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List of works by Kelly D Farwell Hagman

A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice

scientific article published on 14 August 2013

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

scientific article

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations

scientific article published on 9 February 2009

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

scientific article published on 11 August 2016

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

scientific article published on 30 October 2019

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent

scientific article published on 06 April 2018

Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach

article

Clinical whole-exome sequencing results impact medical management

article

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

scientific article published on 19 December 2018

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.

scientific article

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

scientific article published on 10 February 2022

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

scientific article

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

scientific article published on 17 January 2018

High frequency of de novo mutations in Li-Fraumeni syndrome

scientific article published on 25 June 2009

If we build it ... will they come?--establishing a cancer genetics services clinic for an underserved predominantly Latina cohort.

scientific article published in December 2006

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

scientific article published on 14 September 2018

Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype.

scientific article

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

scientific article published on 05 September 2013

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

scientific article

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.

scientific article

Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice.

scientific article

When moments matter: Finding answers with rapid exome sequencing

scientific article published on 24 December 2019