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List of works by Jennifer Lawson

Embedding "Smart" Disease Coding Within Routine Electronic Medical Record Workflow: Prospective Single-Arm Trial

scientific article published on 27 July 2020

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

scientific article published on 16 December 2015

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

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