H. Scott

M. Brown, Amit Sharma, H. Scott, 2012, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer

Anna L. Brown, Paul P. S. Wang, Soma Das, 2021, Leukemia.

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

H. Scott, B. Oftedal, D. Mordaunt, 2015, Pediatric neurology.

Significant Response to Gemcitabine Monotherapy in Primary Pleural Epithelioid Angiosarcoma

M. Brown, H. Scott, T. Tan, 2012 .

Gene Dosage–limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity

L. Peltonen, D. Gray, A. Liston, 2004, The Journal of experimental medicine.

The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein*

S. Antonarakis, M. Vihinen, J. Ollila, 2000, The Journal of Biological Chemistry.

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

S. Antonarakis, N. Shimizu, J. Kudoh, 1999, Biochemical and biophysical research communications.

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

S. Antonarakis, N. Shimizu, M. Devoto, 1998, Human Genetics.

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.

X. Estivill, S. Antonarakis, E. Antonarakis, 2000, Genome research.

Mutation analyses of North American APS‐1 patients

Qiaoyi Chen, Pärt Peterson, S. Antonarakis, 1999, Human mutation.

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

S. Antonarakis, H. Scott, C. Brahe, 1998, Genomics.

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

H. Scott, A. Schreiber, C. Barnett, 2016, Human mutation.

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

A. Reymond, S. Antonarakis, S. Deutsch, 2004, Human Mutation.

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.

S Minoshima, S. Antonarakis, N. Shimizu, 2000, Genomics.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

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

Anna L. Brown, H. Scott, C. Hahn, 2020, Blood.

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

Anna L. Brown, J. Matthews, H. Scott, 2017, Leukemia.

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

J. Gécz, L. To, H. Scott, 2008, Leukemia.

GATA2 is required for lymphatic vessel valve development and maintenance.

G. Secker, David M. Lawrence, J. Matthews, 2015, The Journal of clinical investigation.

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

Paul P. S. Wang, H. Scott, A. Schreiber, 2020, American journal of medical genetics. Part A.

A Systems Approach Identifies Essential FOXO3 Functions at Key Steps of Terminal Erythropoiesis

Roberta B. Nowak, D. Papatsenko, Avi Ma’ayan, 2015, PLoS genetics.

Myeloid neoplasms with germline DDX41 mutation

Anna L. Brown, H. Scott, C. Hahn, 2017, International Journal of Hematology.

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

Paul P. S. Wang, H. Scott, A. Schreiber, 2020, Journal of the Endocrine Society.

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

R. Uibo, T. Battelino, L. Tserel, 2008, Blood.

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

A. Reymond, S. Antonarakis, N. Shimizu, 2002, Human molecular genetics.

Statistical modeling of sequencing errors in SAGE libraries.

Terence P Speed, Tim Beissbarth, Gordon K Smyth, 2004, Bioinformatics.

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

I. Wicks, H. Scott, D. Tarlinton, 2009, Arthritis and rheumatism.

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

H. Scott, J. Hopwood, A. Gal, 1995 .

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

C. P. Morris, H. Scott, J. Hopwood, 1995, Human mutation.

GATA2 is required for lymphatic vessel valve development and maintenance.

G. Secker, David M. Lawrence, J. Matthews, 2015, The Journal of clinical investigation.

Spliceosome mutations in hematopoietic malignancies

H. Scott, C. Hahn, 2011, Nature Genetics.

What is expanded in progressive myoclonus epilepsy?

S. Antonarakis, H. Scott, M. Lalioti, 1997, Nature Genetics.

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

C. Masters, R. Cappai, Qiao-Xin Li, 2006, Neurobiology of Aging.

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

J. Rosenfeld, S. Holland, G. Secker, 2012 .

Apparent ‘JAK2‐negative’ polycythaemia vera due to compound mutations in exon 14

H. Scott, C. Hahn, I. Tiong, 2017, British journal of haematology.

Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.

S. Antonarakis, N. Shimizu, S. Minoshima, 1997, Genome research.

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

Justin Tan, H. Scott, M. Guipponi, 2010, NeuroReport.

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

C. P. Morris, H. Scott, J. Hopwood, 1993, Human molecular genetics.

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

C. P. Morris, H. Scott, J. Hopwood, 1992, Genomics.

Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

C. P. Morris, G. Sutherland, D. Callen, 1990, American journal of human genetics.

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.

S. Antonarakis, A. Aguzzi, M. Prinz, 2000, Human molecular genetics.

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

H. Scott, J. Hopwood, P. Clements, 1996, Human molecular genetics.

α‐L‐iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

H. Scott, D. Brooks, J. Hopwood, 1992 .

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

C. P. Morris, G. Sutherland, H. Scott, 1995, Nature Genetics.

Structure and sequence of the human sulphamidase gene.

H. Scott, L. Karageorgos, J. Hopwood, 1996, DNA research : an international journal for rapid publication of reports on genes and genomes.

Human a-L-iduronidase : cDNA isolation and expression ( mucopolysaccharidosis type I / Hurler syndrome / lysosomal storage disorder / lysosomal hydrolase / alternative mRNA splicing )

C. P. Morris, H. Scott, J. Hopwood, 2022 .

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

H. Scott, L. Clarke, 1993, Human molecular genetics.

Mutations among Italian mucopolysaccharidosis type I patients

H. Scott, M. Filocamo, J. Hopwood, 1997, Journal of Inherited Metabolic Disease.

The molecular genetics of mucopolysaccharidosis type I / by Hamish Steele Scott.

H. Scott, 1992 .

The clinical and genetic features of hereditary pancreatitis in South Australia

L. Palmer, K. Kassahn, H. Scott, 2022, Medical Journal of Australia.

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

S. Antonarakis, R. Lyle, H. Scott, 2001, Brain Research Reviews.

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

Anna L. Brown, Paul P. S. Wang, J. Maciejewski, 2019, Leukemia.

Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.

T. Andrews, V. Pascual, C. Goodnow, 2014, Arthritis & rheumatology.

GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)

Anna L. Brown, K. Friend, P. Ekert, 2010 .

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

H. Scott, M. Pritchard, C. Hewitt, 2007, Frontiers in bioscience : a journal and virtual library.

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*

G. Smyth, M. Bahlo, B. Phipson, 2012, The Journal of Biological Chemistry.

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

C. P. Morris, J. Gusella, H. Scott, 1992, Genomics.

RUNX1 mutations are rare in chronic phase polycythaemia vera

J. Melo, I. Lewis, H. Scott, 2011, British journal of haematology.

A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature

H. Scott, A. Schreiber, P. Venugopal, 2023, Nature.

Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis

Paul P. S. Wang, H. Scott, A. Schreiber, 2016 .

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

Stylianos E. Antonarakis, Xavier Estivill, Torsten Schwede, 2002, Journal of Molecular Medicine.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

A. Pandya, S. Antonarakis, J. Kudoh, 2001, Journal of medical genetics.

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.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.

S. Antonarakis, H. Scott, A. Mohyuddin, 2000, Advances in oto-rhino-laryngology.

A case of Aromatase deficiency due to a novel CYP19A1 mutation

H. Scott, D. Torpy, L. Gagliardi, 2014, BMC Endocrine Disorders.

Estimating the proportion of microarray probes expressed in an RNA sample

Wei Shi, Hamish S. Scott, Douglas J. Hilton, 2010, Nucleic acids research.

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.

S. Antonarakis, C. Buresi, A. Malafosse, 1998, American journal of human genetics.

Genomic autopsy offers answers for pregnancy loss and perinatal death

H. Scott, Christopher Barnett, 2023, Nature Medicine.

TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms

Anna L. Brown, H. Scott, A. Tefferi, 2023, Blood Cancer Journal.

TP53 mutation in therapy-related myeloid neoplasm defines a distinct molecular subtype.

Anna L. Brown, A. Wei, H. Scott, 2022, Blood.

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

H. Scott, S. Fuchs, S. Berrih-Aknin, 2011, Journal of autoimmunity.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

G. Ravenscroft, N. Laing, K. Kassahn, 2023, Neuromuscular Disorders.

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

H. Scott, A. Schreiber, C. Hahn, 2015, American journal of medical genetics. Part A.

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

H. Scott, M. Burt, N. Poplawski, 2016, Clinical endocrinology.

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy

Anna L. Brown, H. Scott, P. Arts, 2023, Frontiers in Oncology.

Genomic subtyping and therapeutic targeting of acute erythroleukemia

Anna L. Brown, M. Loh, Cheng Cheng, 2019, Nature Genetics.

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

H. Scott, A. Schreiber, S. Holdsworth, 2017, Journal of autoimmunity.

Identification of a pathogenic variant in TREX1 in early-onset cerebral SLE by whole-exome sequencing.

T. Andrews, V. Pascual, M. Field, 2016, Pathology.

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

D. Adelson, H. Scott, J. Mann, 2016, Data in Brief.

The Genomic Autopsy: using whole exome and whole genome sequencing to solve complex fetal and neonatal presentations

Karin, Moore, Lynette, 2017 .

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

G. Smyth, H. Scott, K. Simpson, 2014, Genomics data.

Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome

H. Scott, P. Cheah, C. Hewitt, 2019, Journal of Molecular Neuroscience.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

M. Cowley, M. Pinese, M. Dinger, 2023, Genome Biology.

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations

Anna L. Brown, Paul Liu, H. Scott, 2022, Blood advances.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Clonal hematopoiesis in individuals with ANKRD26 or ETV6 germline mutations

Anna L. Brown, H. Scott, A. Schreiber, 2021, bioRxiv.

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

Paul P. S. Wang, J. Reynolds, H. Scott, 2017, Blood advances.

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

K. Kassahn, H. Scott, D. Ketteridge, 2015, American journal of medical genetics. Part A.

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

A. Wee, I. Lewis, H. Scott, 2017, Scientific Reports.

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

Anna L. Brown, H. Scott, A. Schreiber, 2019, Blood.

C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning.

S. Antonarakis, N. Shimizu, J. Kudoh, 2000, Genomics.

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

B. Delprat, F. Molina, J. Puel, 2013, Human molecular genetics.

Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2

M. Hattori, Y. Sakaki, S. Antonarakis, 1999, Cytogenetic and Genome Research.

Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26

Anna L. Brown, H. Scott, Claire C. Homan, 2023, Blood.

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

O. Olopade, H. Scott, J. Michaud, 2004, Leukemia.

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies

Anna L. Brown, M. Bishop, H. Scott, 2022, Blood Advances.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

W. Foulkes, D. Evans, K. Nathanson, 2017, Clinical Cancer Research.

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

Shane Herbert, H. Scott, M. Guipponi, 2005, BioTechniques.

A Common Mutation for Type I Associated With a Syndrome Phenotype Mucopolysaccharidosis Severe Hurler

H. Scott, J. Hopwood, T. Litjens, 2005 .

Brief Definitive Report

D. Holtzman, B. J. Snider, M. Yanagisawa, 2003 .

Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention

Paul P. S. Wang, D. Thomson, H. Scott, 2023, Haematologica.

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

R. Stevenson, F. McKenzie, A. Nordgren, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Expanding the Phenotype of NUP85 Mutations beyond Nephrotic Syndrome to Primary Autosomal Recessive Microcephaly and Seckel Syndrome Spectrum Disorders

V. Tarabykin, B. Fahrenkrog, B. Kamien, 2021, Neuropediatrics.

Laboratory quality assessment of candidate gene panel testing for acute myeloid leukaemia: a joint ALLG / RCPAQAP initiative.

Anna L. Brown, S. Bohlander, M. Horan, 2020, Pathology.

Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity.

W. Reith, H. Scott, I. Williams, 2008, Immunity.

Brief Definitive Report

J. Penninger, H. Scott, S. Parnell, 2003 .

Brief Definitive Report

C. Bartram, J. Penninger, H. Scott, 2003 .

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

H. Scott, S. Parnell, G. Anderson, 2008, European journal of immunology.