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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain development.

Marija Kojic
Tomasz Gawda
Brandon J. Wainwright
ResearchOpen Access11 May 2021
Nature Communications

Volume: 12, P: 1-18
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton
Cyril Mignot
Christel Depienne
Research03 Oct 2019
Genetics in Medicine

Volume: 22, P: 524-537
A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet
Thomas Rolland
Thomas Bourgeron
ResearchOpen Access23 Oct 2017
npj Genomic Medicine

Volume: 2, P: 1-9
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

Clotilde Mircher
Silvia Sacco
Franck G. Sturtz
Research08 Jul 2019
Genetics in Medicine

Volume: 22, P: 44-52
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli
Massimo Bogliolo
Paolo Peterlongo
ResearchOpen Access01 Nov 2019
npj Breast Cancer

Volume: 5, P: 1-14
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet
Thomas Rolland
Thomas Bourgeron
Amendments and CorrectionsOpen Access01 Jul 2019
npj Genomic Medicine

Volume: 4, P: 1

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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Search

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