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List of works by David Markie

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

scientific article published on 16 January 2016

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

scientific article

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

scientific article published on 06 January 2017

A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map

scientific article published on 01 August 1996

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

scientific journal article

A simple assay for optimizing yeast-mammalian cell fusion conditions

scientific article published on 01 October 1996

A somatic cell hybrid panel for regional mapping of human chromosome 18.

scientific article published on October 1992

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations

scientific article

Analysis of associations for candidate genes with anxiety disorders

scientific article published on 04 August 2011

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

scientific article

Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia

scientific article published on 4 September 2012

Arrayed preparation of YAC DNA for pulsed field gel analysis.

scientific article published on November 1995

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

scientific article published on 12 May 2017

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

scientific article published on 02 December 2019

Cholecystokinin system genes: associations with panic and other psychiatric disorders

scientific article published on 5 October 2011

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

scientific article

Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

scientific article published on 8 September 2020

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

scientific article published on 12 October 2017

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype ⬇️

scientific article published on March 2, 2013

Evidence of associations between bipolar disorder and the brain-derived neurotrophic factor (BDNF) gene

scientific article published on 01 November 2011

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome

scientific article published on 01 November 1997

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

scientific article published on 26 August 2009

Genomic reconstruction by mitotic recombination of YACs

scientific article published on 01 January 1996

Genomic reconstruction by serial mitotic recombination of yeast artificial chromosomes

scientific article published on 01 January 2006

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

scientific article published on 18 June 2018

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

scientific article

Heat shock induces chromosome loss in the yeast Candida albicans

scientific article published on 01 January 1985

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

scientific article

Markers, selection, and media in YAC cloning.

scientific article

Markers, selection, and media in yeast artificial chromosome cloning.

scientific article published in January 2006

Mitotic recombination of yeast artificial chromosomes.

scientific article

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

scientific article published on 12 March 2018

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

scientific article published in December 2015

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

scientific article

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

scientific article published on 26 March 2015

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

scientific journal article

Mutations in the netrin-1 gene cause congenital mirror movements

scientific article

New vector for transfer of yeast artificial chromosomes to mammalian cells

scientific article published on March 1993

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

scientific article

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3 ⬇️

scientific article published on January 1, 1998

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

scientific article published on 01 September 2008

TaqI RFLP for the IL2RA locus

scientific article published on 01 November 1994

Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease

scientific article published on 01 September 1996

The human chromosome content in human x rodent somatic cell hybrids analyzed by a screening technique using Alu PCR.

scientific article

The small GTPase RAC3 gene is located within chromosome band 17q25.3 outside and telomeric of a region commonly deleted in breast and ovarian tumours

scientific article (publication date: 2000)

The telomere repeat binding protein Trf1 interacts with the spindle checkpoint protein Mad1 and Nek2 mitotic kinase

scientific article published on 05 January 2005

Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

scientific article published on 10 August 2020

UV-induced instability in Candida albicans hybrids

scientific article published on 01 January 1985

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

scientific article published in July 2017

Wilms tumor in patients with osteopathia striata with cranial sclerosis

scientific article published on 02 September 2020

YAC DNA preparation and labelling for high throughput FISH analysis.

scientific article

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