Dianne Gerrelli

London, ENG WC1N1EH, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

Redefining the Etiologic Landscape of Cerebellar Malformations.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Journal: American journal of human genetics

Published: June 03, 2019

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Journal: Science (New York, N.Y.)

Published: April 18, 2019

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Journal: American journal of human genetics

Published: March 01, 2019

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Journal: Birth defects research

Published: November 01, 2017

A genomic atlas of human adrenal and gonad development.

A genomic atlas of human adrenal and gonad development.

Journal: Wellcome open research

Published: May 02, 2017

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

Journal: Scientific reports

Published: March 22, 2017

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Journal: Genome research

Published: December 22, 2016

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Journal: Human genetics

Published: August 25, 2016

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Journal: American journal of human genetics

Published: August 20, 2016

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

Journal: Frontiers in neuroanatomy

Published: July 29, 2016

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

Journal: Journal of anatomy

Published: October 15, 2015

Enabling research with human embryonic and fetal tissue resources.

Enabling research with human embryonic and fetal tissue resources.

Journal: Development (Cambridge, England)

Published: September 24, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026