Jennefer N Kohler

12PUBLICATIONS
91CO-AUTHORS
Gene mappingTesting, assessment and psychometricsEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesRegenerative medicine (incl. stem cells)
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Publications (12)

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

|Feb 21, 2026
Personal utility of genomic results: Application and validation of the PrU scale to the Australian context.

Erin Turbitt, Kris D Rogers, Steven He

|Nov 24, 2025
Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing.

Alexis Ferrasse, Rodrigo Mendez, John E Gorzynski

|Oct 29, 2025
RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position.

Laura Keehan, Jennefer N Carter, Elijah Kravets

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Feb 07, 2025
Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study.

Kelly E Ormond, Caroline Stanclift, Chloe M Reuter

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Frequent Collaborators

8 joint publications

Matthew T Wheeler

6 joint publications

Jonathan A Bernstein

4 joint publications

Chloe Reuter

3 joint publications

Devon E Bonner