List of works - Jennefer N Kohler

A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis

scientific article published on 18 March 2019

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

article

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

scientific article published on 05 December 2018

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

scientific article published on 23 October 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

Defining personal utility in genomics: A Delphi study

scientific article published on 20 February 2017

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students

scientific article published on 01 February 2019

Dynamic landscape and regulation of RNA editing in mammals.

scientific article published in October 2017

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

scientific article published on January 2017

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

scientific article published on 28 March 2019

Genomics in medicine: a novel elective rotation for internal medicine residents

scientific article published on 22 August 2019

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

scientific article published on 13 January 2018

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

article

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

scientific article published on 03 June 2019

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

scientific article published on 09 December 2019

One is the loneliest number: genotypic matchmaking using the electronic health record

scientific article published on 06 July 2021

Personal utility in genomic testing: a systematic literature review.

scientific article published on 15 March 2017

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions

scientific article published on 18 July 2020

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

scientific article published on 03 November 2020

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

scientific article published on 03 September 2019

List of works by Jennefer N Kohler