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Author Details

Jennefer N Kohler
Stanford Center for Undiagnosed Diseases
2017
23
12
PMIDPaper TitleJournal TitlePublished Year
37838931The Parent PrU: A measure to assess personal utility of pediatric genomic results.Genet Med2024
36481303A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genet Med2023
37653044A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.Nat Metab2023
36516964The PrU: Development and validation of a measure to assess personal utility of genomic results.Genet Med2023
34374469Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.J Genet Couns2022
36514391A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome.Kidney3602022
34981646Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.Am J Med Genet A2022
34096130"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.J Genet Couns2021
33144514The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>.Neurology2020
31723249De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genet Med2020
31820119Loss 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.Acta Neuropathol2020
30514889ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.Genet Med2019
31439813Genomics in medicine: a novel elective rotation for internal medicine residents.Postgrad Med J2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30920161Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.Am J Med Genet A2019
30706981Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.J Genet Couns2019
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
29330883Genotype-phenotype correlations in individuals with pathogenic RERE variants.Hum Mutat2018
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
28050602Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotype.Cold Spring Harb Mol Case Stud2017
29022589Dynamic landscape and regulation of RNA editing in mammals.Nature2017
28295040Personal utility in genomic testing: a systematic literature review.Eur J Hum Genet2017
28218387Defining personal utility in genomics: A Delphi study.Clin Genet2017
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Collaborators

Jonathan A Bernstein
Stanford University
Co-authored papers 14
Matthew T Wheeler
Stanford University School of Medicine
Co-authored papers 7
Matthew T Wheeler
Center for Undiagnosed Diseases, Stanford University
Co-authored papers 6
Annika M Dries
Center for Inherited Cardiovascular Disease, Stanford University School of Medicine
Co-authored papers 6
Euan A Ashley
Stanford University
Co-authored papers 5
Paul G Fisher
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Co-authored papers 5
Liliana Fernandez
Stanford Center for Undiagnosed Diseases
Co-authored papers 5
Megan E Grove
Stanford Medicine Clinical Genomics Program
Co-authored papers 4
Barbara B Biesecker
and Translational Research Center
Co-authored papers 4
Dianna G Fisk
Stanford Medicine Clinical Genomics Program
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Kelly Schoch
Duke University School of Medicine
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Shruti Marwaha
Stanford University
Co-authored papers 3
Vandana Shashi
Duke University School of Medicine
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Daryl Waggott
Ontario Institute for Cancer Research
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Yaping Yang
Baylor College of Medicine
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Jean M Davidson
Stanford University School of Medicine
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Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
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Kelly E Ormond
Stanford University School of Medicine
Co-authored papers 2
Katie L Lewis
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Benjamin S Wilfond
University of Washington School of Medicine.
Co-authored papers 2
Rebecca C Spillmann
Duke University School of Medicine
Co-authored papers 2
Holly K Tabor
Stanford Center for Biomedical Ethics (SCBE), Stanford University
Co-authored papers 2
Hugo J Bellen
Baylor College of Medicine
Co-authored papers 2
Heidi Cope
GenOmics and Translational Research Center
Co-authored papers 2
Chunli Zhao
Center for Undiagnosed Diseases, Stanford University
Co-authored papers 1
Julie Hall
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Donna M Martin
University of Michigan ann arbor
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Susan Schelley
Stanford University
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Erika M Zink
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