Jacqueline K. Rainger

Edinburgh, SCT EH42XU, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

Characterization of an eye field-like state during optic vesicle organoid development.

Characterization of an eye field-like state during optic vesicle organoid development.

Journal: Development (Cambridge, England)

Published: November 07, 2022

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Journal: PloS one

Published: April 14, 2021

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.

Journal: PLoS biology

Published: November 05, 2020

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Journal: Nature genetics

Published: May 27, 2017

cGAS surveillance of micronuclei links genome instability to innate immunity.

cGAS surveillance of micronuclei links genome instability to innate immunity.

Journal: Nature

Published: July 03, 2016

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Journal: Nature genetics

Published: June 15, 2016

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Journal: American journal of human genetics

Published: November 16, 2015

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Journal: PloS one

Published: November 12, 2015

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Journal: European journal of medical genetics

Published: June 11, 2014

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

Journal: Human mutation

Published: April 01, 2014

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Journal: American journal of human genetics

Published: March 24, 2014

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Journal: Human molecular genetics

Published: December 24, 2013

Showing 1-12 of 16

Last Updated: 09/26/2026