Louise S. Bicknell

Dunedin, OTA, New Zealand

Last Updated: 09/26/2026

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Found 43 publications

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.

Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.

Journal: European journal of human genetics : EJHG

Published: February 06, 2026

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.

Journal: G3 (Bethesda, Md.)

Published: April 11, 2025

The genetic basis of human height.

The genetic basis of human height.

Journal: Nature reviews. Genetics

Published: March 11, 2025

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

Journal: Human molecular genetics

Published: July 08, 2024

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Journal: European journal of human genetics : EJHG

Published: June 24, 2024

A second hotspot for pathogenic exon-skipping variants in CDC45.

A second hotspot for pathogenic exon-skipping variants in CDC45.

Journal: European journal of human genetics : EJHG

Published: December 16, 2023

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Journal: American journal of human genetics

Published: September 23, 2023

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

Journal: American journal of medical genetics. Part A

Published: September 12, 2023

The molecular genetics of nELAVL in brain development and disease.

The molecular genetics of nELAVL in brain development and disease.

Journal: European journal of human genetics : EJHG

Published: July 06, 2023

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

Journal: European journal of human genetics : EJHG

Published: February 04, 2023

Showing 1-12 of 43

Last Updated: 09/26/2026