List of works - Catherine A. Brownstein

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

scientific article published on 07 July 2021

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism

scholarly article

An assessment of clinician and researcher needs for support in the era of genomic medicine

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

scientific article published on 22 September 2015

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

scientific article published on 29 April 2015

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis

scientific article published on 18 June 2010

Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility

scientific article published on 14 June 2016

Data sharing in the undiagnosed diseases network

scientific article

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

scientific article published on 13 November 2018

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum

scientific article published on 9 September 2016

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse

scientific article

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Misinterpretation of TPMT by a DTC Genetic Testing Company

scientific article published on 12 March 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

scientific article published on 28 October 2013

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

scientific article published on 26 September 2016

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

scientific article published on 16 February 2016

Perceived benefits of sharing health data between people with epilepsy on an online platform

scientific article

Potential for electronic health records and online social networking to redefine medical research

scientific article published on 15 December 2010

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

scientific article published on 18 February 2021

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

scientific article published on 28 July 2016

Sharing health data for better outcomes on PatientsLikeMe

scientific article (publication date: 14 June 2010)

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The potential research impact of patient reported outcomes on osteogenesis imperfecta

scientific article

The power of social networking in medicine.

scientific article

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

scientific article published on 06 October 2016

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

scientific article published on 16 March 2021

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome

scientific article published on 17 March 2015

List of works by Catherine A. Brownstein

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism

An assessment of clinician and researcher needs for support in the era of genomic medicine

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis

Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility

Data sharing in the undiagnosed diseases network

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Misinterpretation of TPMT by a DTC Genetic Testing Company

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Perceived benefits of sharing health data between people with epilepsy on an online platform

Potential for electronic health records and online social networking to redefine medical research

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

Sharing health data for better outcomes on PatientsLikeMe

The Matchmaker Exchange: a platform for rare disease gene discovery

The potential research impact of patient reported outcomes on osteogenesis imperfecta

The power of social networking in medicine.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome