The European Society
of Human Genetics

GertJan van Ommen Citation Awards

GertJan van Ommen Citation Awards

Each year, the European Journal of Human Genetics and Nature Publishing Group, award the GertJan van Ommen Citation Award (formerly EJHG-SpringerNature Citation Award) for the most cited research papers published in the European Journal of Human Genetics in the first calendar year following their publication.

The Award has been named after Prof. GertJan van Ommen, editor-in-chief of the European Journal of Human Genetics from 1999-2020 a

The 1st place is awarded with EUR 500, places 1-3 with a free one-year ESHG membership and free registration to the next conference.

Awardees 2023

1. Sergio Daga and Chiara Fallerini. 
Medical Genetics, Univeristy of Siena, Italy. Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research. EJHG 29-5, 10.1038/s41431-020-00793-7. 
15 citations

2. Felicity Boardman. 
Warwick Medical School, University of Warwick, United Kingdom. What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions. EJHG 30-2, 10.1038/s41431-021-00962-2. 
12 citations

3. Hui Luo, Dan Liu and Wenbing Liu. 
ongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China/Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, China. Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. EJHG 29-8, 10.1038/s41431-021-00886-x. 
11 citations.

Awardees 2022

1. Elisa Benetti and Rossella Tita.
Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy/Medical Genetics, Azienda Ospedaliera Universitaria Senese,Siena, Italy. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. EJHG 28-11, 10.1038/s41431-020-0691-z.
83 citations

2. Stéphanie Nguengang Wakap.
ORPHANET, INSERM, France.  Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. EJHG 28-2, 10.1038/s41431-019-0508-0
63 citations

3. Carin A.T.C. Lunenburg and Cathelijne H. van der Wouden.
Affective Disorders, Aarhus University Hospital Psychiatry, Denmark/Clinical Pharmacy & Toxicology, Leiden University Medical Center, The Netherlands. Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines. EJHG 28-4, 10.1038/s41431-019-0540-0. 
27 citations

Awardees 2021

1. Kelly E. Ormond
Department of Genetics, Stanford University, United States and Department of Health Sciences and Technology, ETH Zürich, Switzerland. The global state of the genetic counseling profession.  EJHG 27-2, 10.1038/s41431-018-0252-x.
56 citations

2. Adrian Thorogood
Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Luxembourg. Return of individual genomic research results: are laws and policies keeping step? EJHG 27-4, 10.1038/s41431-018-0311-3.
27 citations

3. Margherita Maioli
Department of Medical Genetics and Rare Orthopedic Diseases, IRCCS Istituto Ortopedico Rizzoli, Italy. Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. EJHG 27-7, 10.1038/s41431-019-0373-x.
17 citations

Awardees 2020

1. Eliana Marisa Ramos
Semel Institute for Neuroscience and Human Behavior, UCLA, Department of Psychiatry and Biobehavioral Sciences. Los Angeles, CA 90095, United States. Primary brain calcification: an international study reporting novel variants and associated phenotypes.  EJHG 26-10, 10.1038/s41431-018-0185-4.
16 citations

2. Ondrej Pös.
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia. Circulating cell-free nucleic acids: characteristics and applications. EJHG 26-7, 10.1038/s41431-018-0132-4. 
11 citations.

2. Mélanie Rama
Centre Hospitalier Régional Universitaire de Lille, Hospital Jeanne de Flandre, Lille, France. A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. EJHG 26-7, 10.1038/s41431-018-0130-6. 
11 citations

Awardees 2019

1. Trujillano D, et al.
Clinical exome sequencing –results from 2,819 samples reflecting 1,000 families European Journal of Human Genetics volume 25, pages176–182 (2017)
17 citations.

2. Ameur A, et al.
SweGen: A whole-genome data resource of genetic variability in a cross-section of the Swedish population
European Journal of Human Genetics volume25, pages1253–1260 (2017)
11 citations.

3. Edvardson S, et al.
tRNA N6-adenosine threonylcarbamoyltransferase defectdue to KAE1/TCS3 (OSGEP ) mutation manifest by neurodegeneration and renal tubulopathy
European Journal of Human Genetics volume 25, pages 545–551 (2017)
09 citations

Awardees 2018

1. Mussa A, et al.
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
European Journal of Human Genetics volume24, pages183-190 (2016)
16 citations.

2. Middleton A, et al.
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
European Journal of Human Genetics volume24, pages21-29 (2016)
14 citations.

3. Togneri F, et al.
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA
European Journal of Human Genetics volume24, pages1167-1174 (2016)
10 citations

Honorary Award 2018: Matthijs G, et al.
Guidelines for diagnostic next-generation sequencing
European Journal of Human Genetics (2016) 24, 2-5; doi: 10.1038/ejhg.2015.226
22 citations

Awardees 2017

1. Dondorp W, et al.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. European Society of Human Genetics.; American Society of Human Genetics. EJHG 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18. 
22 citations.

2. Kaye J, et al.
Dynamic consent: a patient interface for twenty-first century research networks. 
EJHG 2015 Feb;23(2):141-6. doi: 10.1038/ejhg.2014.71. Epub 2014 May 7. 
18 citations.

3. Bayindir B, et al.
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. 
Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/EJHG 2014.282. Epub 2015 Jan 14. 
13 citations

Awardees 2016

1. L Castéra et al.
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
EJHG 22/11 (2014)
31 Citations

2. N Glöckle et al.
Panel-based Next Generation Sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
EJHG 22/1 (2014)
16 Citations

3. P Deelen et al.
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands’
EJHG 22/11 (2014)
15 Citations

Special Honour: DI Boomsma et al.
The Genome of the Netherlands: design, and project goals
EJHG 22/2 (2014)
16 Citations

Awardees 2015

1= BN Smith et al.
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
EJHG 21/1 (2013)
19 Citations

1= C  Andreasen et al.
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
EJHG 21/9 (2013)
19 Citations

3. L Broer et al.
Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect
EJHG 21/10 (2013)
18 Citations

Awardees 2014

1. C Gilssen et al.
Disease gene identification strategies for exome sequencing
EJHG 20/5 (2012)
45 Citations

2. J Huang et al.
1000 Genomes based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium (WTCCC) phase 1 Data
EJHG 20/7 (2012)
24 Citations

3. L Refsgaard et al.
High prevalence of genetic variants previously associated with LQT syndrome in new exome data
EJHG 20/8 (2012)
22 Citations

Awardees 2013

1. J Simon-Sanchez et al.
Genome-wide association study confirms extant PD risk loci among the Dutch
EJHG 19/6 (2011)
34 Citations

2. ER Maher et al.
von Hippel-Lindau disease: A clinical and scientific review
EJHG 19/6 (2011)
27 Citations

3. NM Myres et al.
A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe
EJHG 19/1 (2011)
26 Citations

Awardees 2012

1. G Peng et al.
Gene and pathway-based second-wave analysis of genome-wide association studies
EJHG 18/01 (2010)
31 citations

2. C Chalas-Boissonnas et al.
Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men
EJHG 18/1 (2010)
29 Citations

3. AL Duker et al.
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
EJHG 18/11 (2010)
27 Citations

Special Honour: R Weksberg et al.
Beckwith-Wiedemann syndrome (BWS)
EJHG 18/1 (2010)
40 Citations

Awardees 2011

1. M Ban et al.
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor
EJHG 17/10 (2009)
19 citations

2= AT Pagnamenta et al.
A 15q13.3 microdeletion segregating with autism
EJHG 17/5 (2009)
14 citations

2= R Lyle et al.
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
EJHG 17/4 (2009)
14 citations

Awardees 2010

1= SC Heath et al.
Investigation of the fine structure of European populations with applications to disease association studies
EJHG 16/12 (2008)
11 citations

1= B Skinningsrud et al.
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
EJHG 16/8 (2008)
11 citations

1= A Lawson-Yuen et al.
Familial deletion within NLGN4 associated with autism and Tourette syndrome
EJHG 16/5 (2008)
10 citations

Awardees 2009

1. M.S. Silberberg et al.
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease
EJHG 15 no. 3 (2007)
26 citations

2. Iraad F. Bronner et al.
Progranulin mutations in Dutch familial frontotemporal lobar degeneration
EJHG 15 no. 3 (2007)
22 citations

3. S. Mayans et al.
TCF7L2 polymorphisms are associated with type 2 diabetes in northern Sweden
EJHG 15 no. 3 ( 2007)
14 citations

EJHG Special Achievements Award

T. Hiekkalinna
An utter refutation of the 'Fundamental Theorem of the HapMap
EJHG 14 no. 4 (2006)
32 citations

Awardees 2008

1. Di Fonzo, A; Tassorelli, C; De Mari, M; Chien, HF; Ferreira, J; Rohe, CF; Riboldazzi, G; Antonini, A; Albani, G; Mauro, A; Marconi, R; Abbruzzese, G; Lopiano, L; Fincati, E; Guidi, M; Marini, P; Stocchi, F; Onofrj, M; Toni, V; Tinazzi, M; Fabbrini, G; Lamberti, P; Vanacore, N; Meco, G; Leitner, P; Uitti, RJ; Wszolek, ZK; Gasser, T; Simons, EJ; Breedveld, GJ; Goldwurm, S; Pezzoli, G; Sampaio, C; Barbosa, E; Martignoni, E; Oostra, BA; Bonifati, V.
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease,
EJHG Mar: 14(3): 322-331

2. Slavotinek, AM; Moshrefi, A; Davis, R; Leeth, E; Schaeffer, GB; Burchard, GE; Shaw, GM; James, B; Ptacek, L; Pennacchio, LA.
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.
EJHG Sep 14(9): 999-1008

3. Ferec, C; Casals, T; Chuzhanova, N; Macek, M; Bienvenu, T; Holubova, A; King, C; McDevitt, T; Castellani, C; Farrell, PM; Sheridan, M; Pantaleo, SJ; Loumi, O; Messaoud, T; Cuppens, H; Torricelli, F; Cutting, GR; Williamson, R; Ramos, MJA; Pignatti, PF; Raguenes, O; Cooper, DN; Audrezet, MP; Chen, JM.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
EJHG May 14(5): 567-576

Awardees 2007

1. Sarah L Sawyer, Namita Mukherjee, Andrew J Pakstis, Lars Feuk, Judith R Kidd, Anthony J Brookes and Kenneth K Kidd;
Linkage disequilibrium patterns vary substantially among populations,
EJHG May: 13(5): 677-688

2. Christina Brahe, Tiziana Vitali, Francesco D Tiziano, Carla Angelozzi, Anna Maria Pinto, Federica Borgo, Umberto Moscato, Enrico Bertini, Eugenio Mercuri and Giovanni Neri;
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients,
EJHG Feb: 13(2): 256-259

3. Georgia Salanti, Georgia Amountza, Evangelia E Ntzani and John P A Ioannidis;
Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power,
EJHG Sep: 13(7): 840-848

Awardees 2006

1. Hosking, L; Lumsden, S; Lewis, K; Yeo, A; McCarthy, L; Bansal, A; Riley, J; Purvis, I; Xu, CF;
Detection of genotyping errors by Hardy-Weinberg equilibrium testing,
EJHG, 2004 May; 12(5):395-9.
29 Citations

2. Andreassi, C; Angelozzi, C; Tiziano, FD; Vitali, T; De Vincenzi, E; Boninsegna, A; Villanova, M; Bertini, E; Pini, A; Neri, G; Brahe, C;
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy,
EJHG, 2004 Jan; 12(1):59-65.
19 Citations

3. Filippi, E; Sentinelli, F; Trischitta, V; Romeo, S; Arca, M; Leonetti, F; Di Mario, U; Baroni, MG;
Association of the human adiponectin gene and insulin resistance,
EJHG, 2004 Mar; 12(3):199-205.
16 Citations

Awardees 2005

1. Peter J P Croucher,  Mascheretti S, Hampe J, Huse K, Frenzel H, Stoll M, Lu T, Nikolaus S, Yang SK, Krawczak M, Kim WH, Schreiber S., Christian Albrechts Universitat, Kiel, Germany.
Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.
EJHG, 2003 Jan;11(1):6-16.
32 citations

2. Emer Bairead, Harmon DL, Curtis AM, Kelly Y, O'Leary C, Gardner M, Leahy DT, Vaughan P, Keegan D, O'Morain C, O'Donoghue D, Shanahan F, Parfrey NA, Quane KA, University College Cork, Ireland.
Association of NOD2 with Crohn's disease in a homogenous Irish population.
EJHG, 2003 Mar;11(3):237-44.
15 citations

3. Luciana Musante, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Max Plack Institute, Berlin, Germany.
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
EJHG, 2003 Feb;11(2):201-6.
12 citations

Awardees 2004

1. Plass, C, Soloway, PD
PDDNA methylation, imprinting and cancer
EJHG, 2002 Jan; 10(1):6-16. Review.
16 Citations

2. Audrezet, MP; Chen, JM; Le Marechal, C; Ruszniewski, P; Robaszkiewicz, M; Raguenes, O; Quere, I; Scotet, V; Ferec, C
Determination of the relative contribution of three genes - the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene - to the etiology of idiopathic chronic pancreatitis
EJHG, 2002 Feb; 10(2):100-6.
15 Citations

3. Soubrier, F; Martin, S; Alonso, A; Visvikis, S; Tiret, L; Matsuda, F; Lathrop, GM; Farrall, M
High-resolution genetic mapping of the ACE-linked QTL influencing circulating ACE activity
EJHG, 2002 Sep; 10(9):553-61.
14 Citations

Awardees 2003

1. Chiurazzi P; Hamel BCJ; Neri G.
XLMR genes: update 2000
EJHG, 2001, Feb; 9(2), 71-81
24 Citations

2. Horvath S; Xu X; Laird NM.
The family based association test method: strategies for studying general genotype-phenotype associations.
EJHG, 2001, Apr; 9(4), 301-306
21 Citations

3. Prince JA et al.
Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease.
EJHG, 2001, Jun; 9(6), 437-444
18 Citations

Awardees 2002

1. Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, Michael Petersen, Karen Bröndum-Nielsen, Andres Metspalu, Eneli Oitmaa, Marina Pisano, Paolo Fortina, Leopoldo Zelante and Xavier Estivill.
"High carrier frequency of the 35delG deafness mutation in European populations "
EJHG, 2000 Jan; 8(1):19-23
19 citations

2. Carol Dobson-Stone, Roger D. Cox, Lorne Lonie, Lorraine Southam, Maria Fraser, Carol Wise, Francois Bernier, Shirley Hodgson, Daniel E. Porter, A. Hamish R.W. Simpson and Anthony P. Monaco:
"Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses"  
EJHG, 2000 Jan; 8(1):24-32.
17 citations

3. Simone Schiller, Stephanie Spranger, Birgit Schechinger, Maki Fukami, Sabine Merker, Stenvert L.S. Drop, Jochen Tröger, Hans Knoblauch, Jürgen Kunze, Jörg Seidel and Gudrun A. Rappold:
"Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome"  
EJHG, 2000 Jan; 8(1):54-62.
17 citations