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Samantha J.L. Knight

Samantha J.L. Knight

D-Index & Metrics

Genetics

D-Index
60
Citations
13456
World Ranking
3152
National Ranking
386

Overview

Samantha J.L. Knight is affiliated with the University of Oxford in the United Kingdom. Their research spans several key fields within biochemistry, genetics, molecular biology, and medicine, with particular focus on genetics, molecular biology, and pathology and forensic medicine. Additional research interests include cancer research and neurology.

The scientist's work concentrates on topics such as genomics and rare diseases, genetic factors in colorectal cancer, cancer genomics and diagnostics, chronic lymphocytic leukemia research, glycosylation and glycoproteins research, lymphoma diagnosis and treatment, and genomic variations and chromosomal abnormalities.

Recent publications by Samantha J.L. Knight include:

  • "Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia," 2020, Blood
  • "Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases," 2023, Genome Medicine
  • "Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma," 2021, Scientific Reports
  • "Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review," 2024, BMC Medical Genomics
  • "Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations," 2020, European Journal of Human Genetics

Frequent co-authors who have collaborated multiple times with Knight include:

  • Jenny C. Taylor
  • Hélène Dreau
  • Anna Schuh
  • Alistair T. Pagnamenta
  • Gerton Lunter

The scientist has published across a variety of journals and venues, notably:

  • Blood
  • Genome Medicine
  • Scientific Reports
  • BMC Medical Genomics
  • European Journal of Human Genetics

Best Publications

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

    Andrew J Sharp;Sierra Hansen;Rebecca R Selzer;Ze Cheng

  • The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance

    Monika Mortensen;Elizabeth Jane Soilleux;Gordana Djordjevic;Rebecca Tripp

  • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

    S.J.L. Knight;A.V. Flannery;M.C. Hirst;L. Campbell

  • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

    Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  • Subtle chromosomal rearrangements in children with unexplained mental retardation.

    Samantha J L Knight;Regina Regan;Alison Nicod;Sharon W Horsley

  • A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

    David A. Koolen;Lisenka E.L.M. Vissers;Rolph Pfundt;Nicole De Leeuw

  • An optimized set of human telomere clones for studying telomere integrity and architecture.

    Samantha J.L. Knight;Christa M. Lese;Kathrin S. Precht;Julie Kuc

  • Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

    B B A de Vries;S M White;S J L Knight;R Regan

  • Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

    Andrew O. M. Wilkie;Jo C. Byren;Jane A. Hurst;Jayaratnam Jayamohan

  • Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    B W M van Bon;H C Mefford;B Menten;D A Koolen

  • Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

    Samantha J L Knight;Jonathan Flint

  • Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    F.D. Hannes;A.J. Sharp;H.C. Mefford;T. de Ravel

  • A complete set of human telomeric probes and their clinical application

    Yi Ning;Anna Roschke;Ann C.M. Smith;Ann C.M. Smith;Michelle Macha;Michelle Macha

  • SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

    Ruth Clifford;Tania Louis;Pauline Robbe;Sam Ackroyd

  • Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    D. A. Koolen;A. J. Sharp;A. J. Sharp;J. A. Hurst;H. V. Firth

  • Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres.

    S J Knight;S W Horsley;R Regan;N M Lawrie

  • Characterization of a recurrent 15q24 microdeletion syndrome

    Andrew J Sharp;Rebecca R Selzer;Joris A Veltman;Stefania Gimelli

  • The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

    Katharina Schwarze;James Buchanan;James Buchanan;Jilles M Fermont;Helene Dreau

  • Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

    A Slavotinek;M Rosenberg;S Knight;L Gaunt

Frequent Co-Authors

Jenny C. Taylor
Jenny C. Taylor University of Oxford
Anna Schuh
Anna Schuh University of Oxford
Kay E. Davies
Kay E. Davies University of Oxford
Alistair T. Pagnamenta
Alistair T. Pagnamenta University of Oxford
Jonathan Flint
Jonathan Flint University of California, Los Angeles
Peter Hillmen
Peter Hillmen St James's University Hospital
Evan E. Eichler
Evan E. Eichler University of Washington
Andrew J. Sharp
Andrew J. Sharp Icahn School of Medicine at Mount Sinai
Lyndal Kearney
Lyndal Kearney Institute of Cancer Research
Andrew O.M. Wilkie
Andrew O.M. Wilkie University of Oxford

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