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Alistair T Pagnamenta

National Institute for Health Research

15

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518

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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

2021 American Journal of Human Genetics
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

2019 Genetics in Medicine
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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

2018 American Journal of Human Genetics
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Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing

2018
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A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

2018 Human Mutation
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Whole genome sequence analysis establishes correct diagnosis for a syndromic form of hyperuricaemia

2018
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Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018
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A case of vitamin D-dependent rickets type 2A (VDDR2A), caused by compound-heterozygous mutations in the vitamin D receptor (VDR)

2018
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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

2016 Nature Genetics
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

2015 Nature Genetics
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Citations (242)