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Publications by Kristin G. Monaghan

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics

Genetics

2019

English

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics

Genetics

2019

English

HNRNPR Variants That Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

American Journal of Human Genetics

Genetics

2019

English

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

Genetics

2016

English

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

American Journal of Human Genetics

Genetics

2019

English

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

English

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cold Spring Harbor molecular case studies

English

Cednik

Child Neurology Open

2017

English

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

2019

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Kristin G. Monaghan

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

HNRNPR Variants That Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cednik

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases