| # | Title | Journal | Year | Citations |
|---|
| 1 | Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome | Cell | 1998 | 989 |
| 2 | Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B | Nature Genetics | 1998 | 965 |
| 3 | Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly) | Nature Genetics | 2002 | 316 |
| 4 | Establishment and Characterization of an Immortalized Human Sebaceous Gland Cell Line (SZ95)1 | Journal of Investigative Dermatology | 1999 | 313 |
| 5 | Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder | American Journal of Human Genetics | 2009 | 217 |
| 6 | Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene | American Journal of Human Genetics | 2000 | 201 |
| 7 | Characterization of ATM gene mutations in 66 ataxia telangiectasia families | Human Molecular Genetics | 1999 | 191 |
| 8 | Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B | Nature Genetics | 1999 | 191 |
| 9 | An essential function for NBS1 in the prevention of ataxia and cerebellar defects | Nature Medicine | 2005 | 155 |
| 10 | Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) | Annals of Neurology | 2003 | 141 |
| 11 | Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster | Human Molecular Genetics | 1996 | 132 |
| 12 | Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations | European Journal of Human Genetics | 2000 | 130 |
| 13 | Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome | Nature Genetics | 2003 | 129 |
| 14 | Increased cancer risk of heterozygotes withNBS1 germline mutations in poland | International Journal of Cancer | 2004 | 118 |
| 15 | A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk | Breast Cancer Research and Treatment | 2010 | 115 |
| 16 | Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor | Blood | 2003 | 113 |
| 17 | Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation | Molecular and Cellular Biology | 1997 | 111 |
| 18 | Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome | European Journal of Human Genetics | 2001 | 100 |
| 19 | Chromosomal evolution of the Chinese muntjac ( Muntiacus reevesi ) | Chromosoma | 1997 | 94 |
| 20 | Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region | Annals of Neurology | 1997 | 87 |
| 21 | Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 | Journal of Cell Biology | 2009 | 83 |
| 22 | Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL) | Cancer Research | 2001 | 83 |
| 23 | Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism | American Journal of Medical Genetics Part A | 1997 | 80 |
| 24 | Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition | American Journal of Human Genetics | 2002 | 79 |
| 25 | Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen Breakage Syndrome | Medical and Pediatric Oncology | 2003 | 79 |
| 26 | Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis | American Journal of Human Genetics | 1998 | 77 |
| 27 | Hereditary spastic paraplegia caused by mutations in the SPG4 gene | European Journal of Human Genetics | 2000 | 77 |
| 28 | Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping | Human Genetics | 1997 | 66 |
| 29 | The DNA-Based Structure of Human Chromosome 5 in Interphase | American Journal of Human Genetics | 2002 | 62 |
| 30 | Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9 | European Journal of Human Genetics | 2000 | 61 |
| 31 | Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome | American Journal of Human Genetics | 1997 | 60 |
| 32 | Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome | American Journal of Medical Genetics Part A | 2002 | 52 |
| 33 | A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 | American Journal of Human Genetics | 2000 | 51 |
| 34 | Palmoplantar Keratoderma in Association with Carcinoma of the Esophagus Maps to Chromosome 17q Distal to the Keratin Gene Cluster | Genomics | 1995 | 49 |
| 35 | The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p | American Journal of Human Genetics | 1999 | 48 |
| 36 | Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC) | Human Molecular Genetics | 1996 | 47 |
| 37 | V(D)J rearrangement in Nijmegen breakage syndrome | Molecular Immunology | 2000 | 46 |
| 38 | A Common Set of at Least 11 Functional Genes Is Lost in the Majority of NF1 Patients with Gross Deletions | Genomics | 2000 | 43 |
| 39 | Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting thesonic hedgehoggene and theHLXB9gene at 7q36.3 | | 2004 | 40 |
| 40 | Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity | American Journal of Human Genetics | 2001 | 37 |
| 41 | Identification of phosphorylation and acetylation sites in ?A-crystallin of the eye lens (mus musculus) after two-dimensional gel electrophoresis | Analytical and Bioanalytical Chemistry | 2003 | 37 |
| 42 | Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family | Human Genetics | 1996 | 35 |
| 43 | Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions | | 1996 | 35 |
| 44 | Chromosome instability and nibrin protein variants in NBS heterozygotes | European Journal of Human Genetics | 2003 | 35 |
| 45 | Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25 | Genomics | 1999 | 34 |
| 46 | Phylloid Pigmentary Pattern with Mosaic Trisomy 13 | Pediatric Dermatology | 1997 | 31 |
| 47 | Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes | Journal of Medical Genetics | 2002 | 31 |
| 48 | Genetics and B-cell leukaemia | Lancet, The | 1999 | 30 |
| 49 | Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of hirschsprung disease | American Journal of Medical Genetics Part A | 2004 | 30 |
| 50 | Evolution of the gonosomal heterochromatin of Microtus agrestis: rapid amplification of a large, multimeric, repeat unit containing a 3.0-kb (GATA)n-positive, middle repetitive element | Cytogenetic and Genome Research | 1996 | 28 |
