Dr Jenny Carmichael - Publications

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

05 Jan 2017

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

03 Dec 2017

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome

03 Apr 2019

RERE deficiency contributes to the development of orofacial clefts in humans and mice

12 May 2021

Genetic and chemotherapeutic influences on germline hypermutation

11 May 2022

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

22 Jun 2021

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

13 Jun 2022

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

29 Oct 2021

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

10 May 2023

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

29 Jan 2023

PSMC5 insufficiency and P320R mutation impair proteasome function

18 Aug 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

24 Oct 2024

MDA5 gain-of-function associated with a Glu794del mutation

02 Oct 2024

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes

24 Jun 2025