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List of works by Hamish S. Scott

8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?

scientific article published on 13 October 2014

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

scientific article

A case of Aromatase deficiency due to a novel CYP19A1 mutation

scientific article

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

scientific article published in October 1998

A comparative analysis of algorithms for somatic SNV detection in cancer.

scientific article published on 09 July 2013

A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering

scholarly article

A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients.

scientific article

A network-biology perspective of microRNA function and dysfunction in cancer

scientific article published on 31 October 2016

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

scientific article published on 28 March 2019

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

scientific article

A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia.

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

A serial analysis of gene expression profile of the Alzheimer's disease Tg2576 mouse model.

scientific article published on 16 September 2009

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

scientific article published on 03 June 2020

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.

scientific article published on 9 March 2015

AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity

scientific article

AML1 interconnected pathways of leukemogenesis

scientific article (publication date: 2003)

APECED: a monogenic autoimmune disease providing new clues to self-tolerance

scientific article published on 01 September 1998

ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).

scientific article published on 12 October 2017

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia

scientific article published on 06 June 2014

ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure

scientific article published on 31 July 2017

Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia

scientific article published on 19 February 2020

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas

scientific article published on 16 June 2020

Ablation and regeneration of tolerance-inducing medullary thymic epithelial cells after cyclosporine, cyclophosphamide, and dexamethasone treatment.

scientific article published on 29 June 2009

Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance

scientific article published on 19 April 2011

Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype

scientific article

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

scientific article

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

scientific article published on 01 December 1992

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

scientific article

Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14.

scientific article published on 2 May 2016

Autoantigen-Specific Interactions with CD4+ Thymocytes Control Mature Medullary Thymic Epithelial Cell Cellularity

scientific article published on 01 September 2008

Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens

scientific article published on 24 February 2015

Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen

scientific article

Autoimmune regulator (AIRE)-deficient CD8+CD28low regulatory T lymphocytes fail to control experimental colitis.

scientific article

Autoimmune regulator controls T cell help for pathogenetic autoantibody production in collagen-induced arthritis

scientific article published in June 2009

Autoimmune regulator deficiency results in decreased expression of CCR4 and CCR7 ligands and in delayed migration of CD4+ thymocytes

scientific journal article

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

scientific article published in April 1999

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications

scientific article published on 10 June 2016

BCR-ABL1 kinase domain mutations may persist at very low levels for many years and lead to subsequent TKI resistance

scientific article published on 25 June 2013

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

scientific article published on 01 December 2014

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome

scientific article

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

scientific article published on 13 February 2015

Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.

scientific article

Chromosome band 16q22-linked familial AML: exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms

scientific article published in November 2004

Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features

scientific article published on 04 July 2017

Clonal and lineage analysis of somatic DNMT3A and JAK2 mutations in a chronic phase polycythemia vera patient.

scientific article

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

scientific journal article

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

scientific journal article

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

scientific article

Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.

scientific article

Cover Image, Volume 37, Issue 9

DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues.

scientific article published on 27 October 2011

DNMT3L is a regulator of X chromosome compaction and post-meiotic gene transcription

scientific article

Decreased phosphatidylethanolamine binding protein expression correlates with Abeta accumulation in the Tg2576 mouse model of Alzheimer's disease.

scientific article

Deep sequencing analysis of the developing mouse brain reveals a novel microRNA

scientific article

Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene

scientific article published on 27 October 2015

Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain

scientific article published on 20 January 2016

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes

scientific article published on 23 June 2017

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

article

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

scientific article

Diversity and clonotypic composition of influenza-specific CD8+ TCR repertoires remain unaltered in the absence of Aire.

scientific article published in March 2010

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing

scientific article published on 21 June 2016

Education and promiscuity

scientific article published in Nature

Estimating the proportion of microarray probes expressed in an RNA sample

scientific article

Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas

article

Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds

scientific article published on 5 November 2008

Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks

scientific article

GATA2 is required for lymphatic vessel valve development and maintenance.

scientific article

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

scientific article published on 19 April 2018

Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje down syndrome mouse model

scientific article published on 22 February 2019

Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

scientific article

Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down syndrome

scientific article

Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood

scientific article published on 01 August 2006

Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling.

scientific article published on 12 June 2006

Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia

scientific article published on 24 May 2012

Genomic organisation and nervous system expression of radial spoke protein 3.

scientific article

Genomic subtyping and therapeutic targeting of acute erythroleukemia

scientific article published on 29 March 2019

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours

scientific article published on 20 February 2017

HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.

scientific article published on 23 October 2015

Hematopoietic defects in the Ts1Cje mouse model of Down syndrome

scientific article published on 24 December 2008

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

scientific article

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

scientific article published on July 1991

Identification and Characterization of Two Putative Human Arginine Methyltransferases (HRMT1L1 and HRMT1L2) ⬇️

scientific article published on March 15, 1998

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

scientific article

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

scientific article published on 14 November 2019

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

scientific article

In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts

scientific article

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

scientific article

Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model

article

Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge

scientific article published on 06 March 2014

Integrative analysis of RUNX1 downstream pathways and target genes

scientific article

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

scientific article published on 07 July 2008

Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome

scientific article

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

scientific article published in January 2004

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

scientific article published in January 1992

Localization of Idd11 is not associated with thymus and nkt cell abnormalities in NOD mice

scientific article published in December 2005

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

scientific article published on 01 January 1993

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

scientific article

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

scientific article published on 6 December 2011

Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination.

scientific article

Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin.

scientific article published on 4 February 2007

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.

scientific article

Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice

scientific article published on 16 January 2009

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss

scientific article

Modifiers of epigenetic reprogramming show paternal effects in the mouse.

scientific article

Modulation of Aire regulates the expression of tissue-restricted antigens

scientific journal article

Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).

scientific article published in March 2003

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

scientific article published on January 1995

Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling.

scientific article

Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene

scientific article (publication date: August 1994)

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

scientific article published on 01 March 1992

Multiplex ligation-dependent probe amplification (MLPA) genotyping assay for mouse models of down syndrome

scientific article published on 01 May 2007

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

scientific article published on 01 January 1994

Mutations among Italian mucopolysaccharidosis type I patients

scientific article published on 01 November 1997

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

scientific article (publication date: February 2002)

Myeloid neoplasms with germline DDX41 mutation

scientific article

MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels

scientific article published on 17 August 2023

NKT cell development in the absence of the autoimmune regulator gene (Aire)

scientific article published in October 2008

Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury.

scientific article

No evidence for core-binding factor CBFbeta as a leukemia predisposing factor in chromosome 16q22-linked familial AML.

scientific article published in April 2004

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

scientific article published on 15 October 2009

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

scientific journal article

One of the reasons why humans, and not sponges or worms, get psychiatric disorders? ⬇️

scientific article published on November 1, 2010

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene

scientific article (publication date: November 1992)

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease ⬇️

scientific article published on November 25, 1991

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

scientific article published on 06 March 2020

Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes

scientific article published on 29 April 2010

Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile.

scientific article

Post-Aire Maturation of Thymic Medullary Epithelial Cells Involves Selective Expression of Keratinocyte-Specific Autoantigens

scientific article published in March 2012

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

scientific article published on 20 August 2015

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

scientific journal article

RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla

scientific article published on 14 May 2007

RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

article

RUNX1 mutations are rare in chronic phase polycythaemia vera.

scientific article

Rare and novel epidermal growth factor receptor mutations in non-small-cell lung cancer and lack of clinical response to gefitinib in two cases.

scientific article

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

scientific article published on June 2017

Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.

scientific article published on June 2017

Redefining epithelial progenitor potential in the developing thymus

scientific article published in September 2007

Reduced thymic Aire expression and abnormal NF-kappa B2 signaling in a model of systemic autoimmunity

scientific article published in March 2009

Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics

scientific article published on 9 July 2015

SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology

scientific article

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

scientific article published on 19 May 2020

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.

scientific article published on 29 September 2017

Sensitive detection of BCR-ABL1 mutations in patients with chronic myeloid leukemia after imatinib resistance is predictive of outcome during subsequent therapy

scientific article published on 11 October 2011

Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input

scientific article published in April 2008

Short-term inhibition of p53 combined with keratinocyte growth factor improves thymic epithelial cell recovery and enhances T-cell reconstitution after murine bone marrow transplantation

scientific article

Spatiotemporal regulation of multiple overlapping sense and novel natural antisense transcripts at the Nrgn and Camk2n1 gene loci during mouse cerebral corticogenesis.

scientific article published on 6 August 2010

Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy

scientific article

Spliceosome mutations in hematopoietic malignancies ⬇️

scientific article published on December 27, 2011

Statistical modeling of sequencing errors in SAGE libraries

scientific article

Structure and sequence of the human alpha-L-iduronidase gene

scientific article published on August 1, 1992

T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ.

scientific article published on 15 March 2017

TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis

scientific article published in December 1997

Targeted pharmacotherapy after somatic cancer mutation screening

scientific article published on 30 June 2016

Technophiles seek genomic imperfections with the Greek gods at Atlantis

scientific article published in October 2005

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

scientific article (publication date: 2 June 2000)

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.

scientific article published on January 2003

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

scientific article

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution

scientific article published on 14 May 2019

The susceptibility of Aire(-/-) mice to experimental myasthenia gravis involves alterations in regulatory T cells.

scientific article

Thymic deletion and regulatory T cells prevent antimyeloperoxidase GN.

scientific article published on 7 February 2013

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice

scientific article

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

scientific article

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing

scientific article

Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome

scientific article

Transplantation of autoimmune regulator-encoding bone marrow cells delays the onset of experimental autoimmune encephalomyelitis

scientific article published on 11 November 2010

Two Isoforms of a Human Intersectin (ITSN) Protein Are Produced by Brain-Specific Alternative Splicing in a Stop Codon ⬇️

scientific article published on November 1, 1998

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

scientific article published on 17 February 2020

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

scientific article published on 04 October 2007

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

scientific article published on 01 August 1993

Ultrastructure of medullary thymic epithelial cells of autoimmune regulator (Aire)-deficient mice

scientific article published on 01 September 2009

Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput.

scientific article

Use of within-array replicate spots for assessing differential expression in microarray experiments

scientific article published on 18 January 2005

Vinclozolin exposure in utero induces postpubertal prostatitis and reduces sperm production via a reversible hormone-regulated mechanism

scientific journal article

What is expanded in progressive myoclonus epilepsy?

scientific article published on 01 September 1997

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