K. Lower

发表

A biclonal case of chronic lymphocytic leukaemia with discordant mutational status of the immunoglobulin heavy chain variable region and bimodal CD49d expression

O. G. Best, L. Thurgood, B. Kuss, 2020, British journal of haematology.

Differential Telomere Shortening in Blood versus Arteries in an Animal Model of Type 2 Diabetes

S. Tajbakhsh, D. Hussey, Elke M Sokoya, 2015, Journal of diabetes research.

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

D. Mackey, A. Hewitt, E. Souzeau, 2017, G3: Genes, Genomes, Genetics.

Aberrant determination of phenotypic markers in chronic lymphocytic leukemia (CLL) lymphocytes after cryopreservation.

L. Thurgood, B. Kuss, Cindy Macardle, 2018, Experimental hematology.

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

J. Gécz, R. Hennekam, A. Mégarbané, 2005, Journal of Medical Genetics.

UvA-DARE ( Digital Academic Repository ) Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF 6 mutation in a female patient

R. Hennekam, A. Mégarbané, G. Turner, 2006 .

ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner

Steven J. M. Jones, J. Ragoussis, I. Dunham, 2010, Cell.

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

S. Philipsen, D. Higgs, V. Viprakasit, 2014, Blood.

From genome to proteome: Looking beyond DNA and RNA in chronic lymphocytic leukemia.

L. Thurgood, T. Chataway, B. Kuss, 2017, Journal of proteomics.

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

I. Scheffer, M. Shaw, J. Gécz, 2002, Nature Genetics.

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

C. Mathew, N. Doggett, R. Gibson, 1998, Genomics.

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer.

A D Auerbach, C. Mathew, N. Doggett, 1998, Genomics.

The Combination of Metformin and Valproic Acid Induces Synergistic Apoptosis in the Presence of p53 and Androgen Signaling in Prostate Cancer

L. Butler, M. Centenera, G. Kichenadasse, 2017, Molecular Cancer Therapeutics.

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

M. Shaw, J. Gécz, J. Clayton-Smith, 2002, Nature Genetics.

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome

J. Gécz, A. Baumstark, I. Andriuškevičiūtė, 2003, Journal of medical genetics.

Analysis of Sequence Variation Underlying Tissue‐specific Transcription Factor Binding and Gene Expression

J. Hughes, D. Higgs, J. Sloane-Stanley, 2013, Human mutation.

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

J. Ragoussis, I. Dunham, J. Hughes, 2013, Philosophical Transactions of the Royal Society B: Biological Sciences.

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells.

I. Dunham, Christoph M. Koch, D. Higgs, 2008, Blood.

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

J. Craig, K. Burdon, R. Casson, 2018, Molecular genetics & genomic medicine.

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome family

J. Gécz, M. Partington, G. Turner, 2004, European Journal of Human Genetics.

Understanding α‐Globin Gene Regulation: Aiming to Improve the Management of Thalassemia

M. Gobbi, J. Hughes, D. Higgs, 2005, Annals of the New York Academy of Sciences.

The Combination of Metformin and Valproic Acid Has a Greater Anti-tumoral Effect on Prostate Cancer Growth In Vivo than Either Drug Alone

G. Kichenadasse, S. Klebe, D. Elliot, 2018, In Vivo.

Molecular genetics of X-linked mental retardation: a complex picture emerging

J. Gécz, M. Mangelsdorf, K. Lower, 2001, Expert review of molecular diagnostics.

Bivalent chromatin modification

P. Vyas, M. Gobbi, T. Enver, 2013 .

Generation of bivalent chromatin domains during cell fate decisions

P. Vyas, T. Enver, S. Jacobsen, 2011, Epigenetics & Chromatin.

Altered expression of metabolic pathways in CLL detected by unlabelled quantitative mass spectrometry analysis

L. Thurgood, T. Chataway, B. Kuss, 2019, British journal of haematology.

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Vip Viprakasit, Chris Fisher, Douglas R Higgs, 2009, Proceedings of the National Academy of Sciences.

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

E. Souzeau, J. Craig, K. Burdon, 2016, European Journal of Human Genetics.

Lipid uptake in chronic lymphocytic leukemia

O. G. Best, Ashley A. Rowland, L. Thurgood, 2021, Experimental Hematology.

Partial Androgen Insensitivity Syndrome and t(X;5): Are There Upstream Regulatory Elements of the Androgen Receptor Gene?

G. Sutherland, L. Villard, E. Woollatt, 2004, Hormone Research in Paediatrics.

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Kathryn P. Burdon, Theresa Casey, Jamie E. Craig, 2017, BMC Medical Genetics.

Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency

A. Lampe, M. Wright, J. Gecz, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Development of locus specific sub‐clone separation by fluorescence in situ hybridization in suspension in chronic lymphocytic leukemia

L. Thurgood, B. Kuss, Cindy Macardle, 2017, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-IS) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.

B. Kuss, Cindy Macardle, K. Lower, 2017, Cancer genetics.

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

E. Souzeau, J. Craig, K. Burdon, 2016, BMC Research Notes.

Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.

J. Gecz, K. Lower, 2001, American journal of medical genetics.

Bivalent chromatin modification

P. Vyas, T. Enver, S. Luc, 2013 .

Insight into del17p low‐frequency subclones in chronic lymphocytic leukaemia (CLL): data from the Australasian Leukaemia and Lymphoma Group (ALLG)/CLL Australian Research Consortium (CLLARC) CLL5 trial

O. G. Best, S. Mulligan, L. Thurgood, 2021, British journal of haematology.

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells.

I. Dunham, Christoph M. Koch, D. Higgs, 2008, Blood.

Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-IS) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.

B. Kuss, Cindy Macardle, K. Lower, 2017, Cancer genetics.