List of works - Karen M Lower

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

scientific article published in October 2004

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

scientific article published in October 2010

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

scientific article published on 26 April 2018

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

scientific article

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

scientific article published on 18 June 2013

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

scientific article

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

scientific article

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

scientific article published in May 1998

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

scientific article

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

scientific article

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

scientific article published on 06 January 2017

Generation of bivalent chromatin domains during cell fate decisions

scientific article

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

scientific article published on 24 August 2017

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

scientific article published on 06 May 2013

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

scientific article published on 16 May 2018

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

scientific article

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

scientific article published on 17 January 2014

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

scientific article

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

scientific article (publication date: April 2002)

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

scientific article

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

scientific article

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

scientific article published on 8 March 2017

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

scientific article published on 11 February 2016

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

scientific article published on 11 August 2017

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

scientific article

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

scientific article

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

scientific article published on 4 August 2017

List of works by Karen M Lower

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

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

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

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

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

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

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

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

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

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

Generation of bivalent chromatin domains during cell fate decisions

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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