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List of works by Peter Turnpenny

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

scientific article

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

scientific article

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

scientific article published on 2 November 2017

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

scientific article published on 23 January 2014

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

scientific article published on 3 April 2017

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

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