0000-0002-2099-3420 Employment
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University College London
Education
Education history is unavailable.
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Publications (22)
- The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort Save
- Enrichment of Clinically Relevant Organisms in Spontaneous Preterm-Delivered Placentas and Reagent Contamination across All Clinical Groups in a Large Pregnancy Cohort in the United Kingdom. Save
- Genetic Analyses in Small-for-Gestational-Age Newborns Save
- Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects. Save
- Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Save
- A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank. Save
- Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Save
- Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models. Save
- Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion. Save
- Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Save