Lista de obras - Samantha J.L. Knight - Dominio Público Uruguay

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

artículo científico publicado en 2016

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

artículo científico publicado en 2000

Characterization of a recurrent 15q24 microdeletion syndrome.

artículo científico publicado en 2007

Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia?

artículo científico publicado en 2013

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

artículo científico publicado en 2018

Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL

artículo científico publicado en 2018

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

artículo científico publicado en 2018

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.

scientific article published on 13 September 2016

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

artículo científico publicado en 2014

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

artículo científico publicado en 2007

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

artículo científico publicado en 2013

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.

artículo científico publicado en 2016

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

artículo científico publicado en 2015

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

artículo científico publicado en 2014

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

artículo científico publicado en 2016

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

artículo científico publicado en 2018

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings

artículo científico publicado en 2010

Multi-telomere FISH.

artículo científico publicado en 2002

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

artículo científico publicado en 2015

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

artículo científico publicado en 2012

Phenotype and natural history in Marshall-Smith syndrome

Potocki-Lupski syndrome mimicking a connective tissue disorder

artículo científico publicado en 2008

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

artículo científico publicado en 2017

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer

artículo científico publicado en 2017

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups

artículo científico publicado en 2017

Lista de obras de Samantha J.L. Knight

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

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

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

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

Characterization of a recurrent 15q24 microdeletion syndrome.

Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia?

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

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.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings

Multi-telomere FISH.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

Phenotype and natural history in Marshall-Smith syndrome

Potocki-Lupski syndrome mimicking a connective tissue disorder

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

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

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.

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

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

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

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

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups