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Genetics
Brazil
2026

D-Index & Metrics

Genetics

D-Index
81
Citations
22430
World Ranking
1532
National Ranking
2

Research.com Recognitions

  • 2026 - Research.com Genetics in Brazil Leader Award

Overview

Peter L. Pearson is affiliated with Utrecht University in the Netherlands. Their research broadly spans several disciplines within biochemistry, genetics, and molecular biology, as well as medicine, with a focus on genetics and pediatric health.

The scientist's publication record includes work in various areas related to genomic and chromosomal variations, prenatal screening, and molecular biology. Among their recent papers are:

  • Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil, 2022, Scientific Reports
  • Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation, 2020, Tumor Biology
  • Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil, 2022, bioRxiv (Cold Spring Harbor Laboratory)
  • Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses, 2021, American Journal of Medical Genetics Part A

Frequently, their research has been published in venues such as Scientific Reports, Tumor Biology, bioRxiv, and the American Journal of Medical Genetics Part A.

Peter L. Pearson collaborates regularly with a set of co-authors, including Ana Cristina Victorino Krepischi, Carla Rosenberg, Darine Villela, Silvia Souza da Costa, and Patricia C. Mazzonetto.

The main fields of study represented in their work include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Their research also concentrates on notable subfields such as:

  • Genetics
  • Pediatrics, Perinatology and Child Health
  • Molecular Biology
  • Plant Science

Key topics central to the scientist's investigations include:

  • Genomic variations and chromosomal abnormalities
  • Prenatal Screening and Diagnostics
  • Chromosomal and Genetic Variations
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation
  • Biochemical and Molecular Research
  • Genomics and Rare Diseases

Best Publications

  • The variability of female reproductive ageing

    Egbert R te Velde;Peter L Pearson

  • A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

    S. T. Reeders;M. H. Breuning;K. E. Davies;R. D. Nicholls

  • Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

    J. T. Den Dunnen;P. M. Grootscholten;E. Bakker;L. A. J. Blonden

  • Technique for Identifying Y Chromosomes in Human Interphase Nuclei

    P L Pearson;M Bobrow;C G Vosa

  • Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84

    T. Cremer;J. Landegent;A. Brückner;H. P. Scholl

  • Minor Xp21 chromosome deletion in a male associated with expression of duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

    Francke U;Ochs Hd;de Martinville B;Giacalone J

  • Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

    K.E. Davies;P.L. Pearson;P.S. Harper;J.M. Murray;J.M. Murray

  • Identification of a new copper metabolism gene by positional cloning in a purebred dog population.

    Bart van de Sluis;Jan Rothuizen;Peter L. Pearson;Bernard A. van Oost

  • Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice

    Bruce T. Lamb;Sangram S. Sisodia;Ann M. Lawler;Hilda H. Slunt

  • The role of genetic factors in age at natural menopause

    J. P. De Bruin;H. Bovenhuis;P. A. H. Van Noord;P. L. Pearson

  • A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q.

    S.C. Bakker;E. M. van der Meulen;J.K. Buitelaar;L.A. Sandkuijl

  • Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.

    E Bakker;N Goor;K Wrogemann;L.M Kunkel

  • Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

    S. S. Bhattacharya;A. F. Wright;J. F. Clayton;W. H. Price

  • Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.

    M. Bobrow;Kamlesh Madan;P. L. Pearson

  • Report of the committee on comparative mapping

    P. L. Pearson;T. H. Roderick;M. T. Davisson;J. J. Garver

  • Heart Disease Risk Determines Menopausal Age Rather Than the Reverse

    Helen S. Kok;Kristel M. van Asselt;Kristel M. van Asselt;Yvonne T. van der Schouw;Ingeborg van der Tweel

  • Detection of Chromosome Aneuploidy in Interphase Nuclei from Human Primary Breast Tumors Using Chromosome-specific Repetitive DNA Probes

    Peter Devilee;Remi F. Thierry;Tim Kievits;Rukmini Kolluri

  • Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q

    Devilee P;van Vliet M;van Sloun P;Kuipers Dijkshoorn N

  • At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma.

    Peter Devilee;Marianne van den Broek;Nel Kuipers-Dukshoorn;Rukmini Kolluri

  • Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization.

    Kievits T;Dauwerse Jg;Wiegant J;Devilee P

Frequent Co-Authors

Kenneth K. Kidd
Kenneth K. Kidd Yale University
Anne M. Bowcock
Anne M. Bowcock Icahn School of Medicine at Mount Sinai
Judi E. Hewitt
Judi E. Hewitt University of Auckland
David Neil Cooper
David Neil Cooper Cardiff University
P. Meera Khan
P. Meera Khan Leiden University
Jacques S. Beckmann
Jacques S. Beckmann University of Lausanne
Thomas B. Shows
Thomas B. Shows Roswell Park Cancer Institute
Egbert Bakker
Egbert Bakker Leiden University Medical Center
Mark H. Skolnick
Mark H. Skolnick Myriad Genetics (Germany)
Cisca Wijmenga
Cisca Wijmenga University Medical Center Groningen

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