List of works - Margaret McKinnon

A case of splenomegaly in CBL syndrome

scientific article

Autobiographical memory and patterns of brain atrophy in frontotemporal lobar degeneration

scientific article published on October 2008

Autobiographical memory in semantic dementia: implication for theories of limbic-neocortical interaction in remote memory

scientific article

Base transitions dominate the mutational spectrum of a transgenic reporter gene in MSH2 deficient mice

scientific journal article

Combined immunodeficiency associated with homozygous MALT1 mutations

scientific article published on 12 December 2013

Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma".

scientific article published in January 2017

Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis

scientific article

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice

scientific article published on 01 July 2003

Genetic variants of Tgfb1 act as context-dependent modifiers of mouse skin tumor susceptibility.

scholarly article

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae

scientific article published on 14 December 2015

Intrinsic connectivity network dynamics in PTSD during amygdala downregulation using real-time fMRI neurofeedback: A preliminary analysis

scientific article published on 13 July 2018

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

scientific article published on 19 January 2017

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

scientific article

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

scientific journal article

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

scientific article

Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation

scientific article published on 22 April 2016

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

scientific article

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

scientific article published on 30 December 2016

The neurobiology of emotion regulation in posttraumatic stress disorder: Amygdala downregulation via real-time fMRI neurofeedback

scientific article published on 20 September 2016

Tissues of MSH2-deficient mice demonstrate hypermutability on exposure to a DNA methylating agent.

scientific article published on February 1998

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

scientific journal article

List of works by Margaret McKinnon

A case of splenomegaly in CBL syndrome

Autobiographical memory and patterns of brain atrophy in frontotemporal lobar degeneration

Autobiographical memory in semantic dementia: implication for theories of limbic-neocortical interaction in remote memory

Base transitions dominate the mutational spectrum of a transgenic reporter gene in MSH2 deficient mice

Combined immunodeficiency associated with homozygous MALT1 mutations

Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma".

Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis

Exome Sequencing and the Management of Neurometabolic Disorders.

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice

Genetic variants of Tgfb1 act as context-dependent modifiers of mouse skin tumor susceptibility.

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae

Intrinsic connectivity network dynamics in PTSD during amygdala downregulation using real-time fMRI neurofeedback: A preliminary analysis

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

The neurobiology of emotion regulation in posttraumatic stress disorder: Amygdala downregulation via real-time fMRI neurofeedback

Tissues of MSH2-deficient mice demonstrate hypermutability on exposure to a DNA methylating agent.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro