Patrick Rump

4.7k citations

71 papers · 3.6k · 1 hit paper · h-index 33

Impact in

Genetics top 1%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
Developmental Biology top 5%

Papers in

Genetics 42
- Genomics and Rare Diseases 21
- Genetics and Neurodevelopmental Disorders 18
- Genomic variations and chromosomal abnormalities 7
- Connective tissue disorders research 4
Nutrition and Dietetics 7
- Fatty Acid Research and Health 7

Co-authors: Gerard Hornstra (14 shared papers)Anthonie J. van Essen (5 shared papers)Arnold D.M. Kester (2 shared papers)Conny M.A. van Ravenswaaij‐Arts (8 shared papers)Birgit Sikkema‐Raddatz (6 shared papers)Ronald P. Mensink (2 shared papers)Yvonne J. Vos (5 shared papers)Trijnie Dijkhuizen (5 shared papers)
Journals: Nature Genetics (6 papers)The American Journal of Human Genetics (5 papers)European Journal of Human Genetics (4 papers)Genetics in Medicine (4 papers)Clinical Genetics (3 papers)
Partner nations: Netherlands United States Germany

In The Last Decade

Patrick Rump

68 papers receiving 3.5k citations

Patrick Rump's Hit Papers

align trajectories log scale

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability 2016 · 351 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.

2016 Nature Neuroscience

Peers

Countries citing papers authored by Patrick Rump

Since Specialization

Citations

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

Fields of papers citing papers by Patrick Rump

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Patrick Rump, 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 Patrick Rump Line = papers co-authored together Patrick Rump 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 71 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability Nature Neuroscience ·Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, de Vries Bj, Marjolein H. Willemsen Hit paper breakdown →	2016	351
2	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Nature Genetics ·Claire E. Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse B. Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri	2016	241
3	Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia Nature Genetics ·Esther Meyer, Keren Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel Praveen Joseph, Niccolò Emanuele Mencacci, Apostolos Papandreou	2016	190
4	Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility Nature Genetics ·Dewi Astuti, Mark R. Morris, Wendy N. Cooper, Raymond H.J. Staals, Naomi C. Wake, Graham Fews, Harmeet Gill, Dean Gentle	2012	189
5	Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Nature Genetics ·Daniela Anne Braun, Jia Rao, Géraldine Mollet, Marie‐Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy	2017	176
6	GRIN2A -related disorders: genotype and functional consequence predict phenotype Brain ·Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp, Katie F. M. Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H. Brilstra	2018	170
7	The genetic basis of DOORS syndrome: an exome-sequencing study The Lancet Neurology ·Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay Catherine Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Anne Stewart	2013	151
8	Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis American Journal of Medical Genetics Part A ·Patrick Rump, M.P.A. Zeegers, Anthonie J. van Essen	2005	131
9	Rapid Targeted Genomics in Critically Ill Newborns PEDIATRICS ·Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman, Tom J. de Koning, Birgit Sikkema‐Raddatz, Joeri K. van der Velde, Kristin M. Abbott, Johanna C. Herkert	2017	121
10	Mutations in RARS cause hypomyelination Annals of Neurology ·Nicole Ingeborg Wolf, Gajja Sophi Salomons, Richard J. Rodenburg, Petra J. W. Pouwels, Jolanda Schieving, Terry G. J. Derks, Johanna Maria Fock, Patrick Rump	2014	90
11	A molecular and clinical study of Larsen syndrome caused by mutations in FLNB Journal of Medical Genetics ·Louise S. Bicknell, C. Farrington, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth	2006	89
12	Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates American Journal of Clinical Nutrition ·Patrick Rump, Ronald P. Mensink, Arnold D.M. Kester, Gerard Hornstra	2001	84
13	Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity Nature Genetics ·Josefine S. Witteveen, Marjolein H. Willemsen, Thaís Caroline Dallabona Dombroski, Nick H. M. van Bakel, Willy M. Nillesen, Josephus A. van Hulten, Eric J. R. Jansen, Dave Verkaik	2016	81
14	Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism Neurogenetics ·Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot	2011	77
15	Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly BMC Medical Genomics ·Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart F. Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra‐Knol, Egbert J. W. Redeker	2015	72
16	Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features The American Journal of Human Genetics ·Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański, Leah Slattery, Haley E. Streff, Francesco Vetrini, Jonathan Bernstein, Chester Brown	2017	70
17	A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis The American Journal of Human Genetics ·Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang, Delphine Héron, Kate Tatton‐Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock	2018	63
18	Determinants of overweight in a cohort of Dutch children American Journal of Clinical Nutrition ·Neeltje Vogels, D.L.A. Posthumus, Edwin C.M. Mariman, Freek G. Bouwman, Arnold D.M. Kester, Patrick Rump, Gerard Hornstra, Margriet S. Westerterp‐Plantenga	2006	62
19	Germline AGO2 mutations impair RNA interference and human neurological development Nature Communications ·Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann	2020	62
20	Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia European Journal of Human Genetics ·Annemarie H. van der Hout, Grétel Oudesluijs, Andrea Venema, Bart Mol, Patrick Rump, Han G. Brunner, Yvonne J. Vos, Anthonie J. van Essen +1 other	2008	59

About Patrick Rump

Patrick Rump is a scholar working on Genetics, Nutrition and Dietetics, Pediatrics, Perinatology and Child Health, Psychiatry and Mental health and Developmental Biology, having authored 71 papers that have together received 3.6k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (21 papers), Genetics and Neurodevelopmental Disorders (18 papers), Epilepsy research and treatment (7 papers), Genomic variations and chromosomal abnormalities (7 papers), Fatty Acid Research and Health (7 papers), Connective tissue disorders research (4 papers), Fetal and Pediatric Neurological Disorders (3 papers) and Congenital limb and hand anomalies (3 papers). The work is most often cited by research in Genetics (1.6k citations), Developmental Biology (72 citations), Pediatrics, Perinatology and Child Health (215 citations), Psychiatry and Mental health (282 citations) and Developmental Neuroscience (48 citations). Patrick Rump has collaborated with scholars based in Netherlands, United States and Germany. Frequent co-authors include Gerard Hornstra, Anthonie J. van Essen, Arnold D.M. Kester, Conny M.A. van Ravenswaaij‐Arts, Birgit Sikkema‐Raddatz, Ronald P. Mensink, Yvonne J. Vos, Trijnie Dijkhuizen, Richard J. Sinke and Katharina Löhner. Their work appears in journals such as Nature Genetics, The American Journal of Human Genetics, European Journal of Human Genetics, Genetics in Medicine and Clinical 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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Patrick Rump

Patrick Rump's Hit Papers

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Fields of papers citing papers by Patrick Rump

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About Patrick Rump

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