Each year, the European Journal of Human Genetics and Nature Publishing Group, award the EJHG prize for the most cited research papers published in the European Journal of Human Genetics in the first calendar year following their publication.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1. Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, Michael Petersen, Karen Brøndum-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, François 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