Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

S. Knight · SciRah

Researcher profile · Semantic Scholar

S. Knight

Share profile

S. Knight — researcher profile on SciRah

h-index: 43
Works: 112
Citations: 8,641

Most-cited papers

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
A. Sharp, S. Hansen, R. Selzer, Ze Cheng +16 more
2006Nature Genetics639 citations
Semantic Scholar
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
A. Sharp, H. Mefford, Kelly E. Li, C. Baker +30 more
2008Nature Genetics575 citations Open access
Semantic Scholar
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
D. Koolen, L. Vissers, R. Pfundt, N. de Leeuw +16 more
2006Nature Genetics473 citations
Semantic Scholar
Subtle chromosomal rearrangements in children with unexplained mental retardation
S. Knight, R. Regan, A. Nicod, S. Horsley +5 more
1999471 citations
Semantic Scholar
A complete set of human telomeric probes and their clinical application
Y. Ning, A. Roschke, Ann C. M. Smith, M. Macha +10 more
1996Nature Genetics304 citations
Semantic Scholar
An optimized set of human telomere clones for studying telomere integrity and architecture.
S. Knight, C. M. Lese, K. Precht, Julie A. Kuc +12 more
2000American Journal of Human Genetics300 citations Open access
Semantic Scholar
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
B. W. Bon, H. Mefford, B. Menten, D. Koolen +51 more
2009Journal of Medical Genetics291 citations Open access
Semantic Scholar
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. Hannes, A. Sharp, H. Mefford, T. de Ravel +13 more
2008Journal of Medical Genetics288 citations Open access
Semantic Scholar
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
B. D. de Vries, S. White, S. Knight, R. Regan +12 more
2001Journal of Medical Genetics281 citations Open access
Semantic Scholar
Prevalence and complications of single gene and chromosomal disorders in craniosynostosis
A. Wilkie, J. Byren, J. Hurst, J. Jayamohan +6 more
2010Pediatrics278 citations Open access
Semantic Scholar
Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis
S. Knight, J. Flint
2000Journal of Medical Genetics240 citations Open access
Semantic Scholar
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
R. Clifford, T. Louis, P. Robbe, S. Ackroyd +24 more
2014Blood231 citations Open access
Semantic Scholar
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
D. Koolen, A. Sharp, J. Hurst, H. Firth +44 more
2008Journal of Medical Genetics223 citations Open access
Semantic Scholar
Development and Clinical Application of an Innovative Fluorescence in situ Hybridization Technique Which Detects Submicroscopic Rearrangements Involving Telomeres
S. Knight, S. Horsley, R. Regan, N. Lawrie +4 more
1997European Journal of Human Genetics199 citations
Semantic Scholar
Characterization of a recurrent 15q24 microdeletion syndrome.
A. Sharp, R. Selzer, J. Veltman, S. Gimelli +13 more
2007Human Molecular Genetics193 citations Open access
Semantic Scholar
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
Katharina Schwarze, J. Buchanan, J. Fermont, H. Dreau +13 more
2019Genetics in Medicine188 citations Open access
Semantic Scholar
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
P. Robbe, N. Popitsch, S. Knight, P. Antoniou +30 more
2018Genetics in Medicine164 citations Open access
Semantic Scholar
Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis
S. Twigg, Elena Vorgia, S. McGowan, Ioanna Peraki +23 more
2013Nature Genetics160 citations Open access
Semantic Scholar
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.
J. Flint, S. Knight
2003Current Opinion in Genetics and Development149 citations
Semantic Scholar
A 15q13.3 microdeletion segregating with autism
A. Pagnamenta, Kirsty Wing, E. S. Akha, S. Knight +9 more
2009European Journal of Human Genetics146 citations Open access
Semantic Scholar
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 +8 more
1999Journal of Medical Genetics144 citations
Semantic Scholar
Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.
R. Guièze, P. Robbe, R. Clifford, S. de Guibert +22 more
2015Blood116 citations Open access
Semantic Scholar
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Malcolm F. Howard, Y. Murakami, A. Pagnamenta, C. Daumer-Haas +17 more
2014American Journal of Human Genetics113 citations Open access
Semantic Scholar
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development
S. Lise, Yvonne L. Clarkson, E. Perkins, A. Kwasniewska +28 more
2012PLoS Genetics112 citations Open access
Semantic Scholar
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
Thomas S. Price, R. Regan, R. Mott, Å. Hedman +15 more
2005Nucleic Acids Research100 citations Open access
Semantic Scholar
Mutations of NFKBIA, encoding IκBα, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non‐EBV‐associated cases
A. Lake, Lesley A. Shield, P. Cordano, Daniel Chui +9 more
2009International Journal of Cancer90 citations
Semantic Scholar
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
M. Lenglet, F. Robriquet, K. Schwarz, C. Camps +47 more
2018Blood79 citations Open access
Semantic Scholar
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
B. Ilkovski, A. Pagnamenta, G. O'Grady, T. Kinoshita +20 more
2015Human Molecular Genetics77 citations Open access
Semantic Scholar
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
A. Pagnamenta, Malcolm F. Howard, É. Wisniewski, N. Popitsch +8 more
2015Human Molecular Genetics73 citations Open access
Semantic Scholar
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
S. Twigg, C. Babbs, M. E. P. van den Elzen, A. Goriely +16 more
2013Human Molecular Genetics73 citations Open access
Semantic Scholar
Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia
S. Knight, C. Yau, R. Clifford, A. Timbs +11 more
2012Leukemia73 citations Open access
Semantic Scholar
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
A. Pagnamenta, S. Lise, V. Harrison, H. Stewart +11 more
2011Journal of Human Genetics71 citations
Semantic Scholar
Genomic and transcriptomic correlates of Richter's transformation in Chronic Lymphocytic Leukemia.
J. Klintman, N. Appleby, B. Stamatopoulos, K. Ridout +15 more
2020Blood68 citations Open access
Semantic Scholar
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
P. Robbe, K. Ridout, D. Vavoulis, H. Dreau +37 more
2022Nature Genetics58 citations Open access
Semantic Scholar
Clinical spectrum of STX1B-related epileptic disorders
S. Wolking, P. May, D. Mei, R. Møller +47 more
2019Neurology57 citations Open access
Semantic Scholar
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings
G. Spurlock, S. Knight, N. Thomas, T. Kiehl +2 more
2010Journal of Cancer Research and Clinical Oncology57 citations Open access
Semantic Scholar
Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction
C. D. de Villiers, C. Hooper, L. Ormondroyd, A. Pagnamenta +15 more
201648 citations
Semantic Scholar
A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss
A. Pagnamenta, J. Murray, G. Yoon, E. S. Akha +9 more
2012American Journal of Medical Genetics. Part A46 citations Open access
Semantic Scholar
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
C. Babbs, Deborah L. Lloyd, A. Pagnamenta, S. Twigg +11 more
2014Journal of Medical Genetics44 citations Open access
Semantic Scholar
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder
D. Newbury, F. Mari, Elham Sadighi Akha, K. Macdermot +6 more
2012European Journal of Human Genetics38 citations Open access
Semantic Scholar
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom
S. Wordsworth, J. Buchanan, R. Regan, V. Davison +7 more
2007Genomic Medicine38 citations Open access
Semantic Scholar
A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation
K. Brackley, M. Kilby, J. Morton, M. Whittle +2 more
1999Prenatal Diagnosis37 citations
Semantic Scholar
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
H. Winter, P. Kaisaki, Joe Harvey, E. Giacopuzzi +6 more
2019Cancers29 citations Open access
Semantic Scholar
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction
R. Hastings, C. D. de Villiers, C. Hooper, L. Ormondroyd +16 more
2016Circulation: Cardiovascular Genetics26 citations Open access
Semantic Scholar
Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors
Gemma Moir-Meyer, P. Cheong, Aude-Anais Olijnik, Jill M. Brown +8 more
2018Methods and Protocols23 citations Open access
Semantic Scholar
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma
H. Roberts, M. Lopopolo, A. Pagnamenta, Eshita Sharma +11 more
2020Scientific Reports20 citations Open access
Semantic Scholar
Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL
J. Klintman, Katerina Barmpouti, S. Knight, P. Robbe +14 more
2018British Journal of Haematology18 citations Open access
Semantic Scholar
SAMHD 1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage
R. Clifford, T. Louis, P. Robbe, S. Ackroyd +24 more
201418 citations
Semantic Scholar
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches
D. Koolen, E. Sistermans, Willy Nilessen, S. Knight +13 more
2008European Journal of Human Genetics18 citations Open access
Semantic Scholar
Erratum: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups
A. Burns, R. Alsolami, J. Becq, B. Stamatopoulos +17 more
2017Leukemia17 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

Jenny C. Taylor×21
Invite
Jenny C. Taylor — researcher profile on SciRah
R. Regan×13
Invite
R. Regan — researcher profile on SciRah
A. Pagnamenta×12
Invite
A. Pagnamenta — researcher profile on SciRah
H. Dreau×10
Invite
H. Dreau — researcher profile on SciRah

×8

Invite

A. Schuh — researcher profile on SciRah

Invite

P. Robbe — researcher profile on SciRah

Invite

A. Sharp — researcher profile on SciRah

Invite

H. Stewart — researcher profile on SciRah

Invite

J. Flint — researcher profile on SciRah

Invite

R. Clifford — researcher profile on SciRah

Invite

A. Burns — researcher profile on SciRah

Invite

E. S. Akha — researcher profile on SciRah