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Heikki Järvinen

Heikki Järvinen

D-Index & Metrics

Medicine

D-Index
107
Citations
50014
World Ranking
6167
National Ranking
67

Overview

Heikki Järvinen is affiliated with the University of Helsinki in Finland, contributing to research primarily within the fields of medicine and biochemistry, genetics, and molecular biology. Their work covers various subfields including pathology and forensic medicine, genetics, cancer research, oncology, and immunology.

The research topics explored by Heikki Järvinen focus notably on genetic factors in colorectal cancer, genomic variations and chromosomal abnormalities, genomics and rare diseases, cancer genomics and diagnostics, colorectal cancer screening and detection, immunodeficiency and autoimmune disorders, and acute myeloid leukemia research.

Recent publications highlight their active role in advancing knowledge related to hereditary cancer syndromes and genetic susceptibilities. Representative papers include:

  • Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers, 2020, Genetics in Medicine
  • Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity, 2023, Cancer Research Communications
  • Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia, 2023, Leukemia

Heikki Järvinen frequently collaborates with several co-authors, demonstrating partnerships within the scientific community. Repeated collaborations include work with Laura Renkonen-Sinisalo, Païvi Peltomäki, Anna Lepistö, Jukka-Pekka Mecklin, and Robert Blatter.

Their research is published across notable scientific journals such as Genetics in Medicine, Cancer Research Communications, and Leukemia, indicating engagement with diverse audiences in the medical and genetic research sectors.

Best Publications

  • Clues to the pathogenesis of familial colorectal cancer

    Lauri A. Aaltonen;Päivi Peltomäki;Fredrick S. Leach;Pertti Sistonen

  • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

    Fredrick S. Leach;Nicholas C. Nicolaides;Nickolas Papadopoulos;Bo Liu

  • A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

    A Hemminki;D Markie;I Tomlinson;E Avizienyte

  • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

    Heikki J. Järvinen;Markku Aarnio;Harri Mustonen;Katja Aktan–Collan‡

  • Cancer risk in mutation carriers of DNA-mismatch-repair genes.

    M. Aarnio;R. Sankila;E. Pukkala;R. Salovaara

  • Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

    L A Aaltonen;R Salovaara;P Kristo;F Canzian

  • Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

    Päivi Peltomäki;Lauri A. Aaltonen;Pertti Sistonen;Lea Pylkkänen

  • Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

    James R. Howe;Stina Roth;John C. Ringold;Robert W. Summers

  • Peutz–Jeghers syndrome: a systematic review and recommendations for management

    A. D. Beggs;A. R. Latchford;H. F. A. Vasen;G. Moslein

  • Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

    Hans F A Vasen;Ignacio Blanco;Katja Aktan-Collan;Jessica P Gopie

  • Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer

    Laura Lammi;Sirpa Arte;Mirja Somer;Heikki Järvinen

  • Replication Errors in Benign and Malignant Tumors from Hereditary Nonpolyposis Colorectal Cancer Patients

    Lauri A. Aaltonen;Päivi Peltomäki;Jukka Pekka Mecklin;Heikki Järvinen

  • Guidelines for the clinical management of familial adenomatous polyposis (FAP)

    H. F. A Vasen;G. Moslein;A. Alonso;S. Aretz

  • Life‐time risk of different cancers in hereditary non‐polyposis colorectal cancer (hnpcc) syndrome

    Markku Aarnio;Jukka-Pekka Mecklin;Lauri A. Aaltonen;Minna Nyström-Lahti

  • Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

    Reijo Salovaara;Anu Loukola;Paula Kristo;Helena Kääriäinen

  • Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer

    Heikki J. Järvinen;Jukka-Pekka Mecklin;Pertti Sistonen

  • The risk of extra‐colonic, extra‐endometrial cancer in the Lynch syndrome

    Patrice Watson;Hans F.A. Vasen;Jukka Pekka Mecklin;Inge Bernstein

  • Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

    A Hemminki;I Tomlinson;D Markie;H Järvinen

  • The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling

    Sari Tuupanen;Mikko Turunen;Rainer Lehtonen;Outi Hallikas

  • Duodenal adenomatosis in familial adenomatous polyposis

    S Bülow;J Björk;I J Christensen;O Fausa

Frequent Co-Authors

Jukka-Pekka Mecklin
Jukka-Pekka Mecklin University of Jyväskylä
Lauri A. Aaltonen
Lauri A. Aaltonen University of Helsinki
Päivi Peltomäki
Päivi Peltomäki University of Helsinki
Hans F. A. Vasen
Hans F. A. Vasen Leiden University
Ari Ristimäki
Ari Ristimäki University of Helsinki
Ian Tomlinson
Ian Tomlinson University of Oxford
Jussi Taipale
Jussi Taipale University of Cambridge
Richard S. Houlston
Richard S. Houlston Institute of Cancer Research
Pertti Sistonen
Pertti Sistonen Finnish Red Cross
Albert de la Chapelle
Albert de la Chapelle The Ohio State University

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