congenital cutis laxa with retardation of growth and development. Journal of Medical Genetics ·M A Patton,John Tolmie,Jason Albert Wertz,Laurence Philippon,M Baraitser,Montserrat Carrasco-López	1987	29
20	Normal development in two six‐year‐old boys born after prenatal diagnosis of trisomy 20 mosaicism Prenatal Diagnosis ·John Tolmie,Malcolm Ferguson-Smith,I. Morozowska,M.A. Ferguson‐Smith	1987	7

About John Tolmie

John Tolmie is a scholar working on Genetics, Pediatrics, Perinatology and Child Health, Developmental Biology, Molecular Biology and Clinical Biochemistry, having authored 108 papers that have together received 3.5k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (27 papers), Genetics and Neurodevelopmental Disorders (14 papers), Prenatal Screening and Diagnostics (13 papers), Connective tissue disorders research (11 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (10 papers), Genetic Syndromes and Imprinting (9 papers), Congenital heart defects research (9 papers) and Sexual Differentiation and Disorders (8 papers). The work is most often cited by research in Genetics (1.7k citations), Molecular Biology (2.1k citations), Cell Biology (463 citations), Pediatrics, Perinatology and Child Health (402 citations) and Genetics (213 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, David Fitzpatrick, M.A. Ferguson‐Smith, Nabeel A. Affara, Yanick J. Crow, Roland Lill, Heike Lange 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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