Jaakko Ignatius

5.9k citations

84 papers · 4.6k · 1 hit paper · h-index 33

Impact in

Genetics top 1%
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
Molecular Biology top 5%
- Congenital heart defects research
- RNA modifications and cancer
- RNA Research and Splicing

Papers in

Genetics 18
- Neurogenetic and Muscular Disorders Research 16
- Genetics and Neurodevelopmental Disorders 9
- Genomic variations and chromosomal abnormalities 6
Molecular Biology 37
- RNA modifications and cancer 8
- Mitochondrial Function and Pathology 6

Co-authors: Victor Dubowitz (8 shared papers)Kay Elizabeth Davies (4 shared papers)Louise J. Campbell (3 shared papers)Allyson C. Potter (1 shared paper)Nanda R. Rodrigues (4 shared papers)Riitta Herva (5 shared papers)Kevin Talbot (3 shared papers)Nicholas Owen (3 shared papers)
Journals: The American Journal of Human Genetics (6 papers)Journal of Medical Genetics (5 papers)Human Mutation (3 papers)Human Genetics (3 papers)Human Molecular Genetics (3 papers)
Partner nations: Finland United States United Kingdom

In The Last Decade

Jaakko Ignatius

81 papers receiving 4.3k citations

Jaakko Ignatius's Hit Papers

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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. 1997 · 961 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

1997 Journal of Medical Genetics

Peers

Countries citing papers authored by Jaakko Ignatius

Since Specialization

Citations

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

Fields of papers citing papers by Jaakko Ignatius

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Jaakko Ignatius, 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 Jaakko Ignatius Line = papers co-authored together Jaakko Ignatius 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 84 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Journal of Medical Genetics ·A K Ryan, Judith A. Goodship, David I. Wilson, Neena Elezebeth Philip, A. Lévy, Holger Seidel, Simone Schuffenhauer, H Oechsler Hit paper breakdown →	1997	961
2	Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males The American Journal of Human Genetics ·Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke W. J. C. Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu	2005	522
3	Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype The American Journal of Human Genetics ·Louise J. Campbell, Allyson C. Potter, Jaakko Ignatius, Victor Dubowitz, Kay Elizabeth Davies	1997	282
4	Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy Human Molecular Genetics ·Nanda R. Rodrigues, Nicholas Owen, Kevin Talbot, Jaakko Ignatius, Victor Dubowitz, K.E. Davies	1995	199
5	Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease Nature Genetics ·Heidi O. Nousiainen, Marjo Kestilä, Niklas A. Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri S. Vuopala, Jaakko Ignatius	2008	159
6	Update on Kleefstra Syndrome Molecular Syndromology ·Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, W.M. Wissink-Lindhout, Hans van Bokhoven, Neena Elezebeth Philip, Elizabeth Berry-Kravis, Usha Kini	2011	142
7	Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment Annals of Neurology ·Marilisa M. Guerreiro, E. Andermann, Renzo Guerrini, William B. Dobyns, Ruben Kuzniecky, Kristin E. Silver, Patrick Van Bogaert, C. Gillain	2000	132
8	Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development Neuron ·Richard Scott Smith, Connor J. Kenny, Vijay S Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, Robert Sean Hill, Taehwan Shin	2018	119
9	Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly Human Molecular Genetics ·Stephen W. Scherer, Parvoneh Poorka, Hillary F. Massa, Sylvia Soder, Todd M. Allen, Mark E. Nuñes, Dorrit Geshurl, Eddy Wong	1994	106
10	Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy Journal of Clinical Investigation ·John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake, Massimo Attanasio, Edgar A. Otto, Dominik Seelow, Gudrun Nürnberg	2010	104
11	Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population The American Journal of Human Genetics ·Elina Laiho, Jaakko Ignatius, Hanna K. A. Mikkola, Vivien C. Yee, David C. Teller, Kirsti‐Maria Niemi, Ulpu Saarialho‐Kere, Juha Kere	1997	100
12	A Fourth Example Suggests That Premature Termination Codons in the COL2A1 Gene Are a Common Cause of the Stickler Syndrome: Analysis of the COL2A1 Gene by Denaturing Gradient Gel Electrophoresis Genomics ·Pertti Ritvaniemi, James C. Hyland, Jaakko Ignatius, Kari I. Kivirikko, Darwin J. Prockop, Leena Ala‐Kokko	1993	77
13	Gene deletions in spinal muscular atrophy. Journal of Medical Genetics ·Nanda R. Rodrigues, Nicholas Owen, Kevin Talbot, Shobna Patel, Francesco Muntoni, Jaakko Ignatius, Victor Dubowitz, Kay Elizabeth Davies	1996	77
14	Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies Human Mutation ·Kaisa Silander, Päivi Meretoja, Vesa Juvonen, Jaakko Ignatius, Helena S. Pihko, Ari Saarinen, Tiina Wallden, Eila A. Herrgård	1998	76
15	Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population Human Molecular Genetics ·Tarja Laitinen, Paula Kauppi, Jaakko Ignatius, Teemu Ruotsalainen, Mark Daly, Helena A. Kääriäinen, Leonid Kruglyak, H. Laitinen	1997	72
16	SMN gene deletion in variant of infantile spinal muscular atrophy The Lancet ·Lydie Bürglen, Roland Spiegel, Jaakko Ignatius, Jan-Maarten Cobben, P. Landrieu, Solene N. Lefebvre, Arnold Münnich, Judith Melki	1995	64
17	Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort Thyroid ·Christoffer Löf, Konrad Patyra, Teemu Kuulasmaa, Jagadish Vangipurapu, Henriette Undeutsch, Holger Jaeschke, Tuulia Pajunen, Andreina E. Kero	2016	62
18	Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland—An epidemiological study American Journal of Medical Genetics Part A ·Niklas A. Pakkasjärvi, Annukka Ritvanen, Riitta Herva, Leena Peltonen, Marjo Kestilä, Jaakko Ignatius	2006	59
19	Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia European Journal of Human Genetics ·Jenni Jonasson, Vesa Juvonen, Pertti Sistonen, Jaakko Ignatius, Daniel P. Johansson, Erik Björck, Jan L. Wahlstrom, Atle Melberg	2000	51
20	Pitt–Hopkins syndrome in two patients and further definition of the phenotype Clinical Dysmorphology ·Maarit M. Peippo, Kalle O. J. Simola, Leena K. Valanne, Andreo T. Larsen, Marketta Kähkönen, Mari Auranen, Jaakko Ignatius	2006	51

About Jaakko Ignatius

Jaakko Ignatius is a scholar working on Genetics, Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health and Cellular and Molecular Neuroscience, having authored 84 papers that have together received 4.6k indexed citations. Recurring topics across this work include Neurogenetic and Muscular Disorders Research (16 papers), Genetics and Neurodevelopmental Disorders (9 papers), RNA modifications and cancer (8 papers), Congenital Anomalies and Fetal Surgery (7 papers), Genetic Neurodegenerative Diseases (7 papers), Mitochondrial Function and Pathology (6 papers), Genomic variations and chromosomal abnormalities (6 papers) and Prenatal Screening and Diagnostics (6 papers). The work is most often cited by research in Genetics (906 citations), Genetics (1.7k citations), Molecular Biology (2.7k citations), Developmental Biology (76 citations) and Cell Biology (362 citations). Jaakko Ignatius has collaborated with scholars based in Finland, United States and United Kingdom. Frequent co-authors include Victor Dubowitz, Kay Elizabeth Davies, Louise J. Campbell, Allyson C. Potter, Nanda R. Rodrigues, Riitta Herva, Kevin Talbot, Nicholas Owen, Guy Froyen and Juha Kere. Their work appears in journals such as The American Journal of Human Genetics, Journal of Medical Genetics, Human Mutation, Human Genetics and Human Molecular 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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Jaakko Ignatius's Hit Papers

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