List of works - Louise Bicknell

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

scientific article published on 14 May 2008

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

scientific article

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

scientific article published on 24 September 2018

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

scientific article published on 23 June 2019

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

scientific article published on 21 April 2020

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

Cerebral organoids model human brain development and microcephaly

scientific article

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

scientific article

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

scientific article published on 6 December 2018

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

scientific article

Expanding the phenotypic spectrum associated with DPF2: A new case report

scientific article published on 17 June 2019

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

scientific article

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

scientific article published on 20 July 2012

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

scientific article published on 29 November 2019

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

scientific article published on 27 February 2011

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

scientific article

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

scientific article published on 5 March 2015

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

scientific article published on 22 November 2020

Quantifying single nucleotide variant detection sensitivity in exome sequencing

scientific article

Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.

scientific article published on 2 November 2017

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

scientific article

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants

scientific article published on 18 December 2020

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

scientific article

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

scientific article

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

scientific article

List of works by Louise Bicknell

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Cerebral organoids model human brain development and microcephaly

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Expanding the phenotypic spectrum associated with DPF2: A new case report

Extreme growth failure is a common presentation of ligase IV deficiency

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.