| # | Title | Journal | Year | Citations |
|---|
| 1 | Identification of the familial cylindromatosis tumour-suppressor gene | Nature Genetics | 2000 | 640 |
| 2 | Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene | Science | 2006 | 557 |
| 3 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 4 | A recurrent mutation in PALB2 in Finnish cancer families | Nature | 2007 | 402 |
| 5 | A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 | Nature Medicine | 1998 | 347 |
| 6 | Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles | American Journal of Human Genetics | 2003 | 345 |
| 7 | Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease | Nature Medicine | 2000 | 276 |
| 8 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families | Journal of Clinical Oncology | 2020 | 270 |
| 9 | Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism | JAMA Neurology | 2016 | 234 |
| 10 | DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer | Human Molecular Genetics | 1996 | 198 |
| 11 | Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology | American Journal of Pathology | 2001 | 191 |
| 12 | RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability | Carcinogenesis | 2005 | 179 |
| 13 | Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 173 |
| 14 | Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis | American Journal of Human Genetics | 1998 | 142 |
| 15 | Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome | American Journal of Medical Genetics Part A | 2002 | 135 |
| 16 | A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3 | Human Mutation | 2018 | 116 |
| 17 | A lethal autosomal recessive syndrome of multiple congenital contractures | American Journal of Medical Genetics Part A | 1985 | 102 |
| 18 | Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum | American Journal of Human Genetics | 2018 | 102 |
| 19 | Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description | Annals of Neurology | 1994 | 95 |
| 20 | Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations | American Journal of Medical Genetics, Part A | 2016 | 91 |
| 21 | Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation | American Journal of Human Genetics | 1999 | 90 |
| 22 | Large genomic rearrangements and germline epimutations in Lynch syndrome | International Journal of Cancer | 2009 | 80 |
| 23 | Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations | Journal of Allergy and Clinical Immunology | 2020 | 78 |
| 24 | Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland | European Journal of Human Genetics | 2000 | 75 |
| 25 | Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: Indications of TSLC1 promoter hypermethylation | Genes Chromosomes and Cancer | 2002 | 74 |
| 26 | Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium† | Human Molecular Genetics | 2011 | 71 |
| 27 | ADA2 deficiency: Clonal lymphoproliferation in a subset of patients | Journal of Allergy and Clinical Immunology | 2018 | 71 |
| 28 | The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with <i>Bgl</i>I | Cytogenetic and Genome Research | 1992 | 70 |
| 29 | Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa | American Journal of Human Genetics | 2015 | 70 |
| 30 | Mutation analysis of the CHK2gene in families with hereditary breast cancer | British Journal of Cancer | 2001 | 69 |
| 31 | Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion | Annals of Neurology | 2000 | 68 |
| 32 | Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans | Nature Communications | 2019 | 67 |
| 33 | Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements ofPITX2 | | 2011 | 63 |
| 34 | The Expression of AIP-Related Molecules in Elucidation of Cellular Pathways in Pituitary Adenomas | American Journal of Pathology | 2009 | 61 |
| 35 | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family | Journal of Medical Genetics | 2010 | 58 |
| 36 | Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies | | 2005 | 56 |
| 37 | Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions | Science Translational Medicine | 2012 | 54 |
| 38 | Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia | European Journal of Human Genetics | 1999 | 53 |
| 39 | Loss of heterozygosity at chromosomes 3, 6, 8, 11, 16, and 17 in ovarian cancer: | Cancer Genetics and Cytogenetics | 2000 | 53 |
| 40 | Cell lineage involvement of recurrent chromosomal abnormalities in hematologic neoplasms | Genes Chromosomes and Cancer | 1994 | 48 |
| 41 | Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families | Cancer Genetics and Cytogenetics | 2001 | 42 |
| 42 | Association of commonATM polymorphism with bilateral breast cancer | International Journal of Cancer | 2005 | 42 |
| 43 | Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites | British Journal of Cancer | 2001 | 38 |
| 44 | Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies | Journal of Medical Genetics | 2006 | 38 |
| 45 | Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation | European Journal of Endocrinology | 2007 | 38 |
| 46 | Chromosome 11q22.3-q25 LOH in Ovarian Cancer: Association with a More Aggressive Disease Course and Involved Subregions | Gynecologic Oncology | 1998 | 37 |
| 47 | Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa | European Journal of Human Genetics | 2014 | 34 |
| 48 | Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis | Nature Communications | 2017 | 33 |
| 49 | Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures | Epilepsia | 1995 | 32 |
| 50 | Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented | American Journal of Medical Genetics, Part A | 2006 | 32 |
