Jenny Carmichael

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

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

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

Journal: Journal of medical genetics

Published: September 07, 2024

PSMC5 insufficiency and P320R mutation impair proteasome function.

PSMC5 insufficiency and P320R mutation impair proteasome function.

Journal: Human molecular genetics

Published: February 21, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: January 24, 2024

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

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

Journal: Clinical genetics

Published: January 23, 2023

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

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

Journal: European journal of medical genetics

Published: January 11, 2022

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

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

Journal: Genome medicine

Published: November 23, 2021

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

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

Journal: Journal of medical genetics

Published: July 01, 2021

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: May 13, 2021

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Journal: European journal of human genetics : EJHG

Published: March 10, 2021

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

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

Journal: Human molecular genetics

Published: February 02, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: July 24, 2020

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

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

Journal: Clinical genetics

Published: November 28, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026