Katrin Õunap

10.1k citations

107 papers · 1.8k · h-index 25

Impact in

Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders
Genetics top 2%
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting

Papers in

Molecular Biology 57
- Epigenetics and DNA Methylation 12
- Mitochondrial Function and Pathology 9
Genetics 51
- Genomic variations and chromosomal abnormalities 22
- Genetics and Neurodevelopmental Disorders 14
- Genomics and Rare Diseases 13
- Genetic Syndromes and Imprinting 12

Co-authors: Tiia Reimand (33 shared papers)Sander Pajusalu (31 shared papers)Riina Žordania (22 shared papers)Oliver Bartsch (11 shared papers)Eve Õiglane‐Shlik (17 shared papers)Inga Talvik (14 shared papers)Tiina Kahre (20 shared papers)Olga Žilina (13 shared papers)
Journals: European Journal of Medical Genetics (10 papers)European Journal of Human Genetics (6 papers)Journal of Inherited Metabolic Disease (4 papers)Journal of Child Neurology (3 papers)Pediatric Neurology (3 papers)
Partner nations: Estonia United States Germany

In The Last Decade

Katrin Õunap

105 papers receiving 1.8k citations

Peers

Countries citing papers authored by Katrin Õunap

Since Specialization

Citations

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

Fields of papers citing papers by Katrin Õunap

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Katrin Õunap, 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 Katrin Õunap Line = papers co-authored together Katrin Õunap 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 107 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions European Journal of Human Genetics ·Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein‐Hitpaß, Deniz Kanber, Katrin Õunap, Marc Kaulisch, Dietmar Lohmann	2011	76
2	Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy American Journal of Medical Genetics Part A ·Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu, Margus Ennok, Rita Teek, Sander Pajusalu, Ülle Murumets, Tiiu Tomberg, Sanna Puusepp, Andres Piirsoo, Tiia Reimand, Katrin Õunap	2016	62
3	Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG Genetics in Medicine ·Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta Sykut‐Cegielska, Andrew C. Edmondson, Miao He, Éva Morava	2020	58
4	Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development American Journal of Medical Genetics Part A ·Katrin Õunap, Raivo Uibo, Riina Žordania, Liina Kiho, Tiiu Ilus, Eve Õiglane‐Shlik, Oliver Bartsch	2004	55
5	De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders Journal of Child Neurology ·Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals, Tarmo Annilo, Mari Nelis, Katrin Õunap, Tiia Reimand, Inga Talvik, Pilvi Ilves, Andres Piirsoo, Enn Seppet, Andres Metspalu, Tiina Talvik	2013	52
6	Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity Human Molecular Genetics ·Emily Brookes, Benoît Laurent, Katrin Õunap, Renée Carroll, John B. Moeschler, Michael Field, Charles E. Schwartz, Jozef Gécz, Yang Shi	2015	52
7	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression Journal of Inherited Metabolic Disease ·Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut‐Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert McFarland, Dorus Kouwenberg, Miranda Theodore, Frits A. Wijburg, Stephanie Grünewald, Jaak Jaeken, Ron A. Wevers, Leo Nijtmans, Joanna L. Elson, Éva Morava	2011	50
8	An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase European Journal of Human Genetics ·Veronica M. Pravatà, Michaela Omelková, Marios P. Stavridis, Chelsea Desbiens, Hannah Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells, Daan M. F. van Aalten	2020	47
9	Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains Human Mutation ·Lieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, Jelle Verbeeck, Stefanie Belet, Martine Raynaud, Annick Vogels, Katrin Männik, Katrin Õunap, Jacqueline Vigneron, Sylvain Briault, Hilde Van Esch, Patrizia D’Adamo, Guy Froyen	2013	47
10	DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion American Journal of Medical Genetics Part A ·Oliver Bartsch, Michaela Nemecková, Eduard Kočárek, Annett Wagner, Alena Puchmajerová, Maja Poppe, Katrin Õunap, P Goetz	2003	42
11	The screening of SLC6A8 deficiency among Estonian families with X‐linked mental retardation Journal of Inherited Metabolic Disease ·Helen Puusepp, Kerstin Käll, Gajja S. Salomons, Inga Talvik, Mairi Männamaa, Reet Rein, C. Jakobs, Katrin Õunap	2009	39
12	Fertility in adult women with classic galactosemia and primary ovarian insufficiency Fertility and Sterility ·Britt van Erven, Gerard T. Berry, David Cassiman, Geraldine Connolly, María Forga, Matthias Gautschi, Cynthia S. Gubbels, Carla E. M. Hollak, Mirian C. H. Janssen, Ina Knerr, Philippe Labrune, Janneke G. Langendonk, Katrin Õunap, Abel Thijs, Rein Vos, Saskia B. Wortmann, M. Estela Rubio‐Gozalbo	2017	39
13	A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability FEBS Letters ·Veronica M. Pravatà, Mehmet Gundogdu, Sergio G. Bartual, Andrew T. Ferenbach, Marios P. Stavridis, Katrin Õunap, Sander Pajusalu, Riina Žordania, Monica H. Wojcik, Daan M. F. van Aalten	2019	34
14	Recommendations for reporting results of diagnostic genomic testing European Journal of Human Genetics ·Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth Dequeker, Mick Henderson, Luca Lovrečić, Katrin Õunap, Melody Tabiner, Rebecca J. L. Treacy, Christi J. van Asperen	2022	32
15	Treatment outcome of creatine transporter deficiency: international retrospective cohort study Metabolic Brain Disease ·Theodora U. J. Bruun, Sarah Sidky, Anabela Bandeira, Francoise-Guillaume Debray, Can Fıçıcıoğlu, Jennifer Goldstein, Kairit Joost, Dwight D. Koeberl, (unknown), Marie‐Cécile Nassogne, Siobhán O’Sullivan, Katrin Õunap, Andreas Schulze, Lionel Van Maldergem, Gajja S. Salomons, Saadet Mercimek‐Andrews	2018	32
16	A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability European Journal of Medical Genetics ·Katrin Õunap, Helen Puusepp‐Benazzouz, Maire Peters, Ulvi Vaher, Reet Rein, Anné Proos, Mike Field, Tiia Reimand	2012	32
17	Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia Molecular Genetics and Metabolism Reports ·Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap	2018	30
18	Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia Molecular Genetics and Metabolism ·Agnieszka Jurecka, Ewa Piotrowska, Loreta Cimbalistienė, Nina Gusina, Agnieszka Sobczyńska, Barbara Czartoryska, Kamila Czerska, Katrin Õunap, Grzegorz Węgrzyn, Anna Tylki‐Szymańska	2011	29
19	Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature Clinical Epigenetics ·Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia	2020	29
20	Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism The American Journal of Human Genetics ·Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, I Abramowiçz, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M. Leong, Ruth Newbury‐Ecob, Rachel Challis, Katrin Õunap, Jacques Jaeken, Eve Seuntjens, Koenraad Devriendt, Ezra Burstein, Karen Low, Mark O’Driscoll	2019	27

About Katrin Õunap

Katrin Õunap is a scholar working on Molecular Biology, Genetics, Pediatrics, Perinatology and Child Health, Clinical Biochemistry and Physiology, having authored 107 papers that have together received 1.8k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (22 papers), Metabolism and Genetic Disorders (18 papers), Genetics and Neurodevelopmental Disorders (14 papers), Prenatal Screening and Diagnostics (13 papers), Genomics and Rare Diseases (13 papers), Epigenetics and DNA Methylation (12 papers), Genetic Syndromes and Imprinting (12 papers) and Mitochondrial Function and Pathology (9 papers). The work is most often cited by research in Clinical Biochemistry (219 citations), Genetics (780 citations), Molecular Biology (905 citations), Pediatrics, Perinatology and Child Health (208 citations) and Cell Biology (117 citations). Katrin Õunap has collaborated with scholars based in Estonia, United States and Germany. Frequent co-authors include Tiia Reimand, Sander Pajusalu, Riina Žordania, Oliver Bartsch, Eve Õiglane‐Shlik, Inga Talvik, Tiina Kahre, Olga Žilina, Karit Reinson and Mari‐Anne Vals. Their work appears in journals such as European Journal of Medical Genetics, European Journal of Human Genetics, Journal of Inherited Metabolic Disease, Journal of Child Neurology and Pediatric Neurology.

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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Katrin Õunap

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About Katrin Õunap

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